35 research outputs found
Recommended from our members
Imaging and therapy in multiple sclerosis
- Author
- Publication venue
- University of Cambridge
- Publication date
- 02/05/2020
- Field of study
Multiple sclerosis (MS) is a common, debilitating autoimmune disorder of the central nervous
system (CNS). The most visible element of MS pathology is white matter (WM) lesions. However,
extra-lesional abnormalities are recognised and appear most marked at the outer (subpial) brain
surfaces at post-mortem. Magnetisation transfer ratio (MTR) is a non-conventional MRI
sequence that correlates with myelin density and axonal count, and has recently uncovered
reductions in the innermost (periventricular) layers and outermost (cortical) layers of patients
with longstanding MS. These abnormalities are termed “outside-in” changes. The cause, extent,
evolution and treatment-responsiveness of these outside-in gradients is unknown.
Most patients present with relapsing-remitting (RR) MS for which numerous immunomodulatory
disease-modifying therapies (DMTs) are licensed. However, after approximately 20 years most
convert to secondary progressive (SP) MS where immunomodulatory therapies have little if any
effect. Whether DMTs delay or prevent this transition remains unclear.
During this PhD I examined whether outside-in MTR gradients occur in different disease stages,
their clinical associations and predictive capabilities, and (for periventricular gradients) their
response to a potent immunomodulatory DMT. In a separate project, I used real-world data to
explore whether DMT use is associated with a lower risk of conversion to SPMS.
Outside-in MTR gradients of tissue damage were seen in periventricular and cortical regions at
all stages of relapse-onset MS and primary-progressive MS. The periventricular MTR gradient was
reversed by peripheral immunomodulation and independently predicted subsequent relapse activity on and off DMTs. The underlying process(es) remain unknown but appear at least
partially distinct from those underlying lesion formation; a CSF-mediated process – secondary to
meningeal inflammation or primarily degenerative – might explain both periventricular and
cortical gradients.
Among patients with RRMS, initial treatment with fingolimod, natalizumab or alemtuzumab was
associated with a lower risk of conversion to SPMS compared to initial treatment with glatiramer
acetate or interferon beta over a median 5.8 years of follow-up. A lower risk of conversion was
also associated with early (versus late) commencement of glatiramer acetate or interferon beta;
and with early escalation from these therapies to fingolimod, natalizumab or alemtuzumab
compared to late escalation. These findings, considered along with these therapies’ risks, may
help inform decisions about DMT selection.Grand Charity of the Freemason
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
- Abhyankar Avinash
- Abramzon Yevgeniya
- Al Kheifat Ahmad
- Al-Chalabi Ammar
- Al-Chalabi Ammar
- Al-Sarraj Safa
- Allen Andrew S
- Andersen Peter
- Andersen Peter M
- Appel Stanley
- Appel Stanley H
- Arcila-Londono Ximena
- Arepalli Sampath
- Arosio Alessandro
- Asress Seneshaw
- Baas Frank
- Baas Frank
- Baloh Robert H
- Baloh Robert H
- Barberis Marco
- Barohn Richard
- Bartolomei Ilaria
- Basak A. Nazli
- Basak A. Nazli
- Battistini Stefania
- Battistini Stefania
- Bauer Denis C
- Baxi Emily
- Baxi Emily
- Bedlack Richard
- Bedlack Richard S
- Benatar Michael
- Benatar Michael
- Benigni Michele
- Bernard Emilien
- Berry James D
- Berry James D
- Bertolin Cinzia
- Besson Gérard
- Blair Ian P
- Blair Ian P
- Boone Braden E
- Borghero Giuseppe
- Borghero Giuseppe
- Bowser Robert
- Boylan Kevin B
- Brady Christopher B
- Brice Alexis
- Broach James
- Broach James R
- Brown Robert
- Brown Robert H
- Bruijn Lucie
- Brunetti Maura
- Burns Ted
- Calvo Andrea
- Calvo Andrea
- Cammarosano Stefania
- Campbell Roy H
- Camu William
- Camu William
- Cannas Antonino
- Canosa Antonio
- Capasso Margherita
- Capasso Margherita
- Caponnetto Claudia
- Caponnetto Claudia
- Caredda Carla
- Caress James
- Carrera Paola
- Carulli John P
- Casale Federico
- Castellotti Barbara
- Cau Tea B
- Cavallaro Sebastiano
- Cereda Cristina
- Cereda Cristina
- Ceroni Mauro
- Chandran Siddharthan
- Chesi Alessandra
- Chia Ruth
- Chio Adriano
- Chiò Adriano
- Chung Wendy K
- Cirulli Elizabeth T
- Clavelou Pierre
- Clayman Christine
- Colletti Tiziana
- Colombrita Claudia
- Comi Giacomo P
- Comi Giacomo P
- Conforti Francesca L
- Conforti Francesca L
- Conte Amelia
- Cooley Anne
- Cooper Gregory M
- Cooper-Knock Johnathan
- Cooper-Knock Jonathan
- Corbo Massimo
- Corcia Philippe
- Corcia Philippe
- Corongiu Daniela
- Corrado Lucia
- Corrado Lucia
- Corti Stefania
- Costantino Emanuela
- Couratier Philippe
- Couthouis Julien
- Cox Gregory A
- Cuccu Stefania
- Cudkowicz Merit
- Cudkowicz Merit
- Danel Véronique
- Dardiotis Efthimios
- Day-Williams Aaron G
- de Belleroche Jacqueline
- de Carvalho Mamede
- de Carvalho Mamede
- De Marchi Fabiola
- Dekker Annelot
- Del Bo Roberto
- Ding Jinhui
- Dion Patrick A
- Dominov Janice A
- Drory Vivian
- Drory Vivian E
- Dubnau Joshua
- Dunckley Travis L
- D’Alfonso Sandra
- D’Alfonso Sandra
- Ealing John
- Eicher John D
- Elman Lauren
- Esteban-Pérez Jesús
- Evani Uday Shankar
- Faghri Faraz
- Fasano Antonio
- Feldman Eva L
- Femiano Cinzia
- Ferrarese Carlo
- Ferrucci Luigi
- Fifita Jennifer A
- Filosto Massimiliano
- Fini Nicola
- Finkbeiner Steve
- Finkbeiner Steven
- Finkbeiner Steven
- Floeter Mary Kay
- Floris Gianluca
- Fogh Isabella
- Fogh Isabella
- Fraenkel Ernest
- Fraenkel Ernest
- Fratta Pietro
- Fratta Pietro
- Fuda Giuseppe
- Gagliardi Stella
- García-Redondo Alberto
- Geiger Joshua T
- Gellera Cinzia
- Gellera Cinzia
- Gerhard Glenn
- Giannini Fabio
- Gibbs J. Raphael
- Gibson Summer
- Gibson Summer B
- Gitler Aaron D
- Gitler Aaron D
- Gkazi Athina Soragia
- Glass Jonathan
- Glass Jonathan D
- Glass Jonathan D
- Goldstein David B
- Goldstein David B
- Gotkine Marc
- Goutman Stephen
- Goutman Stephen A
- Grassano Maurizio
- Guy Nathalie
- Gwathmey Kelly
- Hamdalla Hisham
- Hammell Molly G
- Han Yujun
- Hardiman Orla
- Hardiman Orla
- Hardy John
- Harms Matthew B
- Harms Matthew B
- Harris Tim
- Harris Tim
- Hayes Sebastian D
- Heckmann Jeannine
- Heiman-Patterson Terry
- Heiman-Patterson Terry D
- Hernandez Dena G
- Hide Winston
- Hornstein Eran
- Hussain Sumaira
- Iacoangeli Alfredo
- Ilardi Antonio
- Inghilleri Maurizio
- Jackson Carlayne
- Jansson Lilja
- Jenkins Liberty
- Johnson Janel O
- Jones Angela L
- Kamalakaran Sitharthan
- Kamel Freya
- Katz Jonathan
- Kaye Julia
- Kaye Julia
- Keagle Pamela
- Keebler Jonathan
- Kenna Aoife
- Kenna Brendan J
- Kenna Kevin
- Kenna Kevin P
- Khan Shaida
- Kiernan Matthew
- King Andrew
- Kirby Janine
- Kolb Stephen J
- Kolb Stephen J
- Kooyman Maarten
- Kooyman Maarten
- Kowall Neil W
- Krueger Brian J
- Kwan Justin
- La Bella Vincenzo
- La Bella Vincenzo
- Laaksovirta Hannu
- Lacomis David
- Lagrange Emmeline
- Landers John
- Landers John E
- Landi Francesco
- Lasseigne Brittany N
- Lattante Serena
- Lauria Giuseppe
- Lauria Giuseppe
- Le Ber Isabelle
- Lee Edward B
- Lemasson Gwendal
- LeNail Alex
- LeNail Alexander
- Levy Shawn E
- Lima Leandro
- Lima Leandro
- Logroscino Giancarlo
- Logullo Francesco O
- Logullo Francesco O
- Loi Daniela
- Lu Yi-Fan
- Ludolph Albert C
- Luigetti Marco
- Lumbroso Serge
- Lumbroso Serge
- Lunetta Christian
- Lunetta Christian
- MacGowan Daniel J
- MacGowan Daniel J.L
- Maderna Luca
- Maiser Samuel
- Malaspina Andrea
- Malaspina Andrea
- Mancardi Gianluigi
- Mandich Paola
- Mandrioli Jessica
- Mandrioli Jessica
- Manera Umberto
- Maniatis Tom
- Manousakis George
- Maragakis Nicholas J
- Maragakis Nicholas J
- Marangi Giuseppe
- Marangi Giuseppe
- Marinou Kalliopi
- Marrali Giuseppe
- Marrosu Francesco
- Marrosu Maria Giovanna
- Mazzini Letizia
- Mazzini Letizia
- McCauley Jacob
- McKenna-Yasek Diane
- McKenna-Yasek Diane
- McLaughlin Russell
- McLaughlin Russell L
- McMillan Corey
- Meininger Vincent
- Meitinger Thomas
- Melis Maurizio
- Messina Sonia
- Middelkoop Bas
- Middelkoop Bas
- Milia Antonio
- Mill Jonathan
- Miller Timothy M
- Miller Timothy M
- Moglia Cristina
- Moisse Matthieu
- Moisse Mattieu
- Monsurrò Maria Rosaria
- Mora Gabriele
- Mora Gabriele
- Mora Jesús S
- Moreno Cristiane de Araujo Martins
- Morrison Karen
- Morrison Karen E
- Mosca Lorena
- Mouzat Kevin
- Mouzat Kevin
- Murphy Natalie A
- Murru Maria Rita
- Musunuri Rajeeva Lochan
- Muñoz-Blanco José Luis
- Myers Richard M
- Myers Richard M
- Myllykangas Liisa
- Nalls Mike A
- Nath Avindra
- Neto Miguel Mitne
- Newhouse Stephen
- Nicholson Garth A
- Nicolas Aude
- Occhineri Patrizia
- Origone Paola
- Orrell Richard W
- Ortu Enzo
- Ossola Irene
- Ostrow Lyle W
- Ostrow Lyle W
- Pal Suvankar
- Pamphlett Roger
- Pani Carla
- Pardina Jesus Mora
- Parish Leslie D
- Patsopoulos Nikolaos A
- Penco Silvana
- Penny Michelle
- Pensato Viviana
- Petrovski Slavé
- Petrucci Antonio
- Peverelli Silvia
- Phatnani Hemali
- Phatnani Hemali
- Piccirillo Giovanni
- Pickering-Brown Stuart
- Pinter Giuseppe Lauria
- Pinto Susana
- Pioro Erik
- Pioro Erik P
- Piras Valeria
- Pirisi Angelo
- Pisano Fabrizio
- Pliner Hannah A
- Polak Meraida
- Poletti Barbara
- Puddu Roberta
- Pugliatti Maura
- Pulit Sara
- Pulst Stefan M
- Pulst Stefan M
- Querin Giorgia
- Rademakers Rosa
- Rademakers Rosa
- Rampersaud Evadnie
- Rampersaud Evadnie
- Raphael Alya R
- Ratti Antonia
- Ratti Antonia
- Ravits John
- Ravits John M
- Ravits John M
- Redondo Alberto Garcia
- Ren Zhong
- Renton Alan E
- Restagno Gabriella
- Ricci Claudia
- Riva Nilo
- Riva Nilo
- Rivera Alberto M
- Robberecht Wim
- Robberecht Wim
- Rogaeva Ekaterina
- Rollinson Sara
- Rothstein Jeffrey D
- Rothstein Jeffrey D
- Rouleau Guy A
- Rouleau Guy A
- Sabatelli Mario
- Sabatelli Mario
- Salvi Fabrizio
- Salvi Fabrizio
- Santarelli Marialuisa
- Sapp Peter C
- Sapp Peter C
- Sareen Dhruv
- Scholz Sonja W
- Schule Rebecca
- Shankaracharya
- Shatunov Aleksey
- Shatunov Aleksey
- Shaw Chris
- Shaw Christopher E
- Shaw Pamela
- Shaw Pamela J
- Sherman Alexander
- Shneider Neil A
- Siciliano Gabriele
- Sideri Riccardo
- Sidle Katie C
- Silani Vincenzo
- Silani Vincenzo
- Simmons Zachary
- Simmons Zachary
- Simone Isabella
- Simone Isabella L
- Simpson Ericka
- Sims Katherine B
- Singleton Andrew B
- Smith Bradley N
- So Yuen
- Sorarù Gianni
- Sorarù Gianni
- Spataro Rossella
- Sproviero William
- Staropoli John F
- Statland Jeffrey
- Stone David J
- Strom Tim M
- Svendsen Clive N
- Svendsen Clive N
- Swenson Andrea
- Talbot Kevin
- Tanel Raffaella
- Taroni Franco
- Taroni Franco
- Taylor J. Paul
- Taylor J. Paul
- Tazelaar Gijs
- Tedeschi Gioacchino
- ten Asbroek Anneloor L.M.A
- Thompson Leslie M
- Thompson Leslie M
- Ticca Anna
- Ticozzi Nicola
- Ticozzi Nicola
- Tienari Pentti
- Tiloca Cinzia
- Tiloca Cinzia
- Topp Simon D
- Tranquilli Stefania
- Traynor Bryan J
- Tremolizzo Lucio
- Trivedi Jaya
- Troakes Claire
- Trojanowski John Q
- Trojsi Francesca
- Trojsi Francesca
- Troncoso Juan C
- Turner Martin R
- Twine Natalie A
- Valori Miko
- Van Blitterswijk Marka
- van Damme Philip
- Van Damme Philip
- Van Deerlin Vivianna M
- Van Deerlin Vivianna M
- van den Berg Leonard
- van den Berg Leonard H
- Van Den Bosch Ludo
- van der Spek Rick
- Van der Spek Rick A
- van Eijk Kristel
- Van Eijk Kristel R
- van Es Michael
- Van Es Michael A
- Van Eyk Jennifer E
- Van Eyk Jenny
- van Rheenen Wouter
- van Rheenen Wouter
- van Vugt Joke
- van Vugt Joke J.F.A
- Vance Caroline
- Veldink Jan
- Veldink Jan H
- Verde Federico
- Verde Federico
- Volanti Paolo
- Volanti Paolo
- Vourch Patrick
- Waite Lindsay L
- Walk David
- Wallace Marielle
- Wang Leo
- Wang Quanli
- Weber Markus
- Weber Markus
- Weishaupt Jochen H
- Williams Kelly L
- Williams Kelly L
- Wimbish Jack R
- Wu Gang
- Wu Gang
- Wuu Joanne
- Wuu Joanne
- Wyman Stacia
- Wyman Stacia K
- Xin Winnie W
- Zaitlen Noah
- Zatz Mayana
- Zhang Jinghui
- Zinman Lorne
- Zody Michael C
- Zollino Marcella
- Züchner Stephan
- Publication venue
- Publication date
- 01/01/2018
- Field of study
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
- Author
- Abramzon Yevgeniya
- Abramzon Yevgeniya
- Adeleye Adelani
- Ahmed Sarah
- Al Khleifat Ahmad
- Al-Chalabi Ammar
- Al-Chalabi Ammar
- Al-Saif Hind
- Alahmady Nada
- Alba Camille
- Angelocola Stefania M.
- Arepalli Sampath
- Asress Seneshaw
- Ausiello Francesco P.
- Baas Frank
- Bacikova Dagmar
- Baloh Robert H.
- Barberis Marco
- Bartolomei Ilaria
- Basak A. Nazli
- Battistini Stefania
- Bersano Enrica
- Bertolin Cinzia
- Bisogni Giulia
- Blair Ian P.
- Blair Ian P.
- Bonkowski Emily S.
- Borghero Giuseppe
- Bowser Robert
- Brady Christopher B.
- Brice Alexis
- Broach James
- Brown Robert H.
- Brown Robert H.
- Brunetti Maura
- Cabona Corrado
- Calvo Andrea
- Calvo Andrea
- Campbell Roy H.
- Camu William
- Canale Fabrizio
- Canosa Antonio
- Cantisani Teresa A.
- Capasso Margherita
- Caponnetto Claudia
- Cardinali Patrizio
- Carrera Paola
- Casale Federico
- Castellotti Barbara
- Cereda Cristina
- Ceroni Mauro
- Chang Irene J.
- Chia Ruth
- Chia Ruth
- Chiò Adriano
- Chiò Adriano
- Chiò Adriano
- Colletti Tiziana
- Colombrita Claudia
- Comi Giacomo P.
- Conforti Francesca L.
- Conte Amelia
- Conti Elisa
- Cookson Mark R.
- Cooper-Knock John
- Corbo Massimo
- Corrado Lucia
- Corti Stefania
- Crawford Thomas O.
- Cuccu Stefania
- D'Alfonso Sandra
- D'Errico Eustachio
- Dalgard Clifton L.
- Dalgard Clifton L.
- Dalla Bella Eleonora
- Del Bo Roberto
- Demarco Giovanni
- Ding Jinhui
- Dobson-Stone Carol
- Drepper Carsten
- Drory Vivian E.
- Dubbioso Raffaele
- Duga Stefano
- Dunckley Travis L.
- Eicher John D.
- England Bryce K.
- Esteban-Pérez Jesús
- Faghri Faraz
- Fallini Claudia
- Feldman Eva
- Ferrarese Carlo
- Ferraro Pilar M.
- Filippi Massimo
- Fini Nicola
- Floeter Mary Kay
- Floris Gianluca
- Fratta Pietro
- Fuda Giuseppe
- Gagliardi Stella
- Gallone Salvatore
- García-Redondo Alberto
- Geiger Joshua T.
- Gellera Cinzia
- Gellera Cinzia
- Gerhard Glenn
- Gianferrari Giulia
- Giannini Fabio
- Gibbs J. Raphael
- Gibbs J. Raphael
- Gibson Summer B.
- Gkazi Athina Soragia
- Glass Ian
- Glass Jonathan D.
- Glass Jonathan D.
- Gotkine Marc
- Grassano Maurizio
- Greco Lucia
- Hardiman Orla
- Hardy John
- Harms Matthew B.
- Heiman-Patterson Terry D.
- Hernandez Dena G.
- Hupalo Daniel N.
- Iacoangeli Alfredo
- Iazzolino Barbara
- Introna Alessandro
- Jansson Lilja
- Johnson Janel O.
- Jones Ashley R.
- Keagle Pamela
- Kenna Kevin P.
- King Andrew
- Kirby Janine
- Kowall Neil W.
- Kumaran Ravindran
- Kwok John B.
- La Bella Vincenzo
- Laaksovirta Hannu
- Landeck Natalie
- Landers John E.
- Landers John E.
- Landers John E.
- Landi Francesco
- Lattante Serena
- Lauria Giuseppe
- Lauria Giuseppe
- Le Ber Isabelle
- Leblond-Manry Claire
- Leigh Fawn
- Li Rachel
- Liguori Rocco
- Logroscino Giancarlo
- Logullo Francesco O.
- Lumbroso Serge
- Lunetta Christian
- Macgowan Daniel J.L.
- Mandich Paola
- Mandrioli Jessica
- Manera Umberto
- Manganelli Fiore
- Maragakis Nicholas J.
- Marangi Giuseppe
- Marinou Kalliopi
- Marrosu Maria Giovanna
- Martinelli Ilaria
- Martinez Elisa Mc Grath
- Mazzini Letizia
- McKenna-Yasek Diane
- McLaughlin Russell L.
- Messina Sonia
- Miller Danny E.
- Moglia Cristina
- Mora Gabriele
- Mora Gabriele
- Mora Gabriele
- Morrison Karen E.
- Morrison Karen E.
- Mosca Lorena
- Mouzat Kevin
- Murphy Natalie A.
- Murru Maria R.
- Myllykangas Liisa
- Nalls Mike A.
- Nicholson Garth A.
- Origone Paola
- Orrell Richard W.
- Ostrow Lyle W.
- Pall Hardev
- Palvadeau Robin
- Pamphlett Roger
- Passaniti Carla
- Pensato Viviana
- Perlman Seth J.
- Petrelli Cristina
- Petrucci Antonio
- Pickering-Brown Stuart
- Pioro Erik P.
- Pletnikova Olga
- Pliner Hannah A.
- Polak Meraida
- Pollard Harvey B.
- Pozzi Susanna
- Pugliatti Maura
- Pulst Stefan M.
- Quattrini Angelo
- Querin Giorgia
- Rademakers Rosa
- Ratti Antonia
- Ravits John M.
- Renton Alan E.
- Renton Alan E.
- Ricci Claudia
- Riolo Giulia
- Riva Nilo
- Rivera Alberto
- Robberecht Wim
- Rogaeva Ekaterina
- Rollinson Sara
- Rothstein Jeffrey D.
- Rouleau Guy A.
- Russo Massimo
- Sabatelli Mario
- Sabir Marya S.
- Salamone Paolina
- Salivetto Marco
- Salvi Fabrizio
- Santarelli Marialuisa
- Sbaiz Luca
- Scholz Sonja W.
- Scott Anna I.
- Scotter Emma L.
- Sendtner Michael
- Shatunov Aleksey
- Shaw Christopher E.
- Shaw Christopher E.
- Shaw Pamela J.
- Shaw Pamela J.
- Shaw Pamela J.
- Sideri Riccardo
- Sidle Katie C.
- Silani Vincenzo
- Silani Vincenzo
- Simmons Zachary
- Simone Isabella
- Simonini Cecilia
- Singleton Andrew B.
- Smith Bradley N.
- Smith Bradley N.
- Smith Nathan
- Soltis Anthony R.
- Sorarù Gianni
- Spataro Rossella
- Stevic Zorica
- Stone David J.
- Sukumar Gauthaman
- Talbot Kevin
- Tanel Raffaella
- Taroni Franco
- Tedeschi Gioacchino
- Ten Asbroek Anneloor L.M.A.
- Ticca Anna
- Ticozzi Nicola
- Ticozzi Nicola
- Tienari Pentti J.
- Tienari Pentti J.
- Tiloca Cinzia
- Topp Simon D.
- Topp Simon D.
- Torriello Antonella
- Tranquilli Stefania
- Traynor Bryan J.
- Traynor Bryan J.
- Tremolizzo Lucio
- Troakes Claire
- Troakes Claire
- Trojsi Francesca
- Troncoso Juan C.
- Turner Martin R.
- Vacchiano Veria
- Valori Miko
- Van Blitterswijk Marka
- Van Damme Philip
- Van Deerlin Vivianna M.
- Van Den Berg Leonard H.
- Van Den Bosch Ludo
- Van Rheenen Wouter
- Vance Caroline
- Vasta Rosario
- Veldink Jan H.
- Viollet Coralie
- Vita Giuseppe
- Volanti Paolo
- Wilkerson Matthew D.
- Williams Kelly L.
- Wu Zheyang
- Zinman Lorne
- Zollino Marcella
- Zucchi Elisabetta
- Publication venue
- Publication date
- 01/01/2021
- Field of study
Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
- Asomugha Chinwe O.
- Asuncion Lawreen
- Atkin Deborah
- Atkinson Andrea
- Atkinson Barry
- Attix Cristina
- Attwood John
- Aubin Keith
- Auger Katherine
- Austin Shannon Michelle
- Avila Aaron
- Avis Terry
- Ayele Mulu
- Babayan Primo
- Babbage Anne
- Babbage Sarah
- Bach Phil
- Bachatsang Pasang
- Bacon Joanne
- Badri Hummy
- Baertsch Robert
- Bagguley Claire
- Bailey Jonathan
- Bajorek Eva
- Baker Andrew
- Baker Dan
- Baker M.
- Baker Richard
- Bakis Michele
- Baldwin Jennifer
- Banda Michael
- Banerjee Ruby
- Bao Jingyue
- Bao Qiyu
- Bao Weidong
- Bao Weidong
- Baptiste Pertrice
- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
- Barker Daniel
- Barker Darren
- Barker Gary
- Barlow Karen
- Baron Laurent
- Barrett Anika
- Bartlett Rebecca
- Basham Victoria
- Bashman David
- Basu Suba
- Bateman Alex
- Bates Karen
- Battles John
- Batzer Mark
- Baumgart Cornelia
- Baumohl Jason
- Baynes Caroline
- Bayul Tashi
- Beall Keith
- Beard Lisa
- Beard Susan
- Beare David
- Beasley Alastair
- Beasley Helen
- Beasley Oliver
- Beaucham Leslie
- Beaudet Arthur
- Beck Alfred
- Beck Stephen
- Becker Michael
- Bell Emma
- Bell George I.
- Bellard Terell M.
- Bellerby Damian
- Bellerby Tristram
- Belter Edward A., Jr.
- Bemrose Richard
- Benard Michael Anthony
- BenKahla Alia
- Benke J
- Benner William
- Bennett James
- Bensasson Douda
- Bentley Andrew
- Bentley Dan
- Bentley David
- Berardinis Véronique de
- Bercovitz John
- Berghoff Amy
- Bergmann Anne
- Berkowicz Nicolas
- Berks Mary
- Berks Michael
- Bethel Graeme
- Beugelsdijk Tony J.
- Bhakta Rita
- Bhuchar Venita
- Bi Shihua
- Bian Xuemeng
- Bieri Tamberlyn
- Bimage Kesha E.
- Bird Christine
- Birditt Brian
- Birney Ewan
- Birney Ewan
- Birren Bruce
- Bissell Helen
- Biswalo Kaneza
- Bituin Aleksandr
- Black Stacey
- Blackburne-Maze Suzanne
- Blair Jessica Anne
- Blakey Sarah
- Blanks Tia
- Blasiar Darin
- Blazej Robert
- Blitshsteyn Berta
- Blomstrom David B.
- Bloom Scott
- Bloom Toby
- Blumer Heather
- Blye Jason
- Blyth Peter R.
- Blöcker Helmut
- Boatright Elizabeth
- Boehm John
- Boen Juanan
- Boguslavskiy Leonid
- Bolton Christel
- Bolund Lars
- Bondoc Marnel
- Bonfield James
- Bonnett Ralph
- Bonnin David
- Border Richard
- Borowsky Mark
- Borzym Katja
- Boukhgalter Boris
- Bowen Eric
- Bradley Amanda
- Bradshaw-Cordum Holly
- Brady Nicola
- Brandriff Brigitte F.
- Brannon Wade
- Branscomb Elbert
- Bray Jason
- Bray-Allen Sarah
- Brettin Thomas
- Bridgeman Anne
- Bridgers Michael
- Brimhall Angela K.
- Brokstein Peter
- Brook Jonathan
- Brooking Shane
- Brottier Philippe
- Brown Andrew
- Brown Clive
- Brown Jacqui
- Brown Margaret
- Brown Mary
- Brown Mary J.
- Brown Michael
- Brown Nancy C.
- Bruce David D.
- Bruce Robert
- Bruno William J.
- Bruskiewich Richard
- Bryant Jackie
- Bryant Jennifer E.
- Bryant Nathaniel P.
- Brüls Thomas
- Buatsi Delali
- Buck David
- Buckingham Judith M.
- Buckle Veronica
- Buczek Donald
- Budd Claire
- Buhay Christian J.
- Bulbul Kerem
- Buller Sarah
- Bunker Nathan
- Burberry Jill
- Burch Paula Ellen
- Burford Deborah
- Burgess Joanne
- Burgin Matt
- Burkett Carrie E.
- Burkhart-Schultz Karolyn
- Burrell Kevin L.
- Burrill Wayne
- Burrows Christine
- Burton Christine
- Burton John
- Butcher Phil
- Butler Adam
- Butler Jon
- Butler Paul
- Caenepeel Sean
- Cahill Patrick
- Cai Tianjing
- Cai Zhen
- Cairns Murray
- Calderon Eliana
- Callen David F.
- Camarata Jody
- Camire David
- Camm Nick
- Campbell Christopher
- Campbell Connie S.
- Campbell Evelyn W.
- Campbell Mary I.
- Campbell Mary L.
- Campo Kevin
- Canning Bruno
- Cao Ting
- Cao Yuzhu
- Caoile Chenier
- Cardenas Faviola
- Cardenas Lolo
- Cardenas Veronica
- Carder Carol
- Carder Paul
- Carpenter Kelly
- Carrano Anthony V.
- Carriere Jason
- Carter Jason
- Carter Kelvin
- Carter Nigel
- Caruso Lauren
- Casias Kristal
- Cattolico Laurence
- Cavanna Tamara
- Cavazos Iracema
- Cavazos Sandra R.
- Ceasar Heather
- Cedroni Maria
- Cepeda Mario
- Chacko Joseph
- Chain Patrick
- Chalk Shani
- Challacombe Jean F.
- Chan Ka
- Chan Sheryl N.
- Chan Yee Man
- Chang Jean L.
- Chapman Jarrod
- Chapman Joanna
- Chapple Jeffrey
- Charles Rachel
- Chasteen Leslie A.
- Chavarria Simeon
- Chazaro Bruno
- Chen Baoxian
- Chen Bin
- Chen Chira
- Chen Chong
- Chen Chong
- Chen Chun-Nan
- Chen Cong
- Chen Ellson
- Chen Hsiu-Chuan
- Chen Jianlong
- Chen Jie
- Chen Jin
- Chen Junbao
- Chen Lihong
- Chen Lixia
- Chen Ray
- Chen Shu
- Chen Tong
- Chen Xiaoyun
- Chen Xinyi
- Chen Yanjiong
- Chen Yiyu
- Chen Zhu
- Chen Zhu
- Chen Zhu
- Cheng Jan-Fang
- Cheng Zhihua
- Chertkov Olga
- Cheshatsang Yama
- Chi Cheng
- Chi Han C.
- Chillingworth Neil
- Chin Sylvia
- Chinn Corey
- Chinwalla Asif
- Chissoe Stephanie
- Chiu Sally
- Chothia Tom
- Christensen Mari
- Christopoulos Constantine
- Chu Joseph
- Chui Connie
- Chung A
- Cinkowsky Michael J.
- Citroen Mieke
- Clack Rob
- Clamp Michele
- Clark Anthea
- Clark Graham
- Clark Kevin
- Clark Lynn
- Clark Lynn M.
- Clark Richard
- Clark Sarah
- Clark Sue
- Clarke Adrian
- Clarke Betty
- Clarke Eddie
- Clarke Kay
- Clarke Laura
- Clawson Hiram
- Clee Chris
- Clegg Shelia
- Clerc Blankenburg Kerstin Petra
- Cleveland David
- Clifford Karen
- Clifton Sandra W.
- Coates Julia
- Cobley Victoria
- Cockrell Raynard
- Coffey Alison
- Cofield Jackie
- Coggill Penelope
- Cohn Judith D.
- Colayco Rick
- Cole Lotte
- Collier Rachael
- Collings Simon
- Collins Francis S.
- Collins John
- Collins Philip
- Collymore Al
- Colman Louise
- Combs Jessie
- Comstock Robin
- Cong Bin
- Conner Richard
- Connolly Anthony
- Connolly Karen
- Conquer Jennie
- Conrad Ansgar
- Conroy Donald
- Considine Tony
- Constance Doug
- Cook April
- Cook Leanna
- Cooke Patrick
- Cooper Jonathan
- Cooper Rachel
- Cooper Robert
- Copeland Alex
- Coppola Maria
- Copsey Teresa
- Corby Nicole
- Cordes Matt
- Cordray Rebecca
- Cornell Christine
- Cornell Earl
- Cornell Linda
- Cornell Ruth
- Corum Ben
- Cottage Amanda
- Cotton Sara
- Coulson Alan
- Couronne Olivier
- Courtney Laura P.
- Coville Gez
- Cox Anthony
- Cox Caroline D.
- Cox Tony
- Coxhill Robert
- Coyle Marcus D.
- Craig Matthew
- Crane Tom
- Crawford Amanda L.
- Crawley Matt
- Cree Andrew
- Crespeau Hervé
- Crew Victor
- Critchlow Terrance
- Critz Paul
- Cruaud Corinne
- Cuff James
- Cui Hongjuan
- Cui Jinhui
- Cui Peng
- Cui Peng
- Culley Karl
- Cummings Auli
- Cummings Kirsti
- Cummings Paul
- Cummings Stephanie
- Cuomo Christina A.
- Curran Adam
- Curwen Valery
- Cutts Jeffrey
- Czubayko Martin
- D\u27Souza Lisa Marie
- Da Silva Corinne
- Dai Li
- Dalin Eillen
- Dang Michelle
- Danganan Linda
- Daniels Rachael
- Dathorne Stephanie R.
- Daum Christopher
- David Robert
- Davidson Lucy
- Davidson Stuart
- Davies Jonathon
- Davies Joy
- Davies Nicholas
- Davies Robert
- Davila Mary Louise
- Davis Candi Mon\u27et
- Davis Cheryl
- Davis Clay
- Davis Jayne
- Davis John
- Davis Matthew
- Davy-Carroll Latarsha
- Dawoe Tenzin
- Dawson Elisabeth
- De Anda Claudia
- De Latorre Andrea
- Deadman Rebecca
- Dean Peter
- Dear Simon
- Dearden Frances
- DeArellano Kurt
- Deaven Larry I.
- Deaven Larry L.
- Deere Kerry
- DeGray Stewart
- Degusta David
- Deguzman Maria
- Dehal Paramvir
- Delgado Marcos
- Delgado Oliver
- Delhaunty Kimberley
- Deloukas Panos
- Deng Yajun
- Dennis Janet
- Denson Shawn
- Denys Mirian
- Deramo Christine
- Desai Anu
- Detter John C.
- Devlin Laurie
- Dewar Ken
- Dhami Pawandeep
- Dhongsar Chemey
- Dias Jennifer
- Dias Victoria
- Dibartolo Genevieve
- Dibling Catherine
- Dickson Mark
- Diekhans Mark
- Dietz-Band Jeanne
- Digennaro Richard
- Dilts Karen
- Dimitrijevic-Bussod Mira
- Ding Hao
- Ding Keyue
- Ding Li
- Ding Yan
- Dinh Huyen H.
- Dixon Kami
- Do Long
- Dobbs Ruth
- Dobson Richard
- Dockree Catherine
- Doddington Daniel
- Dodsworth Steven
- Doggett Norman
- Doggett Norman A.
- Dong Hui
- Dong Kimberly
- Dong Wei
- Dong Wei
- Dong Xiaojia
- Donlin Jeremy E.
- Dooley Kathy
- Dooling David
- Dorje Passang
- Dorjee Kunsang
- Dorris Lester
- Dorsett Victor
- Doucette-Stamm Lynn
- Douthwaite Karen J.
- Down Thomas
- Draper Heather
- Du Feiyu
- Du Hui
- Du Yutao
- Duarte Suzanne
- Dubchak Inna
- Duffy Noah
- Dugan-Rocha Shannon
- Dunham Andrew
- Dunham Ian
- Dunn Adam M.
- Dunn Anne
- Dunn Matthew
- Dunwell Erin
- Dupes Alan
- Durbin Kenneth J.
- Durbin Richard
- Durham Jillian
- Dutta Ireena
- Dwyer Ruth
- Dyer Lauren
- Dziuda Darius
- Earnhardt Christopher D.
- Earthrowl Mark
- Eastham Emma
- Eastham Timothy
- Eaves Kristy A.
- Eckenberg Ralph
- Edgar Darren
- Edionwe Susan Omwanghe Osayanro
- Edwards Carol
- Edwards Jennifer
- Edwards Karen
- Egan Amy
- Eichler Evan
- Eichler Evan
- Ejima Fumio
- Elkin Chris
- Ellington Andrew
- Elliot David
- Elliot Glendoria
- Elliot Jeffrey
- Ellwood Matthew
- Emberson Becky
- Emelianenko Natalia
- Emery-Cohen Alexandra J.
- Endrizzi Matthew
- Engh Ger van den
- Engle David
- Erickson Jeffery
- Erler Anne Marie
- Errington Helen
- Escobar Julio
- Escotto Michael
- Eugene Craig S.
- Evans Gareth
- Evans John
- Evans Katie
- Evans Richard
- Eveleth Gerald
- Eyras Eduardo
- Fan Hongyuan
- Fan Keke
- Fang Jianqiu
- Farina Abderrahim
- Faro Susan
- Faulkner Louisa
- Fawcett Joseph J.
- Fechtel Kim
- Fellingham Charlotte
- Felming Claire
- Felsenfeld Adam
- Feltwell Theresa
- Feng Guodong
- Feng Haiyan
- Feng Jie
- Feng Xiaoli
- Fennell Stephen
- Ferguson Alicia
- Fernandez Sonia
- Fernandez-Suarez Xose
- Fernando Pushpa Ranjani
- Ferriera Pat
- Fertitta Anne
- Fey Jim
- Fidel Patrick
- Fields Elizabeth
- Fink Marie
- Finley Maria C.
- Finn Robert
- Fischer Heather
- Fischer Laurice
- Fisher Shelia
- Fitch Pat
- Fitzgerald Mike
- Flack Tina
- Flagg Nicole
- Flanagan J.
- Fleming Kerry
- Flint Jonathan
- Flint Mark
- Flowers Dave
- Floyd Yvonne
- Foley Karen
- Folta Peg
- Fong Jonathan
- Fonknechten Núrua
- Footman Simon
- Forbes Lisa D.
- Ford Amanda F.
- Foster Myre J.
- Fotopulos Dea
- Fourcade Matthew
- Fowler John
- Fox Jessica
- Frame Deborah
- Francis Matthew
- Francis Stephen
- Frankel Ken
- Frankish Adam
- Frankland John
- Fraser Audrey
- Fraser David
- Frazier Marvin
- French Lisa
- Fricker David
- Fridlyand Jane
- Fronick Catrina
- Frost Carole
- Frost Daniel
- Frost Jackie
- Frost Lorna
- Fu Gang
- Fu Gang
- Fu Gang
- Fu Qiushi
- Fujioka Michiru
- Fujiyama Asao
- Fukawa Rintaro
- Fuller Liam
- Fuller Sharin
- Fullerton Kathryn
- Fulton Lucinda A.
- Fulton Robert S.
- Furey Terrence S.
- Furuhashi Mie
- Förste Silke
- Gabisi Abdul M.
- Gage Diane
- Gaige Tony
- Galgoczy Petra
- Gallegos Celsa
- Galvez Michael
- Gammon Stuart
- Gao Anwu
- Gao Jimei
- Gao Quan
- Gao Yang
- Gao Yimei
- Garcia Carmen
- Garcia Emilio
- Garcia Marvin
- Garcia Ricardo M, III
- Garcia-Martinez Antonio
- Gardner Alison
- Gardner Alison
- Garduno Consuelo
- Gardyna Steph
- Garner Patrick
- Garner Toni T.
- Garnes Jeffrey A.
- Garnett Jane
- Garza Melissa
- Gatewood Joseph M.
- Gatland Leigh
- Gatland Lindsay
- Gattung Stacie
- Gay Laura
- Gearin Gary
- Gebreyesus Binyam
- Gelein Cynthia
- Gelpke Maartin
- Gench Stephanie L.
- Geng Jianing
- Georgescu Anca
- Geotina Amy
- Ghori Jilur
- Ghose Sayantan
- Gibbs Ben
- Gibbs Richard A.
- Gibson Diane
- Gibson Elizabeth
- Gifford Mary
- Gil Isaias
- Gilbert James
- Gilby Lisa
- Gill Rachel
- Gillet Will
- Gillson Christopher
- Gilna Paul
- Gimmel Verena
- Gingrich Jeff
- Giovanelli Kira
- Glavina Tijana
- Glithero Rebecca
- Glöckner Gernot
- Gnerre Sante
- Gnirke Andreas
- Gold Darren
- Golinveaux Kristen
- Gomez Maria
- Gong Guanghui
- Gong Jinying
- Gonzales Eidelyn
- Gonzalez Guillermo B.
- Gooderham April
- Goodstadt Leo
- Goodstein David
- Goodwin Lynne A.
- Gordon Catherine
- Gordon Laurie A.
- Gordon Seth
- Gorton Matthew
- Gorvad Ann
- Gould Christine
- Goyea Ernest
- Goyette Audra
- Grady Deborah I.
- Grady Michelle L.
- Grafham Darren
- Graham Joe
- Grandbois Edward
- Grant Jennifer
- Grant Michael
- Grant Susan
- Graves Tina A.
- Gray Bruce
- Gray Emma
- Gray Lain
- Green Lisa
- Greenhalgh James
- Greenhill Joe
- Gregg Philippa
- Gregory Simon
- Grewal Nennu
- Gribble Susan
- Griffith Jeffrey K.
- Griffiths Coline
- Griffiths Ed
- Griffiths Mark
- Griffiths-Jones Sam
- Grigoriev Igor
- Grimwood Jane
- Grocock Russell
- Groza Matthew
- Gu Jingli
- Gu Jun
- Gu Jun
- Gu Wenyi
- Gu Wenyi
- Gu Xiaochang
- Guan Qiaoning
- Guarin Hannibal
- Guel Metzalli
- Guerra William
- Guevara Whitney V.
- Gui Qi
- Gunaratne Preethi
- Gunning Kate
- Guo Daorong
- Guo Jane
- Guo Lili
- Gustafson Erik
- Guthrie Ian
- Guyer Mark
- Gwilliam Rhian
- Gyaltsen Kunsang
- Gyapay Gábor
- Görlich Yvonne
- Ha Chi
- Hafez Nabil
- Haglund Krista
- Hagopian Daniel
- Hagos Birhane
- Haim Allen
- Hajek Patrick
- Hall Brett Lynn
- Hall Brittany
- Hall Jennifer
- Hall Rebekah
- Hall-Tamly Gretta
- Halls Karen
- Hallsworth-Pepin Kym
- Hamada Junko
- Hamilton Cerissa
- Hamilton Keelan A.
- Hamilton Matt
- Hamlett John
- Hamlett John
- Hammon Nancy
- Hammond Martin
- Hammond Sha
- Hammond Sian
- Hamza Khalid
- Han Guiqing
- Han Shunsheng
- Han Xurong
- Hanak Vincent A.
- Hancock Julie
- Harbes Brandy A.
- Harding Adam
- Harkins C. Richard
- Harley Joanne
- Harper David
- Harper Georgina
- Harper Patrik
- Harradence Grant
- Harris Anthony
- Harrison Charlene-Lou
- Harrison Elliot
- Harrison Ruth
- Hart Elizabeth
- Hasegawa Tomoko
- Hashimoto Etsuko
- Hashimoto Wakako
- Hassan Daniel
- Hatcher Beath
- Hattori Masahira
- Haugen Eric
- Haussler David
- Havlak Paul
- Hawes Alicia C.
- Hawkins Ebere Sylvia Onyirioha
- Hawkins Natalie
- Hawkins Trevor
- Hawley Kellie
- Haydu Lauren
- Hayes Kerry
- He Fengying
- He Jiaying
- He Lin
- Heaford Andrew
- Heath Paul
- Heathcott Rosemary
- Heilig Roland
- Heiner Cheryl
- Heinze Ivonne
- Heitmann Katja
- Helfenbein Keven
- Heller Andrew
- Hellsten Uffe
- Hembry Cathy
- Henderson Carl
- Henderson Nicholas
- Henderson Nina
- Hendrix David
- Hennig Steffen
- Henning Karla
- Hepa Victor
- Herd Tim
- Herman Charles
- Hernandez Judith
- Hernandez Omar
- Herseim Allyson
- Hewitt Stephen
- Heyen Joshua
- Higgs Douglas
- Hildebrand Carl E.
- Hillier LaDeana
- Hillyard Guy
- Hines Sandra
- Hinkins Russell
- Hinrichs Angela S.
- Hitchens Matthew Edward
- Ho Issac
- Ho Sara-Jane
- Hodgson Anne V.
- Hodgson David
- Hoffman Susan M.G.
- Hoffs Michael
- Hogues Marilyn E.
- Holden Jane
- Holdgate Janet
- Hollaway Mara
- Hollins Barbara
- Holloway Ele
- Holmes Andrea
- Holmes Ian
- Holmes Sarah
- Holroyd Simon
- Holtz Ann
- Holtzer Caleb
- Homsi Deana K.
- Homsi Farah J.
- Honan Tracy
- Hood Leroy
- Hooper Alison
- Hopewell Lucy
- Hopkins Ben
- Horne Jennifer
- Hornett Gary
- Hornischer Klaus
- Hornsby Amber
- Hornsby Geoff
- Hornsby Tony
- Horsley Sharon
- Horton Roger
- Hosage-Norman Catherine
- Hosoda Kei
- Hosono Katsuhiro
- Hosseini Roya
- Hou Shunfang
- Hou Xiaodi
- Houde Nathan
- Howard Philip
- Howard Stephanie R.
- Howden Philip
- Howe Kevin
- Howell Gareth
- Howell Latoya Lynette
- Howells Sally Lucinda
- Hsu Fan
- Hu George
- Hu Jie
- Hu Songnian
- Huang Fang
- Huang Guyang
- Huang Katherine
- Huang Mei
- Huang Wayne
- Huang Wei
- Huang Wei
- Huang Wei
- Huang Zhengping
- Hubbard Timothy
- Huber James W.
- Huckle Elizabeth
- Hue Heather
- Hughes Jaime
- Hughes Jennifer
- Hughes Lee
- Hughes-Hull Hillary
- Hull Louisa
- Hulme Bill
- Hulyk Steven
- Hume Jennifer
- Hummeric Holger
- Humphray Sean
- Humphries David
- Humphries Matthew
- Hunt Adrienne
- Hunt Michael
- Hunt Paul
- Hunt Sarah
- Hunter Giselle
- Hunter Rov, II
- Hupman Matt
- Huynh Sandy
- Hyde David
- Hynds Christopher
- Idlebird Devincent G.
- Iliev Ilian
- Imbro Paula
- Imo Kelvin C.
- Inacio Nicole
- Inagaki Naomi
- Ince Michael
- Ingram Drew
- Inoue Shuuji
- Isak Amber
- Isherwood Judith
- Ishibashi Akiko
- Ishikawa Sabine K.
- Ishizaki Hinako
- Isozaki Emi
- Israni Sanjay
- Ito Fumiaki
- Ito Noriko
- Itoh Takehiko
- Iwakawa Shinobu
- Iwatate Mariko
- Iwatsu Mikiko
- Iyer Vivek
- Izatt Janet
- Izmajlowicz Monica
- Izumiyama Tomohiro
- Jacintho Mark
- Jackson Laronda R.
- Jackson Terri
- Jacob Leni Susan
- Jaeger Sara
- Jaffe David B.
- Jahn Niels
- Jaklevic Joseph
- Jaklevic Michael
- James Kent W.
- Jareborg Niclas
- Jarek Michael
- Jassal Bijay
- Jeffery Grant
- Jeffery Kim
- Jeffrey Colin
- Jekosch Kerstin
- Jenkins Lee
- Jett Jamie
- Jewett Phillip E.
- Jia Jia
- Jia Jia
- Jia Nan
- Jia Xingchang
- Jiang Lu
- Jiang Yanrui
- Jiang Ziyou
- Jimenez Alberto
- Jin Jian
- Jin Yetao
- Jin Yongsan
- Johansen Tina
- Johnson Bennie
- Johnson Cheryl
- Johnson Christopher
- Johnson David
- Johnson Douglas
- Johnson Genevieve
- Johnson Lori
- Johnson Mark
- Johnson Philip
- Johnson Rudy
- Johnson Stephanie
- Jolivet Angela
- Jolley Keith
- Jones Abigail
- Jones Charlien
- Jones Claire
- Jones Juliet
- Jones Matthew
- Jones Michael
- Jones Micheil
- Jones Myrna D.
- Jones Steven
- Jong Pieter De
- Jordan Yun
- Joseph Shirin
- Joy Ann
- Joy Linsey
- Joy Victoria
- Joyce Gillian
- Jubb Mark
- Jung Eugine
- Järke Doris
- Kadner Kristen
- Kagan Ryan
- Kahsai Orsalem
- Kaida Kaoru
- Kale Pat
- Kalicki-Veizer Joelle
- Kamal Michael
- Kamat Asha
- Kamholz Sandra
- Kana Arnold
- Kang Hui
- Kang Kelie
- Kang Ning
- Kapur Hitesh
- Karolchik Donna
- Karunaratne Kanchi
- Kasprzyk Arek
- Katayama Takujiro
- Kato Takako
- Kauer Gerhard
- Kaul Rajinder
- Kaur Amardeep
- Kawagoe Chiharu
- Kawasaki Kazuhiko
- Kay Michael
- Kaye Danielle
- Kearney Lyndal
- Keefe Damian
- Keen Gifford
- Keenan Stephen
- Kegelmeyer Laura
- Kegg Lisa
- Kelley Simon
- Kells Cristyn
- Kelly Shayna P.
- Kelly Susan H.
- Kershaw Joanna
- Kettleborough Ross
- Keys David
- Khan Arsi
- Khan Umer F.
- Khan Ziad Mohid
- Khine Susu
- Khurama Divya
- Kidd Cathy
- Kierstan Peter
- Kieu Alix
- Kim Jennifer
- Kim Joomyeong
- Kim Kyung
- Kimball Heather
- Kimberley Andrew
- Kimura Moe
- King Andrew
- King Laquisha Monique
- King Mary-Clare
- Kingsley Simon
- Kingswood Colin
- Kisamo Haika
- Kisner Peter
- Kitts Paul
- Kiyooka Miho
- Klages Sven
- Klingle Gillian
- Knights Andrew
- Kobayashi Mai
- Kodira Chinnappa
- Kohlberg Sara
- Kojima Kazuyasu
- Kolbe William
- Kong Yi
- Korf Ian
- Kosiura Anna
- Kou Zhaohui
- Kovar Christie L.
- Krawczyk Marie-Claude
- Kremitzki Colin
- Kremmidiotis Gabriel
- Krogh Anders
- Kronmiller Brent
- Kruchowski Scott S.
- Kube Michael
- Kubischta Duane
- Kudoh Jun
- Kuehl Jennifer
- Kuharic Patrick
- Kuhn Carol
- Kulish Larissa
- Kuroki Yoko
- Kwan Chinnie
- Kyle Amy
- LaButti Kurt
- Lacombe Anne
- Lad Heena
- Lafrades Melanie
- Lagemann Dorothee
- Lai Jianghua
- Lai Teresa
- Laidlaw Philip
- Laing Michael
- Laird Gavin
- Lam Edward
- Lam Marissa
- Lama Dawa
- Lamar Betty
- Lambart Christine
- Lamble Ralph
- Lamerdin Jane E.
- Lander Eric S.
- Landers Tom
- Langford Cordelia
- Lansang Christine
- Lao Victoria
- Lapidus Alla
- Larke Ben
- Lato Bernadette
- Latreille Phil
- Lau Timun
- Lawlor Stephanie
- Layman Dan
- Leal Belita
- Leather Sampsa
- Lebow Heather
- Lee Byung-in
- Lee Cherie Jenae
- Lee Denise
- Lee Hong-Mei
- Lee Joon ho
- Lee Kenneth
- Lee Lisa
- Lee Peter
- Legall Fitzherbert Henderson, III
- Leger Jean Pierre
- Lehman Karl
- Lehmann Rüdiger
- Lehoczky Jessica
- Lehrach Hans
- Lehvaslaiho Minna
- Lei Meng
- Lemke Johannes
- Lennon Gregory
- Leonard Shawn
- Leonard Steven
- Leongamornlert Daniel
- Lesar Kendra
- Levan Jaclyn M.
- Leversha Margaret
- Levine Rosie
- Levy Andrew
- Levy Michaël
- Lewis Doreen
- Lewis Ernest K.
- Lewis Keith
- Lewis Lakeshia C.
- Lewis Lora R.
- Lewis Tammy
- Leyba Tina
- Li Changfeng
- Li Chenji
- Li Eryao
- Li Feifei
- Li Gang
- Li Jane
- Li Jiayang
- Li Jiayang
- Li Jihong
- Li Jing
- Li Jingfei
- Li Jingxiang
- Li Li
- Li Lili
- Li Lin
- Li Ming
- Li Nan
- Li Ran
- Li Shengbin
- Li Shuangding
- Li Shuangli
- Li Shuping
- Li Shuxia
- Li Songgang
- Li Tao
- Li Wei
- Li Zaiping
- Li Zhangwan
- Lieuallen Kim
- Lightning Julia
- Lim Meng K.
- Lindblad-Toh Kerstin
- Lindo Ken
- Lindquist K.
- Lindsay Sarah
- Lindstrom Kirsten
- LIne Matthew
- Ling Wei
- Linkowski Albert
- Linsdell Sally
- Little Peter
- Liu Boyong
- Liu Boyong
- Liu Cong
- Liu Dianwu
- Liu Haili
- Liu Jing
- Liu Jing
- Liu Jing Mei
- Liu Jun
- Liu Kai
- Liu Ning
- Liu Qian
- Liu Siqi
- Liu Stephanie
- Liu Wei
- Liu Wen
- Liu Xiaohong
- Liu Xinshe
- Liu Yanhua
- Liu Yannan
- Liu Yih-Shin
- Liu Yilin
- Liu Ying
- Liu Yu
- Liu Yu
- Liu Zhanwei
- Liyanage Dhammika
- Llewellyn-Silva Crystal
- Lloyd Christine
- Lloyd David
- Lobb Rebecca
- Lock Victoria
- Lock William
- Lodziak Anne
- Lokyitsang Tashi
- Lokyitsang Yeshi
- London Darin
- London Pamela
- Longden Ian
- Longmire Johnathan L.
- Lopez Frederick
- Lopez John
- Lopez Jose
- Lopez Lora
- Loraine Howard
- Lord Rachel
- Lorensuhewa Lorna M.
- Lou Yunian
- Loulseged Hermela
- Loveland Jane
- Lovell Jamie
- Lovett Demetria A.
- Lowenstein Michael G.
- Lowry Stephen
- Lozado Ryan J.
- Lu Lingfeng
- Lu Tao
- Lu Xiuhua
- Lu Yongxiang
- Lu Yontao T.
- Lu Yue
- Lucas Robert
- Lucas Susan
- Lucier Alice
- Lucier Raymond L.
- Ludeman Thom
- Lui Annie
- Lundgren Lyndsey
- Luo Chunqing
- Luo Chunqing
- Lv Gang
- Lv Gang
- Lye Georgina
- Lynch Daniel
- Löhnert Tschong-Hun
- Ma Cheng
- Ma Gary
- Ma Jiao
- Ma Jie
- Ma Peter
- Ma Qingmei
- Ma Xiaohui
- Maas Jason
- Mabbitt Richard
- Macdonald Pendexter
- Machrus Migdad
- Macht Madison
- Macken Catherine A.
- MacLean Christine
- Madabhushi Ramki
- Madu Renita C.
- Maeda Hideto
- Maglott Donna
- Maheshwari Manjula
- Mahindartne Mathew
- Mahmoodi Venus
- Mahnke Ryan
- Mailey Brian
- Major John
- Malfatti Stephanie
- Malloy Kevin
- Maltbie Mary I.
- Mangum Brian
- Manning Jonathan
- Manohar Chitra
- Mapua Patricia
- Marabella Dick
- Mardis Elaine R.
- Mareth David
- Mariano Marisa
- Marinelli Lisa
- Mark Graham A.
- Marquis-Homeyer Catherine
- Marr Thomas G.
- Marra Marco
- Marriott Neil
- Marrone Anne
- Marroquin Christian
- Marsden Paul
- Marsh Victoria
- Martin Christopher
- Martin Joel
- Martin Kirt
- Martin Matthew
- Martin Sancha
- Martindale Ashley D.
- Martinez Diego
- Martinez Evangelina
- Martinez Michele
- Martinka Scott
- Maru Kebede
- Maruyama Kayo
- Maslen Gareth
- Mason Debbie
- Masood Hadi
- Massey Elizabeth
- Matsuda Fumihiko
- Matsumoto Shuko
- Matsushita Yoshitaka
- Matthews Charles D.
- Matthews Lucy
- Matthews Nick
- Matthews Paul
- Matthews Sterling D.
- Mauceli Evan
- Maunes Cynthia
- Maupin Rachel
- Mawhiney Samantha
- Maynard Madalynne
- McCann Owen
- McCarthy Megan
- McClay Joseph
- McCollum Craig
- McConnachie Louise
- McCormick Mary Kay
- McCready Paula
- McDonald Bill
- McDonald Louise
- McDowall Jennifer
- McGhee Tina
- McGuire Sarah
- McGurn Phil
- McKeown Carole
- McLaren Stuart
- McLay Kirsten
- McLean James
- McLellan Michael D.
- McLeod Michael P.
- McMurdo John
- McMurray Amanda
- McMurray Des
- McMurray Kimberly
- McMurray Kimberly L.
- McNinch Jenny
- McPherson John
- McPherson John D.
- McVicker Graham
- McWilliams Natalie
- Mead Kelly
- Meador Michael G.
- Medina Catherine
- Mehta Nalini
- Meidi Patrick
- Meier Elke
- Meincke Linda J.
- Mejima Mio
- Meldrim James
- Melsopp Craig
- Mendez Sylvia
- Meneus Louis
- Meng Shanshan
- Menuge Noel
- Mercado Christian
- Mercado George
- Mercado Iracema C.
- Mercer Simon
- Merritt Christina E.
- Mesirov Jill P.
- Metzker Michael Lee
- Meyer Rekha
- Meyer Rick
- Miah Asab
- Michaelis Evelyn
- Micklem Gos
- Mieczkowski Carl
- Mier Maggie
- Miguel Trini
- Mihalev Atanas
- Mihalkanin Danielle
- Mihova Tanya
- Miles Simon
- Mileur Mason W.
- Miller Christie
- Miller Donald
- Miller Nancy
- Milne Sarah
- Miner George R.
- Miner Sheri
- Miner Tracie
- Minja Emmanuel
- Minoshima Shinsei
- Minx Patrick J.
- Misra Monica
- Mistry Dippica
- Mistry Shailesh
- Mitchell Jake
- Mitchell Jeff
- Mitchell Teresa
- Mitina Sophia
- Mitsui Aki
- Mitsuyama Susumu
- Miyazawa Akemi
- Mlenga Val
- Mohabbat Farida
- Mohabbat Khatera
- Mohammadi Maryam
- Mohrenweiser Harvey
- Molina Christophe
- Monforte Joseph
- Montemayor Julie
- Montgomery Baize
- Montgomery Mishelle
- Mooney Paul
- Moore Madeline
- Moore Niki
- Moreland Andrea
- Morgan Jenna
- Morgan Margaret B.
- Morita Hiroko
- Morris Sidney
- Mortimore Beverly
- Morton Jerry
- Motoyama Ayuko
- Mott Richard
- Moyzis Robert K.
- Mu Feng
- Mukherjee Shibani
- Mullenger Ian
- Mullikin Jim
- Mulrain Leon
- Munday Brian
- Munday Elaine
- Mundt Mark O.
- Mungall Andy
- Munidasa Mala
- Munk A. Christine
- Munk Christie A.
- Munson Glen
- Murakami Katsuhiko
- Murayama Yuji
- Murnane Clare
- Murphy Matthew B.
- Murphy Michael
- Murray Christine
- Murray Debra Dianne
- Murray Jennifer
- Murrell Kerry
- Muzny Donna Marie
- Myers Alison
- Myers Richard
- Müller Ines
- Nagamine Kentaro
- Nagao Syunsuke
- Nagaraja R.
- Nair Latha
- Nair Seema R.
- Naka Maho
- Nakagawa Masayo
- Nakagawa Saori
- Nakamura Etsuko
- Nakato Eriko
- Nanavati Amit N.
- Nandkeshwar Richard
- Nankervis Colin E.
- Naranjo Cleo M.
- Nash William
- Naylor Jerome
- Nazareth Lynne V.
- Neal Dearl D.
- Negus David
- Nelson Catherine
- Nelson David O.
- Nelson Deborah A.
- Nelson Joanne
- Nelson Kathryn
- Nelson Ward
- Nesbitt Ryan
- Neunkirch Jennifer
- Newes Christian
- Newman April
- Ng Bee
- Ng Terrance
- Ngo Robin Ngoc
- Nguyen Bao-Viet
- Nguyen Christine
- Nguyen Cindy
- Nguyen Hoa
- Nguyen Le-Thu Dinh
- Nguyen Lisa
- Nguyen Minh
- Nguyen Na
- Nguyen Natalie M.
- Nguyen Ngoc Bich
- Nguyen Thu
- Nhan Mike
- Ni Lin
- Niblett David
- Nicholson Jonathan
- Nickerson Elizabeth
- Nickerson Tim
- Nicol Robert
- Nijjar Sukhjit
- Ning Zemin
- Nisbet James
- Nishida Aki
- Niu Yuxin
- Niu Yuxin
- Nivens Amber
- Noguchi Hideki
- Nolan Matt
- Norbu Chou Dolma
- Norbu Nyima
- Nordsiek Gabriele
- Norris Sarah Louise
- Novik Karen
- Nowlin Larry
- Nusbaum Chad
- Nwaokelemeh Ogechi O.
- Nwokenkwo Stanley
- O\u27Donnell Paula
- O\u27Donovan Daniel
- O\u27Leary Sinead
- O\u27Loughlin Jennifer
- O\u27Neill Keith
- Obayashi Izumi
- Obregon Melissa
- Oddone Paola
- Oddone Pierre
- Oddy Lachlan
- Odell Christopher
- Ogawara Etsuko
- Ogbighele Francess
- Oguh Maryann
- Ohmori Kyoko
- Ohno Saho
- Ohta Nao
- Ohtsubo Masafumi
- Oinn Tom
- Okoawo Ose
- Okui Michiyo
- Okumura Reina
- Okwuonu Geoffrey O.
- Okwuonu Kenneth C.
- Olarnpunsagoon Alisa
- Olivas Jason
- Oliver Hayley
- Oliver Karen
- Olsen Anne S.
- Olson Maynard V.
- Omotosho Bamidele
- Onoda Junko
- Oomori Nobuhiro
- Ooshima Kenshiro
- Oragunye Njideka
- Orantes Jerry
- Orbell Helena
- Osada Misuzu
- Osborn Anthony
- Osborne Joan
- Osman Sahal
- Ovcharenko Ivan
- Overton-Larty Emma
- Oviedo Rodolfo J.
- Ow David
- Ozawa Ritsuko
- Ozersky Philip
- Pace Araceli C.
- Pack Elizabeth
- Padki Anuradha
- Pahlavan Shane
- Palaniappan Krishnaveni
- Palazzolo Michael
- Palmeiri Anthony
- Palmer Sophie
- Pan Jiaofeng
- Pan Sisu
- Panasenko Vladimir
- Pandian Richard
- Parker Adrian
- Parker David Neil
- Parker Stephen
- Parkin Christopher
- Parkin Kim
- Parks Kenya L.
- Parry-Brown Ginny
- Parson-Quintana Beverly
- Pasternak Shiran
- Patel Bella Mayurkumar
- Patel Dina
- Patel Jalpa N.
- Patel Ritesh
- Patel Shripa
- Patel Vishal V.
- Patrick James
- Paul Heidie A.
- Paul Shelia
- Paulson Edward
- Payton Brett A.
- Pearce Alexandra
- Pearman Charlene
- Pearson Danita
- Pecherer Robert M.
- Peck Anna
- Peck Richard
- Pedan John
- Pelan Sarah
- Pelletier Eric
- Peng Vivian
- Peng Vivian
- Peng Yi
- Peng Yi
- Peng Ze
- Peng Ze
- Pennacchio Len A.
- Pennacchio Len A.
- Percy Chantel
- Perez Agapito
- Perez Lesette M.
- Perito Andrew
- Perrault Isabelle
- Perrier Rene
- Perrier Rene
- Perrin William
- Pesavento Brad
- Peters Anna
- Peters Leonard G.
- Peterson Jane
- Peterson Karl
- Petit Jean-Louis
- Pettett Roger
- Petz Uta
- Pfeiffer Joyce
- Phan Hoan
- Phelps Karen
- Phillimore Ben
- Phillips Kim
- Phillips Samantha
- Phulchung Tenzin
- Phunkang Pema
- Pickens Adam
- Pieper Natasha
- Pierre Nadia
- Piqani Bruno
- Piscia C.
- Pitesky Maurice
- Pitluck Sam
- Plajzer-Frick Ingrid
- Platt Darren
- Platzer Matthias
- Playford Emma
- Plopper Farah Jo Homsi
- Plumb Bob
- Pocock Matthew
- Pohl Craig
- Poindexter Alan
- Poliakov Alex
- Pollard Martin
- Polman Jos
- Ponting Chris P.
- Porter Aaron
- Porter Keith
- Porter Tarryn
- Posada Martha
- Potter Christopher
- Potter Simon
- Poundstone Pat
- Pourrajabi Nima M.
- Powell Don
- Powell Jason
- Prado Daisy
- Prange Christa
- Prathalingham Radhika
- Predki Paul
- Prigmore Elena
- Primus Eltrick L.
- Primus Jennifer
- Probst Lyle
- Procter Glenn
- Pruitt Kim
- Pu Ling-Ling
- Puazo Maria
- Putnam Nicholas
- Qasem Osama
- Qi Qiuhui
- Qi Xiaohua
- Qi Xiaohua
- Qian Xufang
- Qian Zengmin
- Qiang Boqin
- Qiang Boqin
- Qiao Zhenyong
- Qin Xiang
- Quail Michael
- Quan Glenda
- Quarrie Hannah
- Quiles Miyo M.
- Quince Chris
- Quiroz Juana B.
- Qureshi Matloob
- Rabata Dina
- Rachlin Eric K.
- Rachupka Anthony
- Radionenko Maxim
- Rajagopal Mohan
- Ramasami Umadevi
- Rameau Rayale
- Ramirez Lucia
- Ramirez Melissa
- Ramos Nicole
- Ramsay Helen
- Ramsey Yvonne
- Ranby Sally
- Rance Richard
- Rand Vikki
- Randall-Maher Jennifer
- Randolph David
- Randolph James
- Rapier Irma
- Rappaport Barry
- Rash Sam
- Ratford Joanne
- Ratford Lewis
- Ratliff Robert I.
- Ray Aditya
- Ray Vernada
- Raymond Chris
- Raymond Christina
- Read Daniel
- Redhead Donald
- Redon Richard
- Rees Christine
- Reeves Kacy
- Regala Warren
- Reichwald Kathrin
- Reid Mary
- Reigh Richard A.
- Reily Amy D.
- Reinhardt Astrid
- Reinhardt Richard
- Reiter Charlie
- Ren Shuangxi
- Ren Shuangxi
- Ren Yanru
- Retterer James
- Rice Alex
- Rice Catherine
- Rice Peter
- Rice Stephen
- Richard Suzzanne
- Richards Stephen
- Richardson Kristi
- Richardson Paul
- Richardson Paul
- Richardson Susan
- Ricke Darryl O.
- Ridler Kerry
- Riethman Harold
- Riethoven Lyn
- Rigby Rachel
- Riley B.E
- Rise Cecil
- Rivera Angel
- Rives Catharine M.
- Road JungShing
- Robert Catherine
- Roberts Simon
- Robinson Chris
- Robinson Dezere
- Robinson Donna I.
- Robinson Donna L.
- Robinson Melanie
- Rochford Rebecca
- Rock Susan M.
- Rodkey Travis L.
- Rodriguez Alex
- Rodriguez Joseph
- Rodriguez Juan
- Rogers Jane
- Rogers Lisa
- Rogers Stephanine
- Rogosin Andrea
- Rogov Peter
- Rohlfing Theresa
- Rojas Alberto
- Rokhsar Daniel
- Rong Li
- Rong Li
- Rosenbloom Kate R.
- Roskin Krishna M.
- Ross Hugh
- Ross Mark
- Ross Stephanie
- Rowen Lee
- Rubenfield Marc
- Rubin Edward M.
- Ruef Barbara
- Ruiz Erica M.
- Ruiz San Juana
- Rule Angela
- Rule James
- Rule Jeffrey
- Russell Ben
- Russell Jayne
- Ryan Andrea
- Sabo Aniko
- Saenphimmachak Channakhone
- Safdar Kamal
- Sakai Ryoko
- Sakaki Yoshiyuki
- Sakaldasis George
- Salamov Azaf
- Salazar Angelica
- Salter Natalie
- Samain Sylvie
- Sana Moazzam Mohammad
- Sanders Brent
- Sanders Christina
- Sanders Wendi
- Santibanez Jireh
- Santoyo-Lopez Javier
- Sanuki Naoko
- Sarmiento R.
- Sasaki Takashi
- Satpathy Suraj
- Saunders David
- Saunders Elizabeth H.
- Saurin William
- Savery Glenford G.
- Sawada Nori
- Sawhill William W.
- Saxman Eric
- Scarpelli Claude
- Scharfe Maren
- Schatzkamer Kyriena L.
- Scherer Steven Edward
- Schilhabel Markus
- Schlessinger David
- Schmeits James
- Schmidt Esther
- Schmoger Siliva
- Schmutz Jeremy
- Schnabl Matthew
- Schuler Gregory
- Schupbach Rebecca
- Schuster Michael
- Schön Oliver
- Scott Carol
- Scott Damian
- Scott Deborah
- Scott Duncan
- Scott Graham
- Scott Ian
- Scott Kelsi
- Scott Paul
- Seager Fiona
- Seaman Christopher
- Seaman Steven
- Searle Margaret
- Searle Paul
- Searle Stephen
- Sehra Harminder
- Seitz Kathleen
- Sekhon Mundeep
- Severin Jessica
- Seymour Burt
- Shah Neha
- Shakespeare Joe
- Shams Saima
- Shao Chunyan
- Shao Yufen
- Shapiro Harris
- Shardelow Jason
- Sharp Greg
- Sharpe Ted
- Shaw Teresa
- Shaw-Smith Charles
- She Xinwei
- Shearing Jennifer
- Shen Fengye
- Shen Hua
- Shen Meishan
- Shen Yan
- Shen Yan
- Shen Yan
- Sheng Haihui
- Sheppard Karen
- Sheridan Andrew
- Sheridan Elizabeth
- Sherpa Ngawang
- Shi Guibin
- Shi Hongfang
- Shibuya Kazunori
- Shiino Noriko
- Shimizu Atsushi
- Shimizu Hidetsugu
- Shimizu Nobuyoshi
- Shimizu Yoshiko
- Shin Maria
- Shindoh Nobuaki
- Shintani Ai
- Shiohama Aiko
- Shoji Minami
- Shotland Yoram
- Shought Timothy
- Shownkeen Ratna
- Shreve Jeff
- Siddiqui Roman
- Siepel Adam C.
- Silk Richard
- Silk Richard
- Sims Matthew
- Sims Matthew
- Sims Sarah
- Sims Sarah
- Sindelar Linda
- Sinha Prashant
- Sisson Ida
- Sivadasan Shanthi
- Sivadasan Shanthi
- Skowronski Evan
- Skuce Carl
- Skuce Carl
- Slater Nathaniel
- Slezak Tom
- Smedley Damian
- Smink Luc
- Smink Luc
- Smith Andrew
- Smith Andrew
- Smith Cherylyn
- Smith Doug
- Smith Douglas R.
- Smith James
- Smith James
- Smith Joel
- Smith Karen
- Smith Laura
- Smith Laura
- Smith Lorraine
- Smith Lorraine
- Smith Michael
- Smith Michelle
- Smith Michelle
- Smith Russell
- Smith Russell
- Smith Stephanie
- Smith Stephanie
- Smith Troy
- Sneath Hannah
- Sneath Hannah
- Sodergren Erica
- Soderlund Cari
- Soderlund Cari
- Soderlund Cari
- Solovyev Victor
- Solovyez Victor
- Sonaike Titilola
- Song Liping
- Song Liping
- Song Shuping
- Song Xing-Zhi
- Sonnhammer Erik
- Sonnhammer Erik
- Sorelle Richard P.
- Sotheran Elizabeth
- Sougnez Carrie
- Spainhower Corey
- Sparks Anastasia L.
- Spencer Brian
- Spieth John
- Spooner William
- Spraggon Lee
- Sqaures Suzanna
- Squares Janet
- Stabenau Arne
- Stables Michael
- Stalker James
- Stalker John
- Stallings Raymond I.
- Stalvey Malinda
- Stamford Steve
- Stammers Melanie
- Standring Lisa
- Stange-Thomann Nicole
- Stavropoulos Sharon
- Steffen David
- Stege Justin T.
- Steingruber Helen
- Stephens Yvonne
- Stephens-Bolds Shaela
- Stetson Kevin
- Stevko Victor
- Steward Charles
- Stewart Aengus
- Stewart Michael
- Still Ian
- Stock Mo
- Stone Casey
- Stone Evan
- Stone Sabrina
- Stoppard Lisa
- Storey Philip
- Storey Roy
- Stowe Sarah
- Strachan Carol
- Strachan Greg
- Strasser Jonathan
- Stribling Claire
- Strong Cynthia
- Stubbs Lisa
- Stubbs Matthew
- Stultz Janet
- Sturdy John
- Su Xiaohu
- Subramanian Sandhya
- Subramanian Sandhya
- Sudbrak Ralf
- Sugnet Charles W.
- Sulston John
- Summers Leslie J.
- Sun Hui
- Sun Jiajia
- Sun Jiandong
- Sun Jiu Qin
- Sun Min
- Sun Tao
- Sun Wei
- Sun Yongqiao
- Sun Yu
- Sun Yue
- Sutherland Grant R.
- Sutherland Robert D.
- Sutton Angelica E.
- Svatek Amanda F.
- Svetz Jessica
- Svetz Leah Anne
- Swainson Chris
- Swann Mark
- Swarbreck David
- Swearengen-Shahid Sharhonda
- Sycamore Neil
- Ségurens Béatrice
- Tabor Paul E.
- Tacey Kristina
- Tagett Beckie
- Tagney Matthew
- Tahara Takashi
- Takahashi Keiko
- Takano Nobuhiro
- Takaoka Tori
- Takayanagi Atsushi
- Takenaka Tracy
- Talamas Jessica
- Tam Serena
- Tamerisa Kavitha S.
- Tamirisa Aparna
- Tan Olivia
- Tan Steven
- Tan Xinyu
- Tan Xinyu
- Tang Hongli
- Tang Xiangjun
- Tansey Jennifer
- Tao Ran
- Tapia Roxanne
- Taring Elizabeth
- Tatsuyama Miho
- Tatum Owatha I.
- Taudien Stefan
- Taylor Amy
- Taylor Christina C.
- Taylor Gillian
- Taylor Kate
- Taylor Ruth
- Taylor Sam
- Taylor Susan
- Taylor Tineace R.
- Taylor Todd Duane
- Tchuinga Pierre
- Tee Louise
- Telford Ethan Brett
- Tenzin Pema
- Terada Yoriko
- Terry Astrid
- Tesfaye Senait
- Tesmer Judith G.
- Tester Julieanne
- Thayer Nina
- Theaker Andrew
- Theil James
- Theodore Joumathe
- Thexton David
- Thies Stephanie
- Thomas Craig
- Thomas Daniel
- Thomas Daryl J.
- Thomas Karen
- Thomas Nicole
- Thomas Paulette
- Thomas Ruth
- Thomas Shereen
- Thommai Roselin
- Thompson Linda S.
- Thorne Rachel Diane
- Thorpe Andrea
- Thorpe Karen
- Thoulutsang Yama
- Threadgold Glen
- Thurston Scott
- Tian Chaoguang
- Tian Chaoguang
- Tian Wei
- Tian Yan
- Tian Yong
- Tian Yuqing
- Tice Hope
- Tighe Damon
- Tin-Wollam Aye M.
- Tinsley Emma
- Tochigi Miwako
- Togashi Naoko
- Tomizawa Iori
- Tomlinson Chad
- Tong Jingli
- Topham Kerri
- Torcaso Bill
- Torney David C.
- Totoki Yasushi
- Towey Sarah
- Toyoda Atsushi
- Tracey Alan
- Tran Ly Thanh
- Tran-Gyamfi Mary
- Trani Lee
- Trankiem Margie
- Trask Barbara J.
- Travers Johnathan
- Trejos Zulma Y.
- Treuhaft Marianne
- Trevino Brenda Kaye
- Tromans Anthony
- Trong Stephan
- Trumbower Heather
- Tsai Ming
- Tsamla Tsamla
- Tsolas Jason
- Tsomo Nawang
- Tsujimoto Susan
- Tsukamoto Yumi
- Tsuruoka Hiromi
- Tsuzuki Rina
- Tu Yuefeng
- Tu Yuefeng
- Tubby Ben
- Tufarelli Cristina
- Turner Heidi
- Turney Kathryn
- Tynan Katherine
- Ueland Stephanie
- Ueng Samantha
- Ukegbu Ogechi Nkemdirim
- Ulanovsky Levy E.
- Un Chun
- Ung Quyen
- Upson Darren
- Urban Jeremy B.
- Ureta-Vidal Abel
- Ureta-Vidal Abel
- Usmani Kamran
- Ustaszewska Anna
- Uyama Nozomi
- Valas Ruben E.
- Valdez Michelle
- Valle Duane
- Valles Yvonne
- Van Brunt Andrew
- Van Dilla Marvin
- Van Helmond Zoe
- Van Luchene Ryan
- Vardanian Zachary
- Vargas Michelle
- Vargo Charles E.
- Vartanian Steffan
- Vasquez Lydia I.
- Vassiliev Helen
- Vastrik Imre
- Vaudin Mark
- Veil Rose
- Veklerov Eugene
- Velasco Nelson
- Velasquez Lisa
- Venkataranan Vijay
- Vera Virginia A.
- Verduzco Daniel
- Vergez Lisa
- Vico Virginie
- Viknaraja Ramya
- Villasana Donna M.
- Vine Wendy
- Viswanathan Vijay
- Vo Andy
- Vo Nu
- Voak Paul
- Vollenhoven David
- Wada Hiromi
- Wagner Mark
- Wagner-McPherson Caryn
- Waldron Lenee
- Waligorski Jason E.
- Walker Davian L.
- Walker Keya
- Walker Sarah
- Wall Melanie
- Wall Randy E.
- Wallace John
- Wallis Justine
- Wallis Michelle
- Walsh Jennifer
- Walsham Natalie
- Wan Ma
- Wang Chunyan
- Wang Dong
- Wang Feng
- Wang Guangxin
- Wang Guihai
- Wang Guihai
- Wang Hongjuan
- Wang Hongwei
- Wang Huanjie
- Wang Huifeng
- Wang Huifeng
- Wang Jian
- Wang Jian
- Wang Jian
- Wang Jie
- Wang Jing
- Wang Jingqiang
- Wang Jingqiang
- Wang Jinhua
- Wang Joann
- Wang Juan
- Wang Jun
- Wang Jun
- Wang Jun
- Wang Li
- Wang Lijie
- Wang Lijuan
- Wang Lijun
- Wang Ling
- Wang Liqun
- Wang Mei
- Wang Qiaoyan
- Wang Shifen
- Wang Shu
- Wang Suzhen
- Wang Wenjun
- Wang Xiaoling
- Wang Xiaoning
- Wang Xuefei
- Wang Xuegang
- Wang Yan
- Wang Yimin
- Wang Ying
- Wang Ying
- Wang Yuanyuan
- Wangchuck Tsering
- Wangdi Tsering
- Ward-Moore Stephanie
- Warren Graham
- Warren James T.
- Warry Georgina
- Watanabe Hidemi
- Watanabe Saki
- Waterston Robert H.
- Watson Andy
- Watt Nicola
- Webb Anthony
- Webb Jeannette
- Webber Caleb
- Weber Ryan J.
- Wehri Edward
- Wei Shulin
- Wei Xuehong
- Weidenbach Richard
- Weinstock George
- Weinstock Keith
- Weir John
- Weissenbach Jean
- Wells Alan
- Wells Sarah
- Welton Robert
- Wen Gaiping
- Wendi Mike
- Weng Li
- Wenning Sarah
- Wentz Sara
- Werler Daniela
- Wesley Mary Melissa
- West Paul
- West Tony
- Wetterstrand Kris
- Wheatley Angela
- Wheatley Carl
- Wheeler David A.
- Wheeler Gideon
- Wheeler Jeremy
- Whitaker Hayley
- White Adam
- White Amelia
- White Brian
- White Catherine
- White Flower
- White Jennifer
- White Johnathon
- White P. Scott
- White Scott P.
- White Simon
- Whitehead Sally
- Whiteley Matthew
- Whitmore Scott
- Whittaker Adam
- Whittaker Charles
- Whittaker Pamela
- Wickremasinghe Manosha I.
- Widaa Sara
- Wiegel Sarah
- Wild Anna
- Wilkinson Jane
- Wilkinson Jane
- Wilkinson Paul
- Willey David
- Williams Albert L.
- Williams Andy
- Williams Bill
- Williams Gabrielle A.
- Williams Leanne
- Williamson Angela L.
- Williamson Helen
- Wills Patricia L.
- Wills Richard
- Wilmer Tamsin
- Wilming Laurens
- Wilson Brian
- Wilson Gareth
- Wilson Margaret
- Wilson Nyree
- Wilson Piers
- Wilson Richard K.
- Wilson Siobhan
- Wilson Steve
- Wilson Wendy
- Wincker Patrick
- Window Philip
- Winster Jenny
- Winzar Claire
- Witt James
- Wleczyk Regina
- Wobus Fred
- Woessner Jeffrey
- Wohldmann Patty
- Wollard Jessica
- Womack Andrew W.
- Wong Benjamin
- Wong Gane K-S
- Wood Diane
- Wood Emma
- Wood Joe
- Wooden Hailey S.
- Wooden Steven H.
- Woodeson Sharon
- Woodfine Kathryn
- Woodmansey Rebecca
- Woods Eric
- Woodwark Cara
- Wooster Richard
- Worley Kim Carlyle
- Woyke Tanja
- Wray Matthew
- Wray Paul
- Wright Charmain
- Wright Debbie
- Wright Kathrine
- Wright Kristin
- Wright Rita A.
- Wu Chungen
- Wu Dongying
- Wu Jiaqian
- Wu Jung-Rung
- Wu Kevin
- Wu Qingfa
- Wu Qingfa
- Wu Ruiming
- Wu Xiao
- Wu Xiaojing
- Wu Zaining
- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
- Wyman Dudley
- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
- Xie Gary
- Xie Jane
- Xiong Hui
- Xiong Yuqing
- Xu Alex
- Xu Jing
- Xu Jing
- Xu Ruqin
- Xu Shuhua
- Xu Wei
- Xu Xinlai
- Xu Yan
- Xu Yuning
- Xu Zhihong
- Xu Zuyuan
- Xuan Yali
- Xuan Zhenyu
- Xue Rui
- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
- Yamamoto Lynn
- Yamamoto Noriko
- Yamamoto Yuko
- Yamashita Yasue
- Yamazaki Satoru
- Yang Hao
- Yang Huanming
- Yang Huanming
- Yang Joan
- Yang Shiaw-Pyng
- Yang Shudong
- Yang Xiaonan
- Yang Xiaonan
- Yang Xiaoping
- Yang Yongkui
- Yano Candance
- Yao Zhijian
- Yao Zhijian
- Yaspo Marie-Laure
- Ye Chen
- Yeager Shane
- Yeh Mimi
- Yen Jennifer
- Yeshitela Rahel Retta
- Yoakum Martin
- Yokobata Kathy
- Yokoyama Jennifer
- Yonezawa Miho
- Yoon Lillienne
- Yoon Vivienne
- Yoshida Satoru
- You Bo
- Young Geneva
- Young Louise
- Young Shelia
- Younger Ruth
- Yu Bing
- Yu Charles
- Yu Fuli
- Yu Jun
- Yu Jun
- Yu Jun
- Yuan Kaiwen
- Yuan Ye
- Yuan Yida
- Yue Shujie
- Yumae Brian
- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
New genetic loci link adipose and insulin biology to body fat distribution.
- Author
- Aalto Ville
- Aasarød Knut
- Abecasis Goncalo R
- Abecasis Gonçalo
- Absher Devin
- Adair Linda S
- Adam Martin
- Adeyemo Adebowale
- Ahlqvist Emma
- Ahmadi Kourosh R
- Ahola Aila
- Ainali Chrysanthi
- Akylbekova Ermeg
- Ala-Korpela Mika
- Alavere Helen
- Albagha Omar M E
- Albrecht Eva
- Alen Markku
- Alexander Myriam
- Alhenc-Gelas François
- Alizadeh Behrooz Z
- Allison Matthew A
- Alonso Nerea
- Altshuler David
- Ambite Jose Luis
- Amin Najaf
- Amouyel Philippe
- An Ping
- Anderson Carl A
- Anderson Denise
- Anderson Garnet
- Andrews Jeanette S
- Antonella Mulas
- Antti Jula
- Aragaki Aaron K
- Arking Dan E
- Arnold Alice
- Arnold Alice M
- Arora Pankaj
- Arscott Gillian M
- Artigas Maria Soler
- Arveiler Dominique
- Asiki Gershim
- Aspelund Thor
- Assimes Themistocles L
- Atalay Mustafa
- Atkinson Elizabeth J
- Aulchenko Yurii
- Avery Christy
- Bain Stephen C
- Bakker Stephan J L
- Balcells Susana
- Balkau Beverley
- Ballantyne Christie M
- Balmforth Anthony J
- Bandinelli Stefania
- Barbalic Maja
- Barrett Amy
- Barroso Ines
- Barroso Inês
- Basart Hanneke
- Basart Hanneke V
- Bataille Veronique
- Baumert Jens
- Beckmann Jacques S
- Beekman Marian
- Been Latonya F
- Beilby John
- Beilby John P
- Bell Jordana T
- Bellis Claire
- Bennett Amanda J
- Bennett Franklyn
- Berenson Gerald S
- Bergman Richard N
- Bergmann Sven
- Berndt Sonja I
- Berne Christian
- Bidulescu Aurelian
- Bielak Lawrence F
- Bierut Laura J
- Biffar Reiner
- Bis Joshua C
- Blackburn Hannah
- Blangero John
- Blankenberg Stefan S
- Blüher Matthias
- Boban Mladen
- Bochud Murielle
- Boehm Bernhard O
- Boehnke Michael
- Boerwinkle Eric
- Boezen H Marike
- Bolton Jennifer L
- Bolton Judith A Hoffman
- Bonnet Fabrice
- Bonnycastle Lori L
- Boomsma Dorret I
- Borecki Ingrid
- Boright Andrew P
- Borja Judith B
- Bornstein Stefan R
- Boston Jonathan
- Bots Michiel L
- Bouatia-Naji Nabila
- Bouchard Claude
- Bovet Pascal
- Boyd Heather A
- Bragg-Gresham Jennifer L
- Brambilla Paolo
- Brand Eva
- Brand Stefan-Martin
- Brandi Maria Luisa
- Braund Peter S
- Brennan Eoin P
- Brismar Kerstin
- Brody Jennifer
- Broekmans Frank J
- Broer Linda
- Brown Matthew A
- Brown Morris J
- Brown-Gentry Kristin
- Bruinenberg Marcel
- Buchkovich Martin L
- Buckley Brendan M
- Buil Alfonso
- Bull Shelley B
- Burgdorf Christof
- Buring Julie E
- Burnett Mary S
- Burnier Michel
- Burri Andrea
- Burton Paul R
- Bush William S
- Busonero Fabio
- Buxbaum Sarah G
- Buyske Steve
- Buzkova Petra
- Byrne Enda M
- Böger Carsten A
- Böhringer Stefan
- Böttcher Yvonne
- Cambien Francois
- Campbell Harry
- Campbell Susan
- Carba Delia B
- Carlson Chris
- Carlson Olga D
- Carty Cara
- Casas Juan P
- Caspersen Ida H
- Castano-Betancourt Martha
- Cauchi Stéphane
- Cauley Jane A
- Caulfield Mark
- Cavalieri Margherita
- Cazier Jean-Baptiste
- Center Jacqueline R
- Cesana Giancarlo
- Chakravarti Aravinda
- Chambers John
- Chandak Giriraj R
- Chang Hsing-Yi
- Chang Yen-Pei C
- Chanock Stephen J
- Charchar Fadi J
- Chasman Dan
- Chaturvedi Nish
- Chen Constance
- Chen Han
- Chen Ida
- Chen Jin
- Chen Ming-Huei
- Chen Wei
- Chen Yii-Der Ida
- Cheng Iona
- Cheng Sulin
- Chines Peter S
- Cho Yoon Shin
- Choi Murim
- Chouraki Vincent
- Christiansen Claus
- Chu Audrey Y
- Cimponeriu Dan
- Ciullo Marina
- Clark Graeme R
- Clarke Robert
- Claudi-Boehm Simone
- Coassin Stefan
- Cochran Barbara
- Cole Shelley
- Colhoun Helen
- Colhoun Helen M
- Collins Francis S
- Collins Rory
- Connell John M
- Cooper Cyrus
- Cooper Jackie A
- Cooper Matthew N
- Cooper Richard S
- Coresh Josef
- Cornelis Marilyn C
- Corre Tanguy
- Corsi Anna Maria
- Couper David
- Cousminer Diana L
- Coviello Andrea D
- Cox David
- Crawford Dana
- Crisponi Laura
- Croteau-Chonka Damien C
- Cucca Francesco
- Cummings Steven R
- Cupples Adrienne L
- Cupples L Adrienne
- Curhan Gary
- d'Adamo Pio
- Dahgam Santosh
- Dailiana Zoe
- Danesh John
- Danoy Patrick
- Dastani Zari
- Davies Gail
- Daw E Warwick
- Day Felix R
- Day Ian N M
- de Andrade Mariza
- de Boer Ian H
- de Boer Rudolf A
- de Faire Ulf
- de Geus Eco J C
- Deary Ian J
- Dedoussis George
- Dedoussis George V
- Dedoussis George V Z
- Deelen Joris
- Deelman Ewa
- Dehghan Abbas
- Delgado Graciela
- Deloukas Panagiotis
- Deloukas Panos
- Demerath Ellen W
- Demirkan Ayse
- Demirkan Ayşe
- Den Hertog Heleen M
- Denniff Matthew
- Dennison Elaine M
- Dermitzakis Emmanouil T
- Deshmukh Harshal
- Deshmukh Harshal A
- Devuyst Olivier
- di Meglio Paola
- Diemert Patrick
- Dimas Antigone S
- Dimitriou Maria
- Ding Jingzhong
- Do Ron
- Dominiczak Anna F
- Doney Alex
- Dong Yanbin
- Donnelly Louise A
- Doumatey Ayo
- Dreisbach Albert W
- Drong Alexander W
- Duggan David
- Dumitrescu Logan
- Duncan Bruce B
- Duncan Emma L
- Dupuis Josee
- Dupuis Josée
- Durbin Richard
- Durda Peter
- Döring Angela
- Dörr Marcus
- Eastell Richard
- Easton Douglas F
- Ebrahim Shah
- Econs Michael J
- Edkins Sarah
- Egan Josephine
- Ehret Georg
- Eiriksdottir Gudny
- Eisman John A
- Eklund Niina
- El Mokhtari NourEddine
- Elks Cathy E
- Ellinghaus David
- Elliott Paul
- Elosua Roberto
- Emilsson Valur
- Endlich Karlhans
- Epstein Stephen E
- Erbel Raimund
- Erdmann Jeanette
- Erdos Michael R
- Eriksson Joel
- Eriksson Johan
- Eriksson Niclas
- Eriksson Per
- Ernst Florian
- Esko Tonu
- Esko Tõnu
- Esko Tönu
- Estrada Karol
- Eury Elodie
- Evangelou Evangelos
- Evans Alun
- Evans David M
- Eyheramendy Susana
- Eyjolfsson Gudmundur Ingi
- Fagerholm Emma
- Falhammar Henrik
- Fall Tove
- Farrall Martin
- Fauser Bart C J M
- Fava Cristiano
- Feenstra Bjarke
- Fehrmann Rudolf
- Feitosa Mary
- Feranil Alan B
- Ferrannini Ele
- Ferrario Marco M
- Ferreira Teresa
- Ferreli Liana
- Ferrières Jean
- Ferrucci Luigi
- Fischer Krista
- Florez Jose C
- Folkersen Lasse
- Folsom Aaron R
- Fontanillas Pierre
- Ford Ian
- Fornage Myriam
- Foroud Tatiana
- Forouhi Nita G
- Forrester Terrence
- Forsblom Carol
- Foster Meredith C
- Fowke Jay
- Fowkes F Gerald R
- Fowkes Gerard R
- Fox Caroline S
- Fox Ervin R
- Franceschini Nora
- Franco Oscar H
- Franco-Cereceda Anders
- Franke Andre
- Franke Lude
- Franks Paul W
- Frants Rune
- Fraser Ross M
- Frayling Timothy M
- Freedman Barry I
- Freimer Nelson B
- Freitag Daniel F
- Friedrich Nele
- Froguel Philippe
- Frost Morten
- Fuchsberger Christian
- Galan Pilar
- Ganesh Santhi K
- Ganna Andrea
- Gansevoort Ron T
- Gao Xiaoyi
- Garcia Melissa
- Garcia-Giralt Natàlia
- Garnaas Maija
- Gasparini Paolo
- Gauguier Dominique
- Gaunt Tom R
- Gautvik Kaare M
- Geller Frank
- Gharavi Ali G
- Giedraitis Vilmantas
- Gieger Christian
- Gierman Hinco J
- Gigante Bruna
- Gill Geoffrey V
- Giroux Sylvie
- Giulianini Franco
- Glass Daniel
- Glazer Nicole
- Glazer Nicole L
- Glenn Kim
- Glorioso Nicola
- Go Alan S
- Go Min Jin
- Godson Catherine
- Goel Anuj
- Goessling Wolfram
- Golay Alain
- Goldstein Benjamin A
- Goltzman David
- Gong Jian
- González-Macías Jesús
- Goodall Alison H
- Goodarzi Mark O
- Goodloe Robert
- Gordin Daniel
- Gordon Scott D
- Gorski Mathias
- Grabe Hans-Jörgen
- Graff Misa
- Grallert Harald
- Grammer Tanja B
- Gravito Martha L
- Greenwood Celia M T
- Grewal Jagvir
- Grimsby Jonna
- Grobbee Diederick E
- Groop Leif
- Groop Per-Henrik
- Gross Myron
- Groves Christopher J
- Grundberg Elin
- Grässler Jürgen
- Gräßler Jürgen
- Gu Harvest F
- Gu Tianwei
- Guarrera Simonetta
- Gudbjartsson Daniel F
- Gudnason Villi
- Gudnason Vilmundur
- Guiducci Candace
- Guo Qun
- Guo Xiuqing
- Gurdasani Deepti
- Gustafsson Stefan
- Gyllensten Ulf
- Gyllensten Ulf B
- Hadjadj Samy
- Hadley David
- Haessler Jeff
- Hager Jörg
- Haiman Christopher
- Haines Jonathan
- Hall Alistair S
- Hall Per
- Hallan Stein
- Haller Toomas
- Hallmans Goran
- Hallmans Göran
- Hamsten Anders
- Han Bok-Ghee
- Hankinson Susan E
- Hanson Robert L
- Hardy Rebecca
- Haritunians Talin
- Harjutsalo Valma
- Harris Tamara
- Hartikainen Anna-Liisa
- Hartman Catharina A
- Hass Merli
- Hassanali Neelam
- Hassinen Maija
- Hastie Nicholas D
- Hastie Nick
- Hattersley Andrew T
- Haun Margot
- Havulinna Aki S
- Hayward Caroline
- Hazen Stanley L
- He Bing
- He Chunyan
- Heard-Costa Nancy L
- Heath Andrew C
- Heath Simon
- Heckbert Susan R
- Hedblad Bo
- Hedman Åsa K
- Heid Iris M
- Heikkilä Kauko
- Heikkilä Outi
- Heiss Gerardo
- Heliövaara Markku
- Helmer Catherine
- Helmer Quinta
- Henders Anjali K
- Henderson Brian
- Hengstenberg Christian
- Henneman Peter
- Hercberg Serge
- Herder Christian
- Hernandez Dena
- Hernandez Dena G
- Herrera Lizbeth
- Herzig Karl-Heinz
- Hicks Andrew A
- Hietala Kustaa
- Higashio Julia
- Hillege Hans L
- Hilton Gina
- Hindorff Lucia
- Hingorani Aroon
- Hirschhorn Joel N
- Hivert Marie-France
- Ho Weang K
- Hocking Lynne J
- Hoffmann Wolfgang
- Hofman Albert
- Holliday Elizabeth G
- Holm Hilma
- Holmen Oddgeir
- Homuth Georg
- Hopewell Jemma C
- Horikoshi Momoko
- Hosseini Mohsen
- Hottenga Jouke-Jan
- Hovingh G Kees
- Howard Philip
- Hsiung Chao Agnes
- Hsu Yi-Hsiang
- Hu Frank B
- Huang Huateng
- Huang Jinyan
- Hui Jennie
- Humphries Steve E
- Hundertmark Claudia
- Hung Yi-Jen
- Hunt Sarah E
- Hunt Steven C
- Hunter David J
- Husted Lise Bjerre
- Hveem Kristian
- Hwang Shih-Jen
- Hyppönen Elina
- Igl Wilmar
- Ikram M Arfan
- Illig Thomas
- Imboden Medea
- Ingelsson Erik
- Ingle Catherine
- Ingvarsson Thorvaldur
- Ioannidis John P A
- Iribarren Carlos
- Isaacs Aaron
- Isakova Tamara
- Islam Muhammad
- Ittermann Till
- Iwai Naoharu
- Jackson Anne U
- Jackson Rebecca
- Jacobs Gunnar
- Jafar Tazeen H
- James Alan L
- Jameson Karen A
- Jang Yangsoo
- Janipalli Charles S
- Jansen Hanneke
- Janssens A Cecile J W
- Jarvelin Marjo-Riitta
- Jeff Janina
- Jenny Nancy
- Johannsdottir Hrefna
- Johansen Berit
- Johansson Ingegerd
- Johansson Åsa
- Johnson Andrew
- Johnson Louise
- Johnson Paul C D
- Johnson Toby
- Jones Graeme
- Jones Michelle R
- Jousilahti Pekka
- Ju Sung Yun
- Jukema J Wouter
- Jula Antti
- Juliusdottir Thorhildur
- Justice Anne E
- Järvelin Marjo-Riitta
- Jöckel Karl-Heinz
- Kaakinen Marika
- Kahali Bratati
- Kalafati Ioanna-Panagiota
- Kaleebu Pontiano
- Kammerer Candace M
- Kanaya Alka
- Kang Hyun M
- Kang Hyun Min
- Kangas Antti J
- Kanoni Stavroula
- Kao Linda
- Kao W H L
- Kao Wen Hong Linda
- Kaplan Robert C
- Kaprio Jaakko
- Kaptoge Stephen K
- Kapur Karen A
- Karasik David
- Kardia Sharon L
- Karjalainen Juha
- Karlsson Magnus
- Karpe Fredrik
- Kastelein John J P
- Kathiresan Sekar
- Katsareli Efi
- Kedenko Lyudmyla
- Kee Frank
- Keildson Sarah
- Keinanen-Kiukaanniemi Sirkka M
- Keller Benjamin J
- Kemp John P
- Kennedy Stephen H
- Kessler Thorsten
- Kestenbaum Bryan
- Kesäniemi Antero
- Ketkar Shamika
- Kettunen Johannes
- Keyzer Jules
- Khaw Kay-Tee
- Khusainova Rita
- Khusnutdinova Elza
- Kiel Douglas P
- Kiess Wieland
- Kilpeläinen Tuomas O
- Kim Eric
- Kim Ghi Su
- Kim Hyo-Soo
- Kim Hyung-Lae
- Kim Stuart K
- Kinnunen Leena
- Kinra Sanjay
- Kiryluk Krzysztof
- Kita Yoshikuni
- Kivimaki Mika
- Kizer Jorge R
- Klaric Irena Martinovic
- Kleber Marcus E
- Klopp Norman
- Kloppenburg Margreet
- Knowles David
- Knowles Joshua W
- Kocarnik Jonathan
- Koenig Wolfgang
- Koh Jung-Min
- Kolcic Ivana
- Koller Daniel L
- Kollerits Barbara
- Kollia Panagoula
- Kolonel Laurence
- Kolovou Genovefa
- Komulainen Pirjo
- Kong Augustine
- Kooner Ishminder K
- Kooner Jaspal
- Kooperberg Charles
- Koromila Theodora
- Koudstaal Peter J
- Kovacs Peter
- Kraft Peter
- Kraja Aldi T
- Kramer Holly
- Kratzer Wolfgang
- Krauss Ronald M
- Krestyaninova Maria
- Kretzler Matthias
- Kristiansson Kati
- Kroemer Heyo K
- Kronenberg Florian
- Kruk Marcin
- Krämer Bernhard K
- Kuh Diana
- Kulkarni Smita R
- Kuller Lew
- Kumar M J Kranthi
- Kumari Meena
- Kung Annie Wai Chee
- Kutalik Zoltan
- Kutalik Zoltán
- Kuulasmaa Kari
- Kuusisto Johanna
- Kuznetsova Tatiana
- Kwan Tony
- Kytö Janne
- Kyvik Kirsten O
- Kähönen Mika
- König Inke R
- Körner Antje
- Köttgen Anna
- Laakso Markku
- Laaksonen Marika
- Laaksonen Reijo
- Laan Maris
- LaCroix Andrea
- Lacroix Andrea Z
- Ladenvall Claes
- Ladouceur Martin
- Lagou Vasiliki
- Lahermo Päivi
- Lahti Jari
- Lai Sandra
- Laisk Triin
- Laitinen Jaana
- Lajer Maria
- Lakatta Edward G
- Lakka Timo A
- Lambert Ann
- Lamina Claudia
- Langdahl Bente Lomholt
- Langefeld Carl D
- Langenberg Claudia
- Langford Cordelia
- Larson Martin
- Larson Martin G
- Lathrop Mark
- Lauc Lovorka Barac
- Launer Lenore
- Laven Joop S E
- Lawlor Debbie A
- Lawrence Robert W
- Le Marchand Loic
- Le Marchand Loïc
- Leak Tennille S
- Leander Karin
- Lecoeur Cecile
- Lee Ji-Young
- Lee Jong-Young
- Lee Nanette R
- Lee Sang Hong
- Lee Seung Hun
- Lefebvre Pierre
- Lehtimäki Terho
- Lehto Markku
- Leo Paul J
- Leslie William D
- Leung Ping C
- Levy Daniel
- Lewis Joshua R
- Li Guo
- Li Man
- Li Rui
- Li Shengxu
- Li Xiaohui
- Li Yali
- Liang Liming
- Lichtner Peter
- Lifton Richard P
- Lim Unhee
- Lin Danyu
- Lin Peng
- Lin Shih-Yi
- Lin Yi
- Lind Lars
- Lindgren Cecilia M
- Lindström Jaana
- Lips Paul
- Liu Ching-Ti
- Liu Jianjun
- Liu Yongmei
- Ljunggren Östen
- Lobbens Stéphane
- Locke Adam E
- Lohman Kurt
- Lohman Kurt K
- Lokki Marja-Liisa
- Longstreth W T
- Loo Britt-Marie
- Loos Ruth J F
- Lopez Lorna M
- Lorenc Roman S
- Lorentzon Mattias
- Louwers Yvonne V
- Lowe Christopher E
- Lu Xiaoning
- Luan Jian'an
- Luben Robert
- Lucas Gavin
- Ludwig Barbara
- Lumley Thomas
- Lundmark Anders
- Lundmark Per
- Lunetta Kathryn L
- Lyssenko Valeriya
- Lyytikainen Leo-Pekka
- Lyytikäinen Leo-Pekka
- Ma Baoshan
- MacCluer Jean
- Macgregor Stuart
- Mach François
- Maerz Winfried
- Maestroni Anna
- Maestroni Silvia
- Magnusson Patrik K E
- Mahajan Anubha
- Malinowski Jennifer
- Mangino Massimo
- Mani K Radha
- Manning Alisa K
- Manolio Teri
- Maouche Seraya
- Marc Janja
- Marette André
- Marmot Michael G
- Marongiu Mara
- Marre Michel
- Martin Finian
- Martin Nicholas G
- Marullo Letizia
- Masciullo Corrado
- Masi Laura
- Mateo Leach Irene
- Matise Tara
- Mattace-Raso Francesco U S
- Matullo Giuseppe
- Maxwell Alexander P
- McArdle Patick F
- McArdle Patrick F
- McArdle Wendy L
- McCarthy Mark I
- McCloskey Eugene
- McKay Gareth J
- McKenzie Colin A
- McKnight Amy J
- McKnight Amy Jayne
- McKnight Barbara
- McPherson Ruth
- Medina-Gomez Carolina
- Medina-Gómez Carolina
- Medland Sarah E
- Meduri Eshwar
- Meigs James B
- Meisinger Christa
- Meitinger Thomas
- Melander Olle
- Melbye Mads
- Mellström Dan
- Melzer David
- Mencej-Bedrac Simona
- Meneton Pierre
- Menni Cristina
- Merger Sigrun
- Meschia James F
- Metspalu Andres
- Metzger Marie
- Meulenbelt Ingrid
- Mihai Ioana
- Mihailov Evelin
- Miki Tetsuro
- Milaneschi Yuri
- Milani Lili
- Miljkovic Iva
- Mills Rebecca
- Min Josine L
- Minelli Cosetta
- Minster Ryan L
- Mirel Daniel B
- Missmer Stacey A
- Mitchell Braxton D
- Mitchell Paul
- Mitchell Sabrina L
- Moayyeri Alireza
- Moffatt Miriam F
- Mohlke Karen L
- Moilanen Leena
- Monda Keri L
- Monroe Kristine
- Montasser May E
- Montgomery Grant W
- Montgomery Stephen B
- Mooijaart Simon P
- Mooser Vincent
- Mora Samia
- Morken Mario A
- Morris Andrew D
- Morris Andrew P
- Morris Richard W
- Morrison Alanna C
- Mosley Thomas H
- Mota Eugen
- Mota Maria
- Mulas Antonella
- Munroe Patricia
- Murabito Joanne M
- Murdock Deborah
- Murgia Federico
- Murray Anna
- Murray Jeffrey C
- Murray Sarah S
- Musani Solomon
- Musk Arthur W
- Mychaleckyj Josyf C
- Mägi Reedik
- Mäkinen Ville-Petteri
- Männistö Satu
- März Winfried
- Möhlenkamp Stefan
- Möllsten Anna
- Mühleisen Thomas W
- Müller Gabriele
- Müller Gabrielle
- Müller-Nurasyid Martina
- Nagaraja Ramaiah
- Najjar Samer
- Nalls Michael A
- Nandakumar Kannabiran
- Narisu Narisu
- Nato Andrew
- Nauck Matthias
- Navarro Pau
- Navis Gerjan
- Nelis Mari
- Nelson Robert G
- Ness Andrew R
- Nestle Frank O
- Newman Anne B
- Newton-Cheh Christopher
- Nguyen Khanh-Dung Hoang
- Nguyen Tuan V
- Nica Alexandra C
- Nicholson Geoffrey C
- Nicholson George
- Nieminen Markku S
- Nieminen Tuomo V M
- Nikopensius Tiit
- Nikus Kjell
- Nilsson Peter
- Nisbet James
- Njølstad Inger
- Nogues Xavier
- Nolte Ilja M
- North Kari E
- Northstone Kate
- Nsubuga Rebecca N
- Ntzani Evangelia E
- Nuotio Marja-Liisa
- Nyberg Fredrik
- Nyholt Dale R
- Nöthlings Ute
- O'Connell Jeffrey R
- O'Donnell Chris
- O'Rahilly Stephen
- O'Reilly Paul
- O'Reilly Paul F
- O'Seaghdha Conall M
- Obermayer-Pietsch Barbara
- Oei Ling
- Oetjens Matthew
- Ogihara Toshio
- Ohkubo Takayoshi
- Ohlsson Claes
- Okamura Tomonori
- Oksa Heikki
- Olafsson Isleifur
- Oldehinkel Albertine J
- Olden Matthias
- Olmos José M
- Olsson Christian
- Ong Ken K
- Ong Rick Twee-Hee
- Ongen Halit
- Onland-Moret N Charlotte
- Oostra Ben A
- Ordovas Jose M
- Org Elin
- Ormel Johan
- Orru Marco
- Ouwehand Willem H
- Painter Jodie N
- Palmas Walter
- Palmen Jutta
- Palmer Cameron
- Palmer Colin
- Palmer Lyle J
- Palmer Nicholette D
- Palotie Aarno
- Palsson Stefan Th
- Panduru Nicolae Mircea
- Pankow James
- Papamarkou Theodore
- Parish Sarah
- Park Jeong E
- Park Lani
- Parker Alex N
- Parkkonen Maija
- Parsa Afshin
- Parts Leopold
- Parving Hans-Henrik
- Paré Guillaume
- Pasko Dorota
- Pastinen Tomi
- Patel Millan S
- Paterson Andrew D
- Patsy Bruce
- Pattaro Cristian
- Paulweber Bernhard
- Peacock Munro
- Pechlivanis Sonali
- Peden John F
- Pedersen Nancy L
- Peeters Petra H M
- Peloso Gina M
- Peltonen Leena
- Pendergrass Sarah
- Pennell Craig E
- Penninx Brenda W
- Peralta Carmen A
- Perola Markus
- Perry John R B
- Pers Tune H
- Person Sharina
- Peters Annette
- Peters Marjolein J
- Peters Ulrike
- Petersen Ann-Kristin
- Pettersson-Kymmer Ulrika
- Peyser Patricia A
- Pharoah Paul
- Pihur Vasyl
- Pirastu Mario
- Pistis Giorgio
- Pitkäniemi Janne
- Platou Carl G P
- Plump Andrew
- Plump Andrew S
- Polasek Ozren
- Pols Huibert A P
- Pomilla Cristina
- Pop Victor J M
- Porcu Eleonora
- Portas Laura
- Postma Dirkje S
- Potter Simon
- Pouta Anneli
- Power Chris
- Prabhakaran Dorairajan
- Pramstaller Peter P
- Prentice Ross
- Prezelj Janez
- Price Jackie F
- Prince Richard L
- Prior Sarah
- Probst-Hensch Nicole M
- Prokopenko Inga
- Province Michael
- Province Michael A
- Psaty Bruce
- Pérusse Louis
- Qi Lu
- Quertermous Thomas
- Quibrera Miguel
- Rader Daniel J
- Rafelt Suzanne
- Raffel Leslie J
- Rafnar Thorunn
- Raitakari Olli
- Ralston Stuart H
- Randall Joshua C
- Rankinen Tuomo
- Rao D C
- Rao Dabeeru C
- Rao Madhumathi
- Rasheed Asif
- Rasmussen-Torvik Laura J
- Rathmann Wolfgang
- Rauramaa Rainer
- Raychaudhuri Soumya
- Rayner N William
- Rayner Nigel W
- Redline Susan
- Reeve Jonathan
- Rehnberg Emil
- Reid David M
- Reid Ian R
- Reilly Muredach
- Reinmaa Eva
- Renstrom Frida
- Reppe Sjur
- Restrepo Nicole
- Rettig Rainer
- Riancho José A
- Ricceri Fulvio
- Rice John P
- Rice Kenneth
- Rice Kenneth M
- Rice Treva K
- Rich Stephen S
- Richards J Brent
- Richards John Brent
- Ridker Paul
- Ried Janina S
- Rigalleau Vincent
- Ring Susan M
- Ripatti Samuli
- Ritchie Marylyn
- Rivadeneira Fernando
- Robbins John
- Roberts Robert
- Robertson Neil
- Robino Antonietta
- Roman Tamara S
- Rose Lynda M
- Roseman Fenella
- Rosengren Annika
- Rosengård-Bärlund Milla
- Rosinger Silke
- Rosmalen Judith G M
- Rosse Stephanie
- Rossing Peter
- Rotimi Charles
- Rotter Jerome I
- Rousseau François
- Roussel Ronan
- Rubin Diana
- Rudan Igor
- Rudock Megan E
- Ruggiero Daniela
- Rumpf Moritz P
- Ruokonen Aimo
- Rybin Denis
- Räikkönen Katri
- Saaristo Timo E
- Sadlier Denise M
- Sala Cinzia
- Salako Tunde
- Saleheen Danish
- Salem Rany M
- Salo Perttu
- Salomaa Veikko
- Salumets Andres
- Samani Nilesh
- Sambrook Philip N
- Sandholm Niina
- Sandhu Manjinder S
- Sanghera Dharambir K
- Sanna Serena
- Saraheimo Markku
- Saramies Jouko
- Sarti Cinzia
- Sarzynski Mark A
- Sattar Naveed
- Savage David A
- Saxena Richa
- Schadt Eric
- Scharnagl Hubert
- Scherag André
- Schlessinger David
- Schmidt Ellen M
- Schmidt Helena
- Schmidt Reinhold
- Scholtens Salome
- Schork Nicholas J
- Schreiber Stefan
- Schumacher Fredrick
- Schunkert Heribert
- Schwartz Stephen M
- Schwarz Peter E H
- Schäfer Arne
- Scollen Serena
- Scott James
- Scott Laura J
- Scott Robert A
- Scuteri Angelo
- Seeley Janet
- Segrè Ayellet V
- Sehmi Joban S
- Seielstad Mark
- Sekowska Magdalena
- Semple Robert
- Sengupta Sebanti
- Sennblad Bengt
- Serafinceanu Cristian
- Service Susan K
- Seshadri Sudha
- Seufferlein Thomas
- Shah Sonia
- Shah Svati H
- Sham Pak Chung
- Sharma Pankaj
- Shaw-Hawkins Sue
- Sheu Wayne H-H
- Shi Gang
- Shin So-Youn
- Shlipak Michael G
- Shohet Ralph
- Shrine Nick R G
- Shriner Daniel
- Shuldiner Alan R
- Shungin Dmitry
- Sidore Carlo
- Siegbahn Agneta
- Siggeirsdottir Kristin
- Sigurdsson Gunnar
- Sijbrands Eric J G
- Silander Kaisa
- Sim Xueling
- Singleton Andrew
- Sinisalo Juha
- Siscovick David S
- Sitlani Colleen M
- Sivananthan Mohan
- Sjögren Marketa
- Skorpen Frank
- Slaets Joris P
- Slagboom P Eline
- Small Kerrin
- Small Kerrin S
- Smit Johannes H
- Smith Albert
- Smith Erin N
- Smith George Davey
- Smith Jennifer A
- Smith Nicholas L
- Snider Harold
- Snieder Harold
- Soininen Pasi
- Song Ci
- Song Kijoung
- Soranzo Nicole
- Sorice Rossella
- Soro-Paavonen Aino
- Sovio Ulla
- Spector Tim D
- Spector Timothy D
- Speliotes Elizabeth K
- Spencer Kylee
- Srinivasan Sathanur R
- St Pourcain Beate
- Stacey Simon N
- Staessen Jan A
- Stanèáková Alena
- Stančáková Alena
- Stark Klaus
- Starr John M
- Stathopoulou Maria G
- Stavarachi Monica
- Stefansson Kari
- Steinle Nanette I
- Steinthorsdottir Valgerdur
- Stewart Alexandre F R
- Stirrups Kathleen
- Stolk Lisette
- Stolk Ronald P
- Strachan David P
- Stracke Sylvia
- Stram Daniel
- Strauch Konstantin
- Strawbridge Rona J
- Streeten Elizabeth A
- Stringham Heather M
- Struchalin Maksim
- Stumvoll Michael
- Styrkarsdottir Unnur
- Sulem Patrick
- Sun Yan V
- Sundström Johan
- Surakka Ida
- Surdulescu Gabriela
- Svensson Olle
- Swan Elizabeth J
- Swertz Morris A
- Swift Amy J
- Syreeni Anna
- Syvänen Ann-Christine
- Sõber Siim
- Söderlund Jenny
- Tabara Yasuharu
- Tai E Shyong
- Taliun Daniel
- Talmud Philippa J
- Tammesoo Mar-Liis
- Tan Sian-Tsung
- Tanaka Toshiko
- Tang Nelson L S
- Tarnow Lise
- Taylor Andrew
- Taylor Kira
- Tayo Bamidele
- Tenesa Albert
- Terzic Janos
- Teslovich Tanya M
- Teumer Alexander
- Thelle Dag S
- Thompson John R
- Thorand Barbara
- Thorgeirsson Gudmundur
- Thorleifsson Gudmar
- Thorn Lena M
- Thornton-Wells Tricia
- Thorsteinsdottir Unnur
- Thun Gian-Andri
- Tiirikainen Maarit
- Tikkanen Emmi
- Tikkanen Heikki
- Timpson Nicholas
- Timpson Nicholas J
- Tin Adrienne
- Tiret Laurence
- Tobin Martin
- Tobin Martin D
- Toenjes Anke
- Tolonen Nina
- Tomaschitz Andreas
- Tomaszewski Maciej
- Toniolo Daniela
- Townsend Raymond R
- Tracy Russell P
- Travers Mary E
- Tregouet David-Alexandre
- Treloar Susan A
- Tremblay Angelo
- Tremoli Elena
- Tripathy Vikal
- Troffa Chiara
- Trompet Stella
- Trummer Olivia
- Tryggvadottir Laufey
- Tryggvason Karl
- Trégouët David-Alexandre
- Tsaprouni Loukia
- Tsoka Sophia
- Tsui Kim
- Tukiainen Taru
- Tuomilehto Jaakko
- Turner Stephen T
- Tylavsky Frances A
- Tyrer Jonathon
- Tzoulaki Ioanna
- Tönjes Anke
- Uda Manuela
- Ueshima Hirotsugu
- Uh Hae-Won
- Uiterwaal Cuno S P M
- Uitterlinden Andre G
- Uitterlinden André G
- Ulivi Sheila
- Ulivi Shelia
- Umans Jason
- Umemura Satoshi
- Urreizti Roser
- Uusitupa Matti
- Vallejo Edgar E
- van Dam Rob M
- Van den Herik Evita G
- van der Harst Pim
- van der Klauw Melanie M
- van der Schoot C Ellen
- van der Schouw Yvonne T
- van Duijn Cornelia
- Van Duijn Cornelia
- van Gils Carla H
- van Gilst Wiek H
- van Heemst Diana
- Van Hul Wim
- van Meurs Joyce B J
- van Meurs Joyve B J
- van Nierop Peter
- van Oort Floor V A
- van Pelt L Joost
- van Schoor Natasja M
- Van Vliet-Ostaptchouk Jana V
- van Wingerden Sophie
- van Wingerden Sophie W
- Van Zuydam Natalie
- Vandenput Liesbeth
- Varga Tibor V
- Vartiainen Erkki
- Vasan Ramachandran S
- Vedantam Sailaja
- Veldre Gudrun
- Verlaan Dominique
- Vernon Smith Albert
- Veronesi Giovanni
- Verweij Niek
- Verwoert Germaine
- Verwoert Germaine C
- Viigimaa Margus
- Viikari Jorma
- Vinay D G
- Vineis Paolo
- Vink Jacqueline M
- Virtamo Jarmo
- Visscher Peter M
- Visser Jenny A
- Vitart Veronique
- Vohl Marie-Claude
- Voight Benjamin F
- Volcik Kelly A
- Vollenweider Peter
- Vonk Judith M
- Voorhuis Marlies
- Völker Uwe
- Völzke Henry
- Wadén Johan
- Waeber Gerard
- Waeber Gérard
- Wagenknecht Lynne E
- Waggott Daryl
- Wagner Peter J
- Wain Louise V
- Wainwright Nicholas
- Waite Lindsay L
- Walker Mark
- Wallace Leanne
- Wallaschofski Henri
- Wallentin Lars
- Wang Hansong
- Wang Jie Jin
- Wang Thomas J
- Wang Xiaoling
- Wareham Nicholas
- Wareham Nick J
- Warrington Nicole M
- Watanabe Richard M
- Waterworth Dawn
- Watkins Hugh
- Weder Alan B
- Weedon Michael N
- Welch Ryan P
- Wells George A
- Wennauer Roman
- Westra Harm-Jan
- Wheeler Eleanor
- Wheeler Heather E
- Whincup Peter H
- Whitfield John B
- Wichmann H Erich
- Wichmann H-Erich
- Widen Elisabeth
- Wiggins Kerri L
- Wijmenga Cisca
- Wijnands-van Gent Colette J M
- Wild Philipp S
- Wild Sarah H
- Wilk Alicja
- Wilkens Lynne
- Willems Sara M
- Willemsen Gonneke
- Willemsvan-vanDijk Ko
- Willenborg Christina
- Willer Cristen J
- Williams Frances M K
- Williams Rasheeda
- Williams Winfred W
- Willner Dana
- Wilsgaard Tom
- Wilson James F
- Wilson James G
- Wilson Sarah
- Wilson Scott G
- Winkler Thomas
- Witteman Jacqueline C
- Witteman Jacqueline C M
- Wojczynski Mary K
- Wolffenbuttel Bruce H R
- Wong Andrew
- Wong Tien Y
- Woo Jean
- Wood Andrew R
- Wood Andy
- Workalemahu Tsegaselassie
- Wright Alan F
- Wu Chunyuan
- Wu Joseph M W
- Wu Ying
- Würtz Peter
- Xiao Su-Mei
- Yajnik Chittaranjan S
- Yang Jian
- Yang Qiong
- Yang Tsun-Po
- Yao Jie
- Yengo Loïc
- Yerges-Armstrong Laura M
- Young Alicia
- Young Elizabeth H
- Young J H
- Young Lauren
- Yuan Xin
- Zaboli Ghazal
- Zalloua Pierre A
- Zarrabeitia María T
- Zelenika Diana
- Zemunik Tatijana
- Zerbini Gianpaolo
- Zgaga Lina
- Zhai Guangju
- Zhang Feng
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Zhao Wei
- Zheng Hou-Feng
- Zheng Wei
- Zhou Yanhua
- Zhu Haidong
- Zhu Kun
- Zhu Xiaofeng
- Zhuang Wei V
- Zhuang Wei Vivian
- Ziegler Andreas
- Zillikens M Carola
- Zimmermann Martina E
- Zitting Paavo
- Zondervan Krina T
- Zukowska-Szczechowska Ewa
- Zygmunt Marek
- Ärnlöv Johan
- Österholm Anne-May
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2015
- Field of study
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes.
- Author
- Abecasis Goncalo
- Abecasis Gonçalo R.
- Aben Katja K.
- Absher Devin
- Aherrahrou Zouhair
- Ahlqvist Emma
- Ahmadi Kourosh
- Ahmed Nabeel
- Alavere Helene
- Alibrandi Maria T S
- Allayee Hooman
- Almgren Peter
- Altshuler David
- Amin Najaf
- Anand Sonia S.
- Andersen Karl
- Anderson Jeffrey L.
- Ardissino Diego
- Ardlie Kristin
- Armitage Jane
- Arnold Alice M.
- Aspelund Thor
- Assimes Themistocles L.
- Assmann Gerd
- Atwood Larry D.
- Aulchenko Yurii S.
- Azhar Muhammad
- Balkau Beverley
- Ball Stephen G.
- Balmforth Anthony J.
- Barbalic Maja
- Barker Adam
- Barker David J P
- Barlassina Christina
- Barlera Simona
- Barnes Daniel
- Barnes Timothy A.
- Barrett Amy
- Barroso H
- Barroso Inês
- Bataille Veronique
- Becker Diane M.
- Becker Lewis C.
- Beckmann Jacques S.
- Beilby John P.
- Ben-Shlomo Yoav
- Benediktsson Rafn
- Bennett Amanda J.
- Berger Klaus
- Bergman Richard N.
- Bergmann Sven
- Bernd Sonja I.
- Berndt Sonja I
- Biebermann Heike
- Bis Joshua C.
- Blagieva Roza
- Blakemore Alexandra I F
- Blankenberg Stefan
- Boehm Bernhard O.
- Boehnke Michael
- Boehnke Mike
- Boeing Heiner
- Boekholdt S. Matthijs
- Boerwinkle Eric
- Boes Tanja
- Bonnycastle Lori L.
- Boomsma Dorret I.
- Borecki Ingrid B.
- Bornstein Stefan R.
- Boström Kristina Bengtsson
- Bouatia-Naji Nabila
- Bowman Louise
- Bragi Walters G.
- Braund Peter S.
- Bravenboer Bert
- Brown Morris J.
- Buchanan Thomas A.
- Bumpstead Suzannah
- Burnett Mary Susan
- Burtt Noisël P.
- Busonero Fabio
- Buysschaert Ian
- Cambien Francois
- Campbell Harry
- Cappuccio Francesco P.
- Cardiogenics [Unknown]
- Carlquist John F.
- Cauchi Stephane
- Caulfield Mark
- Cavalcanti-Proença Christine
- Chambers John C.
- Chanock Stephen J.
- Charpentier Guillaume
- Chasman Daniel I.
- Chatterjee Nilanjan
- Chen Chih Mei
- Chen Han
- Chen Li
- Chines Peter S.
- Cichon Sven
- Clarke Robert
- Codd Veryan
- Coin Lachlan
- Collins Francis S.
- Collins Rory
- Connell John
- Cooper Cyrus C.
- Cooper Matthew N.
- Cornelis Marilyn
- Couper David J.
- Crawford Gabe
- Cupples L. Adrienne
- Daly Mark J.
- Danesh John
- Davies Robert W.
- Day Ian N M
- de Faire Ulf
- Dedoussis George
- Dehghan Abbas
- Deloukas Panos
- Demissie Serkalem
- den Heijer Martin
- Dennison Elaine M.
- Dermitzakis Emmanouil T.
- Devaney Joseph M.
- di Meglio Paola
- Diemert Patrick
- Dimas Antigone S.
- Dina Christian
- Dixon Anna L.
- Do Ron
- Doering Angela
- Doney Alex S F
- Donnelly Peter
- Dorret I Boomsma
- Duan Jubao
- Dupuis Josée
- Durbin Richard
- Ebrahim Shah
- Eifert Sandra
- Eiriksdottir Gudny
- El Mokhtari Nour Eddine
- Elliott Amanda L.
- Elliott Katherine S.
- Elliott Paul
- Ellis Stephen G.
- Elosua Roberto
- Engert James C.
- Epstein Stephen E.
- Erdmann Jeanette
- Erdos Michael R.
- Eric E Schadt
- Eriksson Johan G.
- Eriksson Per
- Esko Tõnu
- Estrad Karol
- Estrada Karol
- Eury Elodie
- Facheris Maurizio F.
- Farooqi I. Sadaf
- Farrall Martin
- Feitosa Mary F.
- Felix Stephan B.
- Ferrannini Ele
- Ferreir Teresa
- Ferreira Teresa
- Fischer Marcus
- Fischer-Posovszky Pamela
- Fisher Eva
- Florez Jose C.
- Folkersen Lasse
- Folsom Aaron R.
- Forsen Tom J.
- Fox Caroline S.
- Franklin Christopher S.
- Franzosi Maria Grazia
- Frayling Timothy M.
- Freimer Nelson B.
- Freyer Jennifer
- Friedrich Nele
- Froguel Philippe
- Frossard Philippe
- Fu Mao
- Gaget Stefan
- Ganser Martha
- Gardezi Ali
- Gejman Pablo V.
- Geus Eco J C
- Gieger Christian
- Gigante Bruna
- Girelli Domenico
- Gjesing Anette P.
- Glass Daniel
- Glazer Nicole L.
- Gloyn Anna L.
- Goddard Michael E.
- Goel Anuj
- Goodall Alison H.
- Goyette Philippe
- Grallert Harald
- Grarup Niels
- Green Fiona
- Green Todd
- Greenawalt Danielle M.
- Gretarsdottir Solveig
- Griffin Simon
- Groop Leif
- Groop Leif C.
- Groves Christopher J.
- Grundberg Elin
- Gräßler Jürgen
- Grönberg Henrik
- Gu Harvest
- Gudnason Vilmundur
- Guiducci Candace
- Gulcher Jeffrey R.
- Gustafsso Stefan
- Gustafsson Stefan
- Gyllensten Ulf
- Hadjadj Samy
- Hall Alistair S.
- Hall Per
- Halperin Eran
- Hammond Christopher J.
- Hammond Naomi
- Hamsten Anders
- Han Chen
- Hansen Torben
- Haritunians Talin
- Harris Tamara B.
- Hartikainen Anna Liisa
- Hassanali Neelam
- Hattersley Andrew T.
- Havulinna Aki S.
- Hayes Richard B.
- Hayward Caroline
- Hazen Stanley L.
- Heard-Costa Nancy L.
- Heath Andrew C.
- Hebebrand Johannes
- Hedman Åsa K.
- Hei Iris M.
- Heid Iris M
- Heinrich Joachim
- Hellénius Mai Lis
- Hengstenberg Christian
- Herder Christian
- Hicks Andrew A.
- Hide Winston A.
- Hinney Anke
- Hirschhorn Joel N.
- Hitman Graham A.
- Hoesel Volker
- Hofman Albert
- Hofmann Oliver M.
- Holm Hilma
- Homuth Georg
- Hopewell Jemma C.
- Horikoshi Momoko
- Horne Benjamin D.
- Hottenga Jouke Jan
- Hu Frank B.
- Hui Jennie
- Huikuri Heikki V.
- Hunter David J.
- Huth Cornelia
- Hveem Kristian
- Ida Chen Yii Der
- Igl Wilmar
- Illig Thomas
- Ingelsson Erik
- Ingle Catherine
- Iribarren Carlos
- Ishaq Muhammad
- Isomaa Bo
- Jackso Anne U.
- Jackson Anne U.
- Jacobs Kevin B.
- James Alan L.
- Jameson Karen A.
- Jansson John Olov
- Jarick Ivonne
- Jarvelin Marjo Riitta
- Jewell Elizabeth
- Johansson Åsa
- John Ulrich
- Johnson Paul
- Johnson Paul R V
- Johnson Toby
- Jones Gregory T.
- Jousilahti Pekka
- Jukema J. Wouter
- Jula Antti
- Jørgensen Torben
- Kaakinen Marika
- Kaiser Michael A.
- Kajantie Eero
- Kanoni Stavroula
- Kao Wen H L
- Kaplan Lee M.
- Kaplan Robert C.
- Kaprio Jaakko
- Karpe Fredrik
- Kastelein John J P
- Kathiresan Sekar
- Kerr-Conte Julie
- Ketkar Shamika
- Kettunen Johannes
- Khaw Kay Tee
- Kiemeney Lambertus A.
- Kilpeläine Tuomas O.
- Kilpeläinen Tuomas O
- Kinnunen Leena
- Klopp Norman
- Knowles Joshua W.
- Kolcic Ivana
- Kolovou Genovefa
- Kong Augustine
- Kooner Angad S.
- Kooner Jaspal S.
- Koskinen Seppo
- Kovacs Peter
- Kraft Peter
- Krude Heiko
- Kutalik Zoltán
- Kuulasmaa Teemu
- Kuusisto Johanna
- Kvaløy Kirsti
- Kyriakou Theodosios
- Kähönen Mika
- König Inke R.
- Laakso Markku
- Laaksonen Reijo
- Laitinen Jaana
- Lambrechts Diether
- Lamina Claudia
- Langenberg Claudia
- Lango Allen Hana
- Lantieri Olivier
- Lanzani Chiara
- Launer Lenore J.
- Lauritzen Torsten
- Lawlor Debbie A.
- Lawrence Robert W.
- Leander Karin
- Lecoeur Cecile
- Lehtimäki Terho
- Lettre Guillaume
- Levinson Douglas F.
- Li Man
- Li Mingyao
- Li Shengxu
- Lian Liming
- Liang Liming
- Lieb Wolfgang
- Lieverse Aloysius
- Lind Lars
- Lindgre Cecilia M.
- Lindgren Cecilia M.
- Linksted Pamela
- Liu Jianjun
- Lokki Marja Liisa
- Loley Christina
- Loos Ruth J F
- Lorentzon Mattias
- Lotery Andrew J.
- Lua Jian'an
- Luan Jian'an
- Luben Robert N.
- Ludwig Barbara
- Lyssenko Valeriya
- Macciardi Fabio
- MAGIC [Unknown]
- Makrilakis Konstantinos
- Mallick Nadeem
- Mangino Massimo
- Mannila Maria Nastase
- Manning Alisa K.
- Mannucci Pier M.
- Manunta Paolo
- Maouche Seraya
- Marek Diana
- Marre Michel
- Martin Nicholas G.
- Martinelli Nicola
- Martínez-Larrad María Teresa
- McArdle Wendy L.
- McCarroll Steve A.
- McCarroll Steven A.
- McCarthy Anne
- McCarthy Mark
- McCulloch Laura J.
- McKeown Pascal P.
- McKnight Barbara
- McPherson Ruth
- Meigs James B.
- Meisinger Christa
- Meitinger Thomas
- Melander Olle
- Memon Fazal ur Rehman
- Merlini Pier Angelica
- Metspalu Andres
- Meyre David
- Midthjell Kristian
- Min Josine L.
- Moffatt Miriam F.
- Mohlke Karen L.
- Mond Keri L.
- Monda Keri L
- Montgomery Grant W.
- Montgomery Stephen B.
- Mooser Vincent
- Morgan Thomas
- Morken Mario A.
- Morris Andrew D.
- Morris Andrew P.
- Muhlestein Joseph B.
- Mulic Rosanda
- Munroe Patricia B.
- Musunuru Kiran
- Myers Richard H.
- Mäg Reedik
- Mägi Reedik
- Mälarstig Anders
- März Winfried
- Mühleisen Thomas W.
- Münzel Thomas
- Nahrstaedt Janja
- Narisu Narisu
- Navarro Pau
- Nelis Mari
- Nelson Christopher P.
- Nemes James
- Nemesh James
- Nestle Frank O.
- Neville Matt J.
- Ngwa Julius S.
- Nica Alexandra C.
- Nieminen Markku S.
- Nilesh J Samani
- Nilsson Peter
- Nisbet James
- North Kari E.
- Nyholt Dale R.
- Nöthen Markus M.
- O'Connell Jeffrey R.
- O'Donnel Christopher J.
- O'Donnell Christopher J.
- O'Rahilly Stephen
- O'Rahilly Steve
- Offer Alison
- Ohlsson Claes
- Ohrvik John
- Olivieri Oliviero
- Olsson Gunnar
- Ong Ken K.
- Ongen Halit
- Oostra Ben
- Osmond Clive
- Ostenson Claes-Göran
- Ouwehand Willem H.
- Owen Katharine R.
- Palmer Colin N A
- Palmer Lyle J.
- Pankow James S.
- Par Ju Hyun
- Parish Sarah
- Park Ju-Hyun
- Parker Alex N.
- Parts Leopold
- Paré Guillaume
- Pascoe Laura
- Patel Riyaz S.
- Patterson Chris C.
- Pattou François
- Payne Felicity
- Peden John F.
- Pedersen Oluf
- Pellikka Niina
- Peltonen Leena
- Penninx Brenda W.
- Perola Markus
- Perry John R B
- Peter M Visscher
- Peters Annette
- Peters Marjolein J.
- Petersen Ann Kristin
- Peto Richard
- Petrie John R.
- Peyvandi Flora
- Pichler Irene
- Pietiläinen Kirsi H.
- Platou Carl
- Platou Carl G P
- Polasek Ozren
- Potter Simon
- Pouta Anneli
- Pramstaller Peter P.
- Preuss Michael
- Proença Christine
- Prokopenko Inga
- Purcell Shaun
- Qi Lu
- Qu Liming
- Quertermous Thomas
- Quyyumi Arshed A.
- Rader Daniel J.
- Rafelt Suzanne
- Raitakari Olli
- Rallidis Loukianos S.
- Randal Joshua C.
- Randall Joshua C
- Rasheed Asif
- Rathmann Wolfgang
- Raychaudhuri Soumya
- Rayner N. William
- Rayner Nigel W.
- Reilly Muredach P.
- Reinehr Thomas
- Rice Catherine
- Ridderstråel Martin
- Ridderstråle Martin
- Ridker Paul M.
- Rief Winfried
- Ripatti Samuli
- Rissanen Aila
- Rivadeneira Fernando
- Roberts Robert
- Robertson Neil R.
- Rocheleau Ghislain
- Roden Michael
- Rosendaal Frits R.
- Rubin Diana
- Rudan Igor
- Ruokonen Aimo
- Rust Stephan
- Rybin Denis
- Rzehak Peter
- Ríos Manuel Serrano
- Sabater-Lleal Maria
- Saleheen Danish
- Salomaa Veikko
- Samad Adbus
- Samani Nilesh
- Sampietro M. Lourdes
- Sampson Michael J.
- Samuel Maria
- Sanders Alan R.
- Sandholt Camilla
- Sandhu Manj S.
- Sandhu Manjinder S.
- Sanna Serena
- Saramies Jouko
- Savolainen Markku J.
- Saxena Richa
- Sayer Avan A.
- Schadt Eric
- Scherag Andre
- Scherag Susann
- Schillert Arne
- Schipf Sabine
- Schlessinger David
- Schreiber Stefan
- Schrezenmeir Jürgen
- Schunkert Heribert
- Schwartz Stephen M.
- Schwarz Peter E H
- Schäfer Arne
- Scott James
- Scott Laura J.
- Seedorf Udo
- Segrè Ayellet V.
- Sehmi Joban
- Sekowska Magdalena
- Sennblad Bengt
- Shah Nabi
- Shaun Purcell
- Shi Jianxin
- Shields Beverley M.
- Shrader Peter
- Shuldiner Alan R.
- Sigurdsson Gunnar
- Sijbrands Eric
- Silander Kaisa
- Silveira Angela
- Sinisalo Juha
- Siscovick David S.
- Sivananthan Mohan
- Sivapalaratnam Suthesh
- Sladek Rob
- Sleight Peter
- Small Kerrin
- Smit Jan H.
- Smith Albert
- Smith George Davey
- Smith Tamara B.
- Snoep Jaapjan D.
- Soranzo Nicole
- Sovio Ulla
- Sparsø Thomas
- Spector Timothy D.
- Speliote Elizabeth K.
- Speliotes Elizabeth K
- Spertus John A.
- Stancakova Alena
- Stark Klaus
- Stefansson Kari
- Stein Lincoln D.
- Steinthorsdotti Valgerdur
- Steinthorsdottir Valgerdur
- Stephens Jonathan
- Stewart Alexandre F R
- Stirrups Kathy
- Stoll Monika
- Strachan David P.
- Strassburger Klaus
- Strawbridge Rona
- Stringha Heather M.
- Stringham Heather M.
- Stumvoll Michael
- Sun Qi
- Surakka Ida
- Surdulescu Gabriela
- Swift Amy J.
- Syvänen Ann Christine
- Tammesoo Mari Liis
- Taneera Jalal
- Tang W. H Wilson
- Tardif Jean Claude
- Teder-Laving Maris
- Tennstedt Stephanie
- Terho Lehtimäki
- Teslovich Tanya M.
- Thiering Elisabeth
- Thompson John R.
- Thomson Brian
- Thorand Barbara
- Thorgeirsson Gudmundur
- Thorleifsso Gudmar
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Tichet Jean
- Timpson Nicholas J.
- Tognoni Gianni
- Tomaszewski Maciej
- Travers Mary
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Turrini Fabiola
- Tyrer Jonathan P.
- Tzenova Bell Jordana
- Tönjes Anke
- Uda Manuela
- Uitterlinden Andre
- Uitterlinden Andre G.
- Uitterlinden André
- Valle Timo T.
- van Dam Rob M.
- van Duijn Cornelia M.
- van Haeften Timon W.
- van Herpt Thijs
- van Hoek Mandy
- van Meurs Joyce B.
- van Ommen Gert Jan
- van Rij Andre M.
- van Vliet Jana V
- van Vliet-Ostaptchouk Jana V.
- van Wingerden Sophie
- van't Hooft Ferdinand
- Vatin Vincent
- Vedanta Sailaja
- Vedantam Sailaja
- Viikari Jorma
- Visscher Peter M.
- Visvikis-Siest Sophie
- Vitart Veronique
- Vogel Carla I G
- Voight Benjamin F.
- Wabitsch Martin
- Waeber Gérard
- Waite Lindsay L.
- Walker Mark
- Wallaschofski Henri
- Walter G. Bragi
- Wareham Nicholas J.
- Wareham Nick J.
- Watanabe Richard M.
- Watkins Hugh
- Weedo Michael N.
- Weedon Michael N.
- Welch Ryan
- Wells George A.
- Weyan Robert J.
- Weyant Robert J
- Wheele Eleanor
- Wheeler Eleanor
- White Charles C.
- Wichmann H. Erich
- Widen Elisabeth
- Wiegand Susanna
- Wijmenga Cisca
- Wiklund Fredrik
- Wild Philipp S.
- Wild Sarah H.
- Wilk Alicja
- Wille Cristen J.
- Willemsen Gonneke
- Willenborg Christina
- Willer Cristen J.
- Wilson James F.
- Winkle Thomas W.
- Winkler Thomas W
- Witte Daniel R.
- Witteman Jacqueline
- Witteman Jacqueline C.
- Witteman Jaqueline C M
- Woo Andrew R.
- Wood Andrew R
- Workalemah Tsegaselassie
- Workalemahu Tsegaselassie
- Wright Alan F.
- Wright Benjamin J.
- Wu Guanming
- Xie Weijia
- Xu Jianfeng
- Yang Jian
- Yang Tsun Po
- Ye Shu
- Zabena Carina
- Zaidi Moazzam
- Zaman Khan Shah
- Zeggini Eleftheria
- Zeller Tanja
- Zethelius Björn
- Zgaga Lina
- Zhang Qunyuan
- Zhang Weihua
- Zhao Jing Hua
- Ziegler Andreas
- Zillikens M. Carola
- Zitting Paavo
- Zondervan Krina T.
- Öhrvik John
- Östenson Claes Göran
- Publication venue
- Diabetes
- Publication date
- 01/01/2011
- Field of study
OBJECTIVE: Proinsulin is a precursor of mature insulin and C-peptide. Higher circulating proinsulin levels are associated with impaired β-cell function, raised glucose levels, insulin resistance, and type 2 diabetes (T2D). Studies of the insulin processing pathway could provide new insights about T2D pathophysiology. RESEARCH DESIGN AND METHODS: We have conducted a meta-analysis of genome-wide association tests of ∼2.5 million genotyped or imputed single nucleotide polymorphisms (SNPs) and fasting proinsulin levels in 10,701 nondiabetic adults of European ancestry, with follow-up of 23 loci in up to 16,378 individuals, using additive genetic models adjusted for age, sex, fasting insulin, and study-specific covariates. RESULTS: Nine SNPs at eight loci were associated with proinsulin levels (P < 5 × 10(-8)). Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has been associated with fasting glucose, one (PCSK1) has been implicated in obesity, and four (TCF7L2, SLC30A8, VPS13C/C2CD4A/B, and ARAP1, formerly CENTD2) increase T2D risk. The proinsulin-raising allele of ARAP1 was associated with a lower fasting glucose (P = 1.7 × 10(-4)), improved β-cell function (P = 1.1 × 10(-5)), and lower risk of T2D (odds ratio 0.88; P = 7.8 × 10(-6)). Notably, PCSK1 encodes the protein prohormone convertase 1/3, the first enzyme in the insulin processing pathway. A genotype score composed of the nine proinsulin-raising alleles was not associated with coronary disease in two large case-control datasets. CONCLUSIONS: We have identified nine genetic variants associated with fasting proinsulin. Our findings illuminate the biology underlying glucose homeostasis and T2D development in humans and argue against a direct role of proinsulin in coronary artery disease pathogenesis
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
- Author
- Abecasis GR
- Abecasis GR
- Abecasis Goncalo R.
- Absher D
- Absher D
- Aherrahrou Z
- Ahmadi KR
- Alavere Helene
- Alizadeh Behrooz Z.
- Altshuler D
- Altshuler David
- Amin Najaf
- Andersen K
- Andrews JS
- Aragam J
- Arking DE
- Arnett DK
- Arora Pankaj
- Aspelund T
- Aspelund T
- Aspelund Thor
- Assime TL
- Assimes TL
- Assimes TL
- Atkinson EJ
- Attwood T
- Aulchenko YS
- Aulchenko YS
- Aulchenko YS
- Aulchenko Yurii
- Badola S
- Bakker SJ
- Ball SG
- Balmforth AJ
- Bandinelli Stefania
- Barbalic M
- Barroso In S.
- Beckmann J
- Beckmann Jacques S.
- Beilby John P.
- Bekaert S
- Belz S
- Benjamin E
- Benjamin EJ
- Benjamin EJ
- Bergman Richard N.
- Bergmann Sven
- Bickel C
- Bilo HJ
- Bis J
- Bis JC
- Bis JC
- Bis Joshua C
- Blankenberg S
- Blankenberg S
- Blankenberg S
- Blettner M
- Boban M
- Boban Mladen
- Bochud M
- Bochud Murielle
- Boehnke Michael
- Boerwinkle E
- Boerwinkle E
- Boerwinkle E
- Boerwinkle E
- Boerwinkle Eric
- Boomsma Dorret I.
- Borecki I
- Bragg-Gresham Jennifer L.
- Brandstätter A
- Braund P
- Braund PS
- Breteler Monique
- Brown MJ
- Bruse P
- Buckley Brendan
- Burke Gregory L
- Burnett MS
- Burtt N
- Böger CA
- Böhm BO
- Cambien F
- Cambien F
- Campbell H
- Campbell S
- Campbell Harry
- Caulfield MJ
- Caulfield Mark J.
- Cavalieri M
- Chakravarti Aravinda
- Chambers JC
- Chambers John C.
- Chang PP
- Chasman DI
- Chasman Daniel I.
- Chen IY
- Chen L
- Chen L
- Chen Yii-Der Ida
- Clarke Robert
- Cockcroft JR
- Collins Francis S.
- Connell JM
- Cook HT
- Cooper J
- Coresh J
- Cornelia M. McEniery CM
- Cornelis MC
- Corre Tanguy
- Corsi Anna Maria
- Cotlarciuc I
- Couper D
- Crisp-Hihn A
- Cupples L
- Cupples LA
- Cupples LA
- Curhan GC
- D'Adamo Adamo Pio
- Dandona S
- Davey Smith G
- Davies Gail
- de Andrade M
- De Backer GG
- De Bacquer D
- de Boer IH
- De Buyzere ML
- De Geus Eco J. C.
- de Jong PE
- De Meyer T
- de Silva R
- Deary Ian J.
- Debette Stéphanie
- Deckers JW
- Dehghan A
- Dehghan A
- Dehghan A
- Dehghan A
- Dehghan A
- Del Greco M Fabiola
- Deloukas P
- Deloukas P
- Demissie S
- Demissie-Banjaw S
- Deng G
- Destefano Anita L.
- Devaney J
- Devuyst O
- Dikkeschei LD
- Dimkovic N
- Ding J
- Dobnig H
- Dockrell M
- Doering A
- Dominiczak A
- Döring Angela
- Dörr M
- Dörr Marcus
- Eardman J
- Ebrahim S
- Eggermann T
- Ehret Georg B.
- Eiriksdottir G
- Eiriksdottir G
- Ellinghaus D
- Elliott P
- Elliott Paul
- Elosua R
- Emilsson Valur
- Endlich K
- Epstein SE
- Erdmann J
- Erdmann J
- Erdmann J
- Erdmann J
- Erdmann J
- Erdmann J
- Erdmann Jeanette
- Esko Tõnu
- Eyheramendy Susana
- Fabretto Antonella
- Facheris Maurizio
- Faletra Flavio
- Farrall M
- Farrall Martin
- Feitosa M
- Felix JF
- Felix JF
- Felix JF
- Felix SB
- Felix Janine F.
- Ferrucci L
- Ferrucci L
- Ferrucci L
- Ferrucci Luigi
- Fischer M
- Floege J
- Foad N
- Folsom A
- Folsom AR
- Fornage Myriam
- Forouhi NG
- Fortmann S
- Fox CS
- Fox ER
- Franke A
- Friedrich N
- Fu Jingyuan
- Fuchsberger C
- Gabriel SB
- Galan Pilar
- Gale DP
- Ganesh Santhi K.
- Gansevoort RT
- Gao X
- Gasparini Paolo
- Giallauria F
- Gibson Q
- Gider Pierre
- Gieger Christian
- Gillebert TC
- Glazer N
- Glazer NL
- Glazer NL
- Glazer NL
- Glazer Nicole L.
- Go A
- Goel Anuj
- Goodall AH
- Gottdiener JS
- Gottdiener JS
- Gracey J
- Grammer TB
- Gray E
- Greiser KH
- Gretarsdottir S
- Groop Leif
- Grosshennig A
- Grosshennig A
- Gudnason V
- Gudnason V
- Gudnason V
- Gudnason Vilmundur
- Guiducci C
- Gulcher JR
- Gulde S
- Guo Xiuqing
- Gwilliams R
- Gyllensten U
- Gyllensten Ulf B.
- Hadley David
- Haerting J
- Hakonarson HH
- Hall A
- Hall AS
- Haller Toomas
- Halperin E
- Halperin E
- Hamburg NM
- Hamsten Anders
- Han X
- Haritunians T
- Haritunians T
- Haritunians T
- Harris T
- Harris TB
- Harris TB
- Harris Tamara B.
- Hastie N
- Hayward C
- Hayward Caroline
- Heath Simon
- Heckbert S
- Heckbert SR
- Heckbert SR
- Hedblad B
- Heid IM
- Heimerl S
- Hengstenberg C
- Hengstenberg C
- Hengstenberg C
- Hengstenberg C
- Henneman Peter
- Hepkema BG
- Hercberg Serge
- Hernandez Dena
- Hernandez-Fuentes M
- Herrington DM
- Hlatky M
- Hoen Peter A. C. T.
- Hoffmann MM
- Hofman A
- Hofman A
- Hofman A
- Hofman A
- Hofman A
- Hofman Albert
- Holm H
- Holm H
- Holm Hilma
- Homan van der Heide JJ
- Homuth G
- Hopewell Jemma C.
- Hottenga Jouke-Jan
- Howard TD
- Hu FB
- Hung Joseph
- Hwang SJ
- Hwang Shih-Jen
- Hypponen E
- Igl W
- Igl Wilmar
- Illig T
- Illig T
- Imboden M
- Ingelsson E
- Iribarren C
- Isaacs A
- Isaacs A
- Jackson Anne U.
- Janssens A Cecile J. W.
- Jarinova O
- Jarvelin MR
- Jarvelin Marjo-Riitta
- Jewell E
- Johansson A
- Johnson AD
- Johnson AD
- Johnson T
- Johnson Andrew D.
- Johnson Toby
- Jolley J
- Jukema J Wouter
- Kao WH
- Kardia SL
- Kathiresan S
- Kathiresan S
- Kathiresan S
- Kathiresan S
- Kathiresan S
- Kedenko L
- Keis Aime
- Kent KM
- Ketkar S
- Khaw Kay-Tee
- Kleber M
- Kleefstra N
- Klopp N
- Klopp N
- Knouff CW
- Knowles J
- Koenig W
- Kolcic I
- Kollerits B
- Kong A
- Kooner JS.
- Kooner Jaspal S.
- Kovacs P
- Krishnan U
- Kroemer HK
- Kroemer HK
- Kroemer Heyo K.
- Kronenberg F
- Krämer BK
- Kullo I
- Kundu Suman
- Kähönen Mika
- König IR
- König IR
- König IR
- König IR
- König IR
- König IR
- König Inke R.
- Köttgen A
- Kühnel Brigitte
- Laaksonen R
- Laaksonen R
- Laan Maris
- Lackner K
- Lackner KJ
- Lagou V
- Laitinen Jaana
- Lakatta EG
- Lapsley M
- Larson MG
- Larson MG
- Larson Martin G.
- Lathrop Mark
- Launer LJ
- Launer LJ
- Launer Lenore
- Lawlor DA
- Leak TS
- Lehtimäki Terho
- Levy D
- Levy D
- Levy D
- Levy D
- Levy Daniel
- Li M
- Li M
- Li M
- Li Y
- Li Xinzhong
- Lieb W
- Lieb W
- Lieb W
- Lightstone L
- Lind L
- Lindeman Jan H.
- Lindsay JM
- Linsel-Nitschke P
- Linsel-Nitschke P
- Linsel-Nitschke P
- Liu Y
- Liu Y
- Lloyd-Jones H
- Loehr LR
- Lohman K
- Loitfelder Marisa
- Loley C
- Loos RJ
- Loos Ruth J. F.
- Lopez Lorna M.
- Lord GM
- Lu Xiaowen
- Luan J
- Luan Jian'An
- Lucas Gavin
- Lugauer I
- Lumley T
- Lumley T
- Lumley T
- Lumley T
- Lundmark P
- Luttropp K
- Mangino Massimo
- Maouche S
- Marciante K
- Maréchal C
- Masciullo Corrado
- Mattace-Raso FU
- Mattace-Raso Francesco U. S.
- Matthai W
- Maxwell PH
- McArdle PF
- McArdle Wendy L.
- McCarthy MI
- McPherson R
- McPherson R
- McPherson R
- Medack A
- Meinitzer A
- Meisinger C
- Meisinger C
- Meitinger T
- Meitinger T
- Meitinger Thomas
- Melander O
- Melander O
- Melander Olle
- Meneton Pierre
- Metspalu Andres
- Metter J
- Milaneschi Yuri
- Minelli C
- Mitchell BD
- Mitchell GF
- Mitchell GF
- Mitchell Gary F.
- Moore JS
- Mooser V
- Mooser V
- Mooser Vincent
- Morrison A
- Morrison AC
- Morrison Alanna C.
- Muir D
- Munroe PB
- Munroe Patricia B.
- Munzel TF
- Munzel TF
- Murabito J
- Murray E
- Musk A William
- Musunuru K
- Musunuru K
- Myers R
- Mägi R
- März W
- Münzel T
- Nahrstedt J
- Najjar SS
- Najjar Samer S.
- Nauck M
- Navarro Pau
- Navis G
- Nelson CP
- Nelson CP
- Nelson Christopher P.
- Neudert J
- Newhouse SJ
- Newman AB
- Newton-Cheh Christopher
- Niblett D
- Nicaud V
- Nitsch D
- Nolte Ilja M.
- Nordfors L
- O' Donnell CJ
- O'Connell JR
- O'Donnell CJ
- O'Donnell CJ
- O'Donnell CJ
- O'Donnell Christopher J
- O'Leary K
- O'Reilly Paul F.
- O'Shaughnessy KM
- Olden M
- Ongen Halit
- Oostra BA
- Oostra BA
- Oostra Ben A.
- Org Elin
- Orru Marco
- Ouwehand WH
- Palmas Walter
- Palmer Lyle J.
- Parker AN
- Parker Alex N.
- Parsa A
- Parsa A
- Parsa A
- Paré G
- Pattaro C
- Paulweber B
- Peden John F.
- Peltonen L
- Peltonen L
- Penninx BW
- Penninx Brenda W.
- Perret C
- Perucha E
- Peters A
- Pfeufer Arne
- Pichard AD
- Pichler Irene
- Pihur Vasyl
- Pilz S
- Pirastu Nicola
- Pistis Giorgio
- Plump Andrew
- Polasek O
- Polašek Ozren
- Pollard H
- Post WS
- Pouta A
- Pouta Anneli
- Pramstaller PP
- Preuss M
- Preuss M
- Preuss M
- Preuss Michael
- Probst-Hensch NM
- Prokopenko I
- Prokopenko I
- Proust C
- Province M
- Psaty BM
- Psaty BM
- Psaty BM
- Psaty BM
- Psaty Bruce M.
- Qu L
- Quertermous T
- Rader DJ
- Raitakari Olli T.
- Ramachandran V
- Rampersaud E
- Rankin A
- Rao Dabeeru C.
- Redfield MM
- Reffelmann T
- Reilly MP
- Reilly MP
- Reilly MP
- Reilly MP
- Renner W
- Rettig R
- Rettig Rainer
- Rice CM
- Rice K
- Rice K
- Rice KM
- Rice Kenneth M.
- Ridker PM
- Ridker Paul M.
- Rietzschel ER
- Risch N
- Rivadeneira F
- Rivadeneira F
- Rivadeneira F
- Rivadeneira F
- Rivadeneira Fernando
- Roberts R
- Roberts R
- Rochat T
- Rodeheffer RJ
- Roderick PJ
- Rosamond WD
- Rose Lynda M.
- Rotter JI
- Rotter JI
- Rotter JI
- Rudan I
- Rudan Igor
- Ruokonen A
- Rupprecht HJ
- Sager H
- Sala Cinzia
- Salomaa V
- Salomaa Veikko
- Samani NJ
- Samani NJ
- Samani NJ
- Samani NJ
- Samani NJ
- Samani NJ
- Samani Nilesh J.
- Sambrook J
- Sanna S
- Sanna S
- Satler L
- Schalling M
- Scharnagl H
- Schillert A
- Schillert A
- Schillert A
- Schillert A
- Schlessinger D
- Schlieper G
- Schmidt H
- Schmidt H
- Schmidt R
- Schmidt R
- Schmidt Helena
- Schmidt Reinhold
- Schmitz G
- Schnabel R
- Schnabel RB
- Schnabel RB
- Scholz M
- Schreiber S
- Schreiber S
- Schroeder L
- Schunkert H
- Schunkert H
- Schunkert H
- Schunkert H
- Schunkert H
- Schunkert H
- Schunkert H
- Schut AF
- Schwartz SM
- Scott J
- Scott James
- Scuteri A
- Seelen MA
- Segers P
- Sehmi JS
- Shi Gang
- Shin So-Youn
- Shlipak MG
- Shuldiner AR
- Shuldiner AR
- Shuldiner AR
- Sidney S
- Sie MP
- Sigurdsson S
- Sijbrands EJ
- Sijbrands Eric J. G.
- Singleton A
- Singleton Andrew
- Sinning C
- Siscovick D
- Siscovick DS
- Siscovick DS
- Siscovick David
- Sjögren M
- Smit JH
- Smith A
- Smith AV
- Smith AV
- Smith N
- Smith NL
- Smith NL
- Smith Albert V.
- Smith Nicholas L.
- Snieder H
- Snieder Harold
- Soranzo N
- Soranzo Nicole
- Spector TD
- Spector Tim D.
- Stark K
- Stark K
- Starr John M.
- Stefansson K
- Stefansson Kari
- Stenvinkel P
- Sternberg MJ
- Stewart AF
- Stewart AF
- Stojakovic T
- Stolk Ronald P.
- Stott David
- Strachan David P.
- Stricker BH
- Stricker BH
- Stritzke J
- Struchalin M
- Struchalin M
- Stumvoll M
- Sutton-Tyrrell KC
- Swaminathan R
- Syvannen AC
- Sõber Siim
- Tammesoo Mari-Liis
- Tanaka T
- Tanaka T
- Tanaka T
- Tanaka Toshiko
- Tang H
- Tarasov KV
- Taylor KD
- Taylor Kent D.
- Teumer A
- Teumer A
- Thompson JR
- Thompson JR
- Thompson JR
- Thorgeirsson G
- Thorleifsson G
- Thorleifsson G
- Thorleifsson Gudmar
- Thorsteinsdottir U
- Thorsteinsdottir U
- Thorsteinsdottir Unnur
- Tiret L
- Tobin Martin D.
- Tomaschitz A
- Toniolo Daniela
- Trompet Stella
- Tuomilehto Jaakko
- Turner ST
- Tönjes A
- Ubink-Veltmaat LJ
- Uda M
- Uda M
- Uda Manuela
- Uitterlinden A
- Uitterlinden AG
- Uitterlinden AG
- Uitterlinden AG
- Uitterlinden AG
- Uitterlinden Andre G.
- Ulivi Sheila
- Van Bortel L
- van der Harst P
- Van Der Klauw Melanie M.
- Van Dijk Ko Willems
- Van Duijn
- van Duijn C
- van Duijn CM
- van Duijn CM
- van Duijn CM
- van Duijn CM
- van Rijn MJ
- Vasan RS
- Vasan RS
- Vasan RS
- Vasan Ramachandran S.
- Verwoert GC
- Verwoert Germaine C.
- Viikari Jorma
- Vita JA
- Vitart V
- Vitart Veronique
- Voight BF
- Voight BF
- Voight Benjamin F
- Volcik K
- Vollenweider P
- Vollenweider Peter
- Völker U
- Völker U
- Völker Uwe
- Völzke H
- Völzke H
- Völzke Henry
- Waeber G
- Waeber Gérard
- Wagner AK
- Wain Louise V.
- Waksman R
- Walker MC
- Wallace C
- Wallace C
- Wang TJ
- Wang TJ
- Wang W
- Wang Thomas J.
- Wareham NJ
- Wareham Nicholas J.
- Wass MN
- Waterworth D
- Waterworth DM
- Watkins Hugh
- Watzinger N
- Webster Rebecca J.
- Wells GA
- Wells GA
- Werdan K
- Whitteman J
- Wichmann HE
- Wichmann HE
- Wichmann HE
- Wichmann HE
- Wichmann H-Erich
- Wild P
- Wild PS
- Wild PS
- Wild SH
- Wild Sarah H.
- Wilde S
- Wilensky R
- Wilkinson IB
- Willemsen Gonneke
- Willenborg C
- Willerson JT
- Wilson JF
- Wilson James F.
- Winkelmann BR
- Winkler K
- Witteman JC
- Witteman JC
- Witteman JC
- Witteman JC
- Witteman Jacqueline C. M.
- Wright AF
- Wright BJ
- Wright Alan F.
- Yang Q
- Yang YA
- Yasmin
- Zaboli G
- Zeginigg Marion
- Zeller T
- Zeller T
- Zeller T
- Zemunik T
- Zerres K
- Zgaga L
- Zhang W
- Zhang Feng
- Zhang Weihua
- Zhao Jing Hua
- Ziegler A
- Ziegler A
- Ziegler A
- Ziegler A
- Ziegler A
- Ziegler A
- Zillikens MC
- Zitting Paavo
- Zweiker R
- Publication venue
- Nat Genet
- Publication date
- 01/01/2011
- Field of study
Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP
Genetic mechanisms of critical illness in COVID-19.
- Author
- A A Roger Thompson
- A Abraheem
- A Agasou
- A Ahmed
- A Ali
- A Allan
- A Altabaibeh
- A Alvaro
- A Aspinwall
- A Ayers
- A Bamford
- A Barron
- A Bashyal
- A Bellini
- A Bociek
- A Botello
- A Bowes
- A Brady
- A Brayne
- A Brown
- A Brown
- A Butler
- A Campbell
- A Carter
- A Collins
- A Cowley
- A Cowton
- A Cowton
- A Cox
- A Crew
- A Dance
- A Daniel
- A Daniels
- A Dela Rosa
- A Drummond
- A Durie
- A E Heron
- A Easthope
- A Easthope
- A Evans
- A Fofano
- A Gales
- A Ganesan
- A Gardner
- A Garg
- A Gherman
- A Gordon
- A Gratrix
- A Gulati
- A Gupta
- A Haigh
- A Haldeos
- A Harrison
- A Harvey
- A Hayes
- A Higham
- A Higham
- A Hilldrith
- A Holden
- A Hormis
- A Hutcheon
- A Javaid
- A Joseph
- A Kaliappan
- A Katary
- A Kay
- A Kayani
- A Kent
- A Kirkby
- A Knight
- A Kubisz-Pudelko
- A Kuravi
- A Lewis
- A Loveridge
- A Lyle
- A Mayer
- A McAlpine
- A McCarthy
- A McGregor
- A McGregor
- A Meikle
- A Mitchell
- A Mitra
- A Morris
- A Morrison
- A Naranjo
- A Nicholson
- A Nicholson
- A Nilsson
- A Noakes
- A Patel
- A Pickard
- A Poole
- A Price
- A Puxty
- A Quinn
- A Quinn
- A Raithatha
- A Rattray
- A Reddy
- A Reed
- A Reyes
- A Rose
- A Rose
- A Rostron
- A Roy
- A Roynon-Reed
- A S Raj
- A Salberg
- A Sanderson
- A Serrano-Ruiz
- A Solesbury
- A Sukha
- A Swain
- A Tariq
- A Thomas
- A Thomas
- A Todd
- A Tomas
- A Tridente
- A Tucci
- A Turnbull
- A Uriel
- A Ustianowski
- A Vochin
- A Vuylsteke
- A Waite
- A Walden
- A Whileman
- A Wilkinson
- A Williams
- A Williams
- A Wilson
- A Zak
- A Zaki
- Achille Iolascon
- Adam Auton
- Adam Brown
- Agnese Verzuri
- Agostino Ognibene
- Agostino Riva
- Ailsa Golightly
- Alan Maclean
- Alessandra
- Alessandra Stella
- Alessandra Vergori
- Alessia Giorli
- Alexander J Mentzer
- Alice Donati
- Alison M Meynert
- Alistair Nichol
- Ana da Silva Filipe
- Andrea Antinori
- Andrea Cossarizza
- Andrea Ganna
- Andrea Tommasi
- Andrew Rambaut
- Andrew Stenhouse
- Andy Law
- Anjali J Shastri
- Anna Canaccini
- Anna Maria Pinto
- Annarita Giliberti
- Annemarie B Docherty
- Antonella D'Arminio Monforte
- Antonia Ying Wai Ho
- Antonio Di Biagio
- Antony Symons
- Arianna Emiliozzi
- Arianna Gabrieli
- Audrey Coutts
- B Anwar
- B Attwood
- B Baines
- B Blackledge
- B Borislavova
- B Chandler
- B Charles
- B Creagh-Brown
- B David
- B Deacon
- B Deacon
- B Digby
- B Faulkner
- B Fuller
- B Gumbrill
- B Gurung
- B Hadebe
- B Hairsine
- B Hopkins
- B Johnston
- B Lenagh
- B Masunda
- B Ogg
- B Patel
- B Player
- B Purewal
- B Scholefield
- B Shelley
- B Sloan
- B Thomas
- B Wadams
- B Welsh
- B Wilkinson
- B Winter-Goodwin
- B Yates
- Baillie J Kenneth
- Barbara Rossetti
- Beale Rupert
- Beatrice Alex
- Benjamin Bach
- Bretherick Andrew D
- Bruno Frediani
- C Adams
- C Ahmed
- C Almaden-Boyle
- C Ashbrook-Raby
- C Basikolo
- C Battle
- C Beazley
- C Beith
- C Borra
- C Brandwood
- C Brantwood
- C Burnett
- C Castro Delgado
- C Clark
- C Clulow
- C Collins
- C Cruz
- C Davis
- C Demetriou
- C Dennis
- C Dexter
- C Downes
- C Dunmore
- C Eastgate
- C Eckbad
- C Finch
- C Gibson
- C Gorman
- C Hays
- C Hewitt
- C Holl
- C Howcroft
- C Humphrey
- C Jackson
- C Jardine
- C Jennings
- C Jones
- C Kaye
- C Lynch
- C Lyons
- C McCulloch
- C McParland
- C McParland
- C Murphy
- C Parmar
- C Pawley
- C Phillips
- C Phillips
- C Pothecary
- C Pothecary
- C Prendergast
- C Price
- C Rishton
- C Sell
- C Shovelton
- C Sicat
- C Stuart
- C Summers
- C Swan
- C Thompson
- C Thorpe
- C Tibke
- C Tierney
- C Vigurs
- C Wells
- C Whitton
- C Whyte
- C Wrey Brown
- Cameron J Fairfield
- Carmelo Piscopo
- Carmen Marciano
- Caroline Abernathy
- Carrol Gamble
- Caterina Lo Rizzo
- Catherine A Shaw
- Catherine H Weldon
- Caulfield Mark
- Ceilia Boz
- Cesira Nencioni
- Chelsea Ye
- Chiara Fallerini
- Chiara Gabbi
- Chiara Spertilli
- Chloe Donohue
- Chris Ponting
- Christoper A Green
- Cinthia E Jannes
- Clare Jackson
- Clohisey Sara
- Cristina Mussini
- D Antcliffe
- D Bakthavatsalam
- D Banach
- D Baptista
- D Bell
- D Branney
- D Brealey
- D Brealey
- D Butcher
- D Butcher
- D Childs
- D Clarke
- D Collier
- D Collier
- D Cristiano
- D Dawson
- D Donaldson
- D Duffin
- D Fottrell-Gould
- D Golden
- D Griffin
- D Hamilton
- D Hawcutt
- D Hope
- D Horner
- D Kallon
- D Kaye
- D Kelly
- D Loader
- D Lomas
- D Martin
- D McGlynn
- D McLaughlanv
- D Melia
- D Menzies
- D Mullan
- D Pogson
- D Potla
- D Potoczna
- D Purohit
- D Raynard
- D Salutous
- D Salutous
- D Scaletta
- D Shaw
- D Skinner
- D Smyth
- D Strachan
- D Tetla
- D Thornton
- D Trodd
- D Vedage
- D Walker
- D Warren
- D Williams
- D Wood
- D Wright
- Daniela Francisci
- Daniella Coker
- Danilo Tacconi
- David A van Heel
- David Bennet
- David L Robertson
- David Stuart
- Dawn Law
- Debby Bogaert
- Derek Murphy
- Domenico A Coviello
- E Abaleke
- E Allan
- E Anastasescu
- E Andrews
- E Apetri
- E B Jude
- E Beech
- E Beranova
- E Bevan
- E Black
- E Brinkworth
- E Collins
- E Combes
- E Davies
- E Dobson
- E Dooks
- E Fisher
- E Gendall
- E Goff
- E Goodwin
- E Gordon
- E Heeney
- E Horsley
- E Hughes
- E Johnson
- E Knights
- E Lee
- E London
- E Maccacari
- E Massey
- E McKenna
- E Meadows
- E Moncur
- E Morino
- E Mwaura
- E Peasgood
- E Perkins
- E Radford
- E Raith
- E Raith
- E Salciute
- E Smith
- E Smithson
- E Stoddard
- E Stones
- E Thomas
- E Tilney
- E Timlick
- E Treus Gude
- E Virgilio
- E Watson
- E Wilby
- Edoardo Conticini
- Egle Saviciute
- Elena Bargagli
- Elena Desanctis
- Elisa Benetti
- Elisa Frullanti
- Elisabetta Menatti
- Elisabetta Schiaroli
- Ellie Mcmaster
- Emma C Thomson
- Emmanuelle Marques
- Enrico Martinelli
- Esther Duncan
- Esther Merlini
- Ewen M Harrison
- F Anderson
- F Auld
- F Bibi
- F Davies
- F Farquhar
- F Fisher
- F Hurford
- F Kibutu
- F McNeela
- F Moore
- F Nasir
- F Trim
- F Wakinshaw
- F Williams
- Fabio Lena
- Fawkes Angie
- Federico Anedda
- Federico Franchi
- Ferdinando Giannattasio
- Filip Taneski
- Filippo Aucella
- Filippo Biscarini
- Floriana Valentino
- Fourman Max Head
- Francesca Andretta
- Francesca Fava
- Francesca Gatti
- Francesca Mari
- Francesca Montagnani
- Francesco Castelli
- Francesco Raimondi
- Furniss James
- G Andrew
- G Arbane
- G Bell
- G Bercades
- G Croston
- G Debreceni
- G Durrant
- G Hambrook
- G Hobden
- G Houston
- G Hughes
- G Jones
- G Lubimbi
- G Maloney
- G Martir
- G Millen
- G Mills
- G O'Connor
- G Padden
- G Randell
- G Sadera
- G Seddon
- G Sera Howe
- G Sloane
- G Subramanian
- G Tsinaslanidis
- G Turner
- G Watson
- G Wray
- Gabriella Coiro
- Gabriella Doddato
- Gail Carson
- Gardar Sveinbjornsson
- Gary Leeming
- Genni Spargi
- Georgios Pollakis
- Giacomo Zanelli
- Gian Piero Caldarelli
- Giancarlo Bosio
- Giuseppe Fiorentino
- Giuseppe Merla
- Gountouna Elvina
- Graham S Cooke
- Griffiths Fiona
- Grimes Graeme
- H Bancroft
- H Bates
- H Belfield
- H Blackman
- H Blakemore
- H Brooke
- H Button
- H Coles
- H Curgenven
- H Filipe
- H Fox
- H Golding
- H Hill
- H Holcombe
- H Houlden
- H Jeffrey
- H Kent
- H Langton
- H McGuinness
- H Meghari
- H Millward
- H Moore
- H Parker
- H Pearson
- H Prady
- H Quinn
- H Rangarajan
- H Rehman
- H Reschreiter
- H Riley
- H Sainsbury
- H Savill
- H Sturgeon
- H T-Michael
- H Tench
- H Tiveran
- H Turner
- H Whittle
- H Willis
- H Wood
- Haley Chris
- Hanning Mal
- Harrison David
- Hayley Hardwick
- Hayward Caroline
- Helen Szoor-McElhinney
- Hinds Charles
- Ho Antonia
- Horby Peter
- I Ali Mohamed Ali
- I Balagosa
- I Birkinshaw
- I Burn
- I Chadbourn
- I D Clement
- I Edmond
- I Frost
- I Hass
- I Hussain
- I Lancoma-Malcolm
- I Leadbitter
- I Nagra
- I Otahal
- I Otahal
- I Turner-Bone
- I Welters
- I White
- I Wynter
- Ilaria Meloni
- Immacolata Andolfo
- Isabella Zanella
- J Allan
- J Barker
- J Bewley
- J Biddle
- J Birch
- J Birch
- J Bradley-Potts
- J Brown
- J Bryant
- J Butler
- J Camsooksai
- J Carter
- J Caterson
- J Cebrian Suarez
- J Cockerill-Taylor
- J Cole
- J Colley
- J Cooper
- J Cupitt
- J Cuttler
- J Daglish
- J Dasgin
- J Dawson
- J Dearden
- J Deery
- J Donnachie
- J Dykes
- J Easton
- J Egan
- J Fernandez Roman
- J Finn
- J Fletcher
- J Frankham
- J Gaylard
- J Gill
- J Godden
- J Goodsell
- J Gregory
- J Greig
- J Gurasashvili
- J Hardy
- J Harris
- J Hatton
- J Hawes
- J Highgate
- J Hornsby
- J Hulme
- J Hunt
- J Hutter
- J Ingham
- J Jones
- J Jones
- J K Baillie
- J Kassam
- J Kenneth Baillie
- J Kenneth Baillie
- J Keshet-Price
- J Liew
- J Little
- J Mallinson
- J Martin
- J Matthews
- J McCormick
- J Medhora
- J Melville
- J Moreno Cuesta
- J Morgan
- J Naisbitt
- J Norris
- J North
- J Parkin
- J Pendlebury
- J Perez
- J Perry
- J Pheby
- J Philbin
- J Pinnell
- J Queiroz
- J Radhakrishnan
- J Reid
- J Rhodes
- J Riches
- J Ritzema
- J Ruddy
- J Ryan-Smith
- J Scriven
- J Scriven
- J Scriven
- J Shiel
- J Singh
- J Singleton
- J Smith
- J Sowter
- J Strickley
- J Summers
- J Taylor
- J Tebbutt
- J Texeira
- J Thomas
- J Thrush
- J Tomlinson
- J Valentine
- J Whiteside
- J Wilkins
- J Willson
- J Zamikula
- Jake Dunning
- Jane Weaver
- Janet Harrison
- Janet T Scott
- Janie F Shelton
- Jen Meikle
- Jo Dalton
- Johnny Millar
- Jorge Esparza-Gordillo
- Jose E Krieger
- Julian A Hiscox
- K Archer
- K Austin
- K Baines
- K Bauchmuller
- K Beaumont
- K Beesley
- K Black
- K Burns
- K Burt
- K Cawley
- K Cawthron
- K Connolly
- K Convery
- K Criste
- K Dale
- K Darlington
- K Davies
- K Dent
- K Douglas
- K Duffy
- K Elliott
- K Elston
- K English
- K Fernandes
- K Fletcher
- K Gilbert
- K Golder
- K Hammerton
- K Hanson
- K Hanson
- K Hard
- K Harrington
- K Hayes
- K Holding
- K Holdroyd
- K Howard
- K Hugill
- K Inweregbu
- K Jackson-Lawrence
- K Karthik
- K King
- K Knowles
- K Lang
- K Liyanage
- K Manso
- K Netherton
- K Postlethwaite
- K Potts
- K Prager
- K Praman
- K Priestley
- K Pritchard
- K Puxty
- K Reid
- K Riches
- K Rooney
- K Sellick
- K Shuker
- K Simpson
- K Simpson
- K Slevin
- K Smith
- K Sollesta
- K Stammers
- K Stroud
- K Sweet
- K Tatham
- K Turner
- K Webster
- K White
- K Williams
- K Xavier
- Katarzyna Hafezi
- Keating Sean
- Kenneth A Mclean
- Kirstie Morrice
- Klaric Lucija
- Klenerman Paul
- Knight Julian
- Kousathanas Athanasios
- L Abel
- L Akeroyd
- L Allen
- L Armstrong
- L Barclay
- L Benham
- L Botfield
- L Bough
- L Brimfield
- L Bunni
- L Cabrelli
- L Cagova
- L Catlow
- L Ding
- L Ferguson
- L Folkes
- L Foster
- L Garner
- L Gemmell
- L George
- L Glass
- L Glass
- L Gledhill
- L Grauslyte
- L Grimmer
- L Gurr
- L Harrison
- L Hodgson
- L Hudig
- L Keating
- L Kittridge
- L Lankester
- L Lennon
- L Lim
- L Ma
- L Marshall
- L Matupe
- L McMorrow
- L McQuillan
- L Mew
- L Mostoles
- L Mwaura
- L Newey
- L O'Brien
- L O'Malley
- L O'Neill
- L Ortiz-Ruiz de Gordoa
- L Ortiz-Ruiz de Gordoa
- L Park
- L Pippard
- L Prentice
- L Rad
- L Ramos
- L Riddles
- L Roche
- L Roche
- L Rooney
- L Rosaroso
- L Shaw
- L Smith
- L Stevenson
- L Symon
- L Thomis
- L Thornton
- L Thrasyvoulou
- L Ting
- L Tonks
- L Turner
- L van Koutrik
- L Wilcox
- L Wild
- L Wilding
- L Woods
- L Wren
- L Zitter
- Lance C W Turtle
- Laura Bergantini
- Laura Di Sarno
- Laura Marsh
- Laura Merson
- Law Andrew
- Leonardo Croci
- Lia Crotti
- Ling Lowell
- Lisa Norman
- Lorenzo Salerni
- Lorna Donnelly
- Louise Cullum
- Louise Macgillivray
- Louise Sigfrid
- Luca Cantarini
- Luca Guidelli
- Luca Masucci
- Luisa Tavecchia
- M Abdelrazik
- M Al-Moasseb
- M Balasubramaniam
- M Bates
- M Bellamy
- M Birt
- M Blunt
- M Bokhari
- M Bolton
- M Brady
- M Breekes
- M Brett
- M Bromley
- M Bruce
- M Brunton
- M Burton
- M Callaghan
- M Carmody
- M Carnahan
- M Casey
- M Caswell
- M Chablani
- M Clapham
- M Clark
- M Clark
- M Coulding
- M Croft
- M Cunningham
- M Davey
- M Davies
- M Davies
- M Edward
- M Elhassan
- M Elsaadany
- M Faulkner
- M Forsey
- M Frise
- M Gellamucho
- M Gill
- M Gummadi
- M Halkes
- M Harkins
- M Hill
- M Hobrok
- M Holland
- M Home
- M Hussain
- M Jackson
- M K Phull
- M Kent
- M Khan
- M Latif
- M Leigh
- M Lopez Martinez
- M Lyons
- M MacMahon
- M Male
- M Marani
- M Margarson
- M Marotti
- M Matharu
- M McLaughlin
- M McPhail
- M Meredith
- M Mpelembue
- M Msiska
- M Mulcahy
- M Mupudzi
- M Nauman Akhtar
- M Newton
- M Oblak
- M Odam
- M Ostermann
- M Patel
- M Peiu
- M Penacerrada
- M Peters
- M Popescu
- M Poulaka
- M Purewal
- M Raj
- M Robinson
- M Sangombe
- M Shankar-Hari
- M Sim
- M Slaughter
- M Smith
- M Smith
- M Spivey
- M T Hijazi
- M Taylor
- M Taylor
- M Taylor
- M Taylor
- M Taylor
- M Templeton
- M Thankachen
- M Thirumaran
- M Thomas
- M Tolson
- M Usher
- M Varghese
- M Verlander
- M Vertue
- M Watters
- M White
- M Wiles
- M Williams
- M Wills
- M Woodruff
- M Young
- Maaike Swets
- Mahdad Noursadeghi
- Manu Shankar-Hari
- Marco Castori
- Marco Feri
- Marco Gori
- Marco Mandalà
- Marco Sita
- Margherita Baldassarri
- Mari E K Niemi
- Mari Ward
- Maria Antonietta Mazzei
- Maria Antonietta Mencarelli
- Maria Bandini
- Maria Eugenia Quiros-Roldan
- Maria Palmieri
- Maria Zambon
- Marie Connor
- Mario Capasso
- Mario U Mondelli
- Marta Corridi
- Maslove David
- Massimiliano Fabbiani
- Massimo Carella
- Massimo Girardis
- Massimo Palmarini
- Massimo Vaghi
- Matteo Bassetti
- Matteo Della Monica
- Matteo Siano
- Mattia Cordioli
- Maurizio Sanarico
- Maurizio Sanguinetti
- Maurizio Spagnesi
- McAuley Danny
- Meera Chand
- Meynert Alison
- Michelle Girvan
- Millar Jonathan
- Mirella Bruttini
- Miriana D'Alessandro
- Montgomery Hugh
- Moore Shona C
- Moutsianas Loukas
- Murphy Lee
- Murray Wham
- N Ahmad
- N Bandla
- N Baxter
- N Boyle
- N Capps
- N Clarke
- N Crisp
- N Davidson
- N Dormand
- N Grau
- N Harris
- N Jacques
- N Keenan
- N Lancaster
- N Love
- N MacCallum
- N Michalak-Glinska
- N Motherwell
- N Muchenje
- N Nikitas
- N Pathan
- N Pattison
- N Proudfoot
- N Rea
- N Richardson
- N Rodden
- N Roe
- N Rogers
- N Runciman
- N Schumacher
- N Schunki
- N Slawson
- N Staines
- N Thomson
- N Truman
- N White
- Nichol Alistair
- Nicholas Parkinson
- Nicholas Price
- Nicky Day
- Nicola Picchiotti
- O Adanini
- O Akinkugbe
- O Ezeobu
- O Jones
- O Kelsall
- O Mercer
- O Mitchelmore
- O Olufuwa
- O Prysyazhna
- O Zongo
- Oosthuyzen Wilna
- Openshaw Peter J M
- P Alexander
- P Anderson
- P Bamford
- P Barry
- P Boyle
- P Clark
- P Coghlan
- P Doble
- P Donnison
- P Ebano
- P Gondo
- P Grant
- P Harding
- P Henderson
- P Hutton
- P Jackson
- P MacGoey
- P May
- P McConnell
- P Mercer
- P O'Brien
- P O'Neil
- P Parkinson
- P Parsons
- P Paul
- P Polgarova
- P Ranga
- P Rice
- P Rogers
- P Saunderson
- P Shanmugasundaram
- P Springle
- P Szedlak
- P Turner
- P Williams
- Pairo-Castineira Erola
- Pamela Raggi
- Paola Magro
- Paolo Cameli
- Paolo Piacentini
- Parkinson Nick
- Pasko Dorota
- Patrick Sulem
- Patrizia Zucchi
- Paul Finernan
- Paul Klenerman
- Pereira Alexandre C
- Peter W Horby
- Pier Giorgio Scotton
- Pierpaolo Parravicini
- Pietro Pinoli
- Ponting Chris P
- Porteous David J
- R Astin-Chamberlain
- R Barber
- R Baruah
- R Bi
- R Bolton
- R Bowles
- R Boyle
- R Bradley
- R Campbell
- R Campbell
- R Chan
- R Charlesworth
- R Clark
- R Crawley
- R Crowe
- R Cusack
- R Davies
- R Doonan
- R Flanagan
- R Gascoyne
- R Girach
- R Gomez
- R Griffiths
- R Hall
- R Hamill
- R Haq
- R Harford
- R Harper
- R Herdman-Grant
- R Howle
- R Jacob
- R Jha
- R Johnson
- R Jones
- R Joy
- R Kanu
- R Kapoor
- R Kausar
- R Khade
- R Kitson
- R Kumar
- R Lean
- R Lim
- R Loosley
- R Lorusso
- R M Genetu
- R Marshall
- R O'Leary
- R Paramsothy
- R Parker
- R Partridge
- R Penn
- R Pepermans Saluzzio
- R Pollard
- R Price
- R Prout
- R Pugh
- R Raobaikady
- R Reece-Anthony
- R Rikunenko
- R Rojo
- R Saha
- R Sandhu
- R Shaw
- R Shokkar
- R Simms
- R Stead
- R Stewart
- R Sundaram
- R Tully
- R Tutton
- R Vincent
- R Walker
- R Wilcox
- R Wolf-Roberts
- R Worner
- R Wulandari
- Rachel Law
- Raffaele Scala
- Rawlik Konrad
- Renieri
- Renzo Scaggiante
- Richard Clark
- Richard S Tedder
- Richmond Anne
- Riinu Pius
- Rita Perna
- Roberta Russo
- Ross Hendry
- Rossella Tita
- Rowan Kathy
- Russell Clark D
- Ruth Armstrong
- Ruth Lyons
- Ryan S Thwaites
- S Agrawal
- S Allen
- S Allibone
- S Anderson
- S Archer
- S Bano
- S Bean
- S Beavis
- S Bell
- S Bennett
- S Benyon
- S Bird
- S Blowes
- S Board
- S Bonner
- S Brett
- S Buckley
- S Campos
- S Cathcart
- S Chapman
- S Charlton
- S Cherian
- S Chukkambotla
- S Clamp
- S Clark
- S Clements
- S Coetzee
- S Cole
- S Cornell
- S Cutler
- S Dale
- S Donlon
- S Farnell-Ward
- S Fowler
- S Garrioch
- S Gibson
- S Gopal
- S Greer
- S Gurung Rai
- S Henderson
- S Hierons
- S Hope
- S Humphreys
- S Hussain
- S Jenkins
- S Jhanji
- S Jones
- S Jose
- S Joseph
- S Kaul
- S Keenan
- S Keith
- S Kennedy-Hay
- S Kimber
- S Kumar
- S Laha
- S Latham
- S Leaver
- S Lee
- S Leggett
- S MacFadyen
- S Manna
- S Marriott
- S Masuko
- S McIvor
- S McKechnie
- S Melling
- S Mellor
- S Mepham
- S Metherell
- S Mitchard
- S Mohamed Ally
- S Monnery
- S Moore
- S Morrison
- S Moultrie
- S Mtuwa
- S Mulla
- S Munt
- S Murdoch
- S O'Sullivan
- S Packham
- S Patch
- S Pearson
- S Pitts
- S Preston
- S Purvis
- S Quaid
- S Ray
- S Roche
- S Rose
- S Rundell
- S Salmi
- S Sathe
- S Selvanayagam
- S Shelton
- S Shepardson
- S Siddiqui
- S Smuts
- S Sousa Arias
- S Spencer
- S Srikaran
- S Stone
- S Swann
- S Tilbey
- S Turki
- S Turney
- S Twiss
- S Wadd
- S Whiteley
- S Williams
- S Wood
- S Yussuf
- Sabino Scolletta
- Samreen Ijaz
- Sandro Mancarella
- Sandro Panese
- Sara Amitrano
- Sara McDonald
- Sarah Law
- Sarah McCafferty
- Saverio Giuseppe Parisi
- Saye Khoo
- Scott Richard
- Semple Malcolm G
- Serafina Valente
- Serena Ludovisi
- Sergio Daga
- Seán Keating
- Shankar-Hari Manu
- Shen Xia
- Shih Barbara
- Shiranee Sriskandan
- Shona C Moore
- Silvia Cappelli
- Simona Marcantonio
- Simone Furini
- Sophie Halpin
- Sophie Venturelli
- Stefania Mantovani
- Stefano Baratti
- Stefano Ceri
- Stefano Rusconi
- Stella Aslibekyan
- Stephanie Roberts
- Stephen R Knight
- Summers Charlotte
- Susanna Croci
- Susanna Guerrini
- T Anderson
- T Arden
- T Baird
- T Behan
- T Bemand
- T Cosier
- T Coventry
- T Duncan
- T Felton
- T Geary
- T Hazleton
- T Joefield
- T Kannan
- T Lawton
- T Marsden
- T Martin
- T McHugh
- T Newman
- T Nortcliffe
- T O Jones
- T Pogreban
- T Rees
- T Samakomva
- T Smith
- T Smith
- T Szakmany
- T Varghes
- T Williams
- T Wood
- Tammy Gilchrist
- Tenesa Albert
- Teresa Filshtein-Sonmez
- Thomas M Drake
- Thushan de Silva
- Tim Walsh
- Tom Fletcher
- Tom Solomon
- Tony Wackett
- Trevor Paterson
- Tullio Trotta
- Turtle Lance
- U Poultney
- V Amin
- V Anumakonda
- V Bastion
- V Cannons
- V Crickmore
- V Gopal
- V Irvine
- V Kasipandian
- V Krishnamurthy
- V Lake
- V Linnett
- V Martinson
- V Nagarajan
- V Page
- V Parris
- V Parris
- V Pristopan
- V Ratnam
- V Rivers
- V Sarathy
- V Thomas
- V Thwaites
- V Tuckey
- V Turner
- V Wagstaff
- V Waugh
- Valentina Anemoli
- Vanessa Sancho-Shimizu
- Victoria Shaw
- Vitart Veronique
- W Harrison
- W Khaliq
- W Khaliq
- W McCormick
- W Woodyatt
- Walker Susan
- Walsh Timothy
- Wang Bo
- Wei Shen Lim
- Wendy S Barclay
- William A Paxton
- William Greenhalf
- Wilson James F
- Wrobel Nicola
- Wu Yang
- X Qiu
- Y Baird
- Y Choudhury
- Y Hussain
- Y Jackson
- Y Thirlwall
- Yang Jian
- Yang Zhijian
- Z Alldis
- Z Belagodu
- Z Bradshaw
- Z Coton
- Z Daly
- Z Farzad
- Z Fernandez
- Z Garland
- Z Maqsood
- Z Omar
- Z Prime
- Z Scott
- Zechner Marie
- Zhai Ranran
- Zheng Chenqing
- Publication venue
- Nature
- Publication date
- 01/01/2020
- Field of study
Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mechanistic targets for therapeutic development3. Here we report the results of the GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2,244 critically ill patients with COVID-19 from 208 UK intensive care units. We have identified and replicated the following new genome-wide significant associations: on chromosome 12q24.13 (rs10735079, P = 1.65 × 10-8) in a gene cluster that encodes antiviral restriction enzyme activators (OAS1, OAS2 and OAS3); on chromosome 19p13.2 (rs74956615, P = 2.3 × 10-8) near the gene that encodes tyrosine kinase 2 (TYK2); on chromosome 19p13.3 (rs2109069, P = 3.98 × 10-12) within the gene that encodes dipeptidyl peptidase 9 (DPP9); and on chromosome 21q22.1 (rs2236757, P = 4.99 × 10-8) in the interferon receptor gene IFNAR2. We identified potential targets for repurposing of licensed medications: using Mendelian randomization, we found evidence that low expression of IFNAR2, or high expression of TYK2, are associated with life-threatening disease; and transcriptome-wide association in lung tissue revealed that high expression of the monocyte-macrophage chemotactic receptor CCR2 is associated with severe COVID-19. Our results identify robust genetic signals relating to key host antiviral defence mechanisms and mediators of inflammatory organ damage in COVID-19. Both mechanisms may be amenable to targeted treatment with existing drugs. However, large-scale randomized clinical trials will be essential before any change to clinical practice
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
- Author
- Aarsland Dag
- Adeleye Adelani
- Al-Sarraj Safa
- Alba Camille
- Albert Marilyn S.
- Albert Marilyn S.
- Alcolea Daniel
- Alvarez Jerez Pilar
- Attems Johannes
- Bacikova Dagmar
- Baloh Robert H.
- Barrett Matthew J.
- Beach Thomas G.
- Beach Thomas G.
- Bekris Lynn M.
- Bennett David A.
- Bennett David A.
- Billingsley Kimberley
- Black Sandra E.
- Black Sandra E.
- Boeve Bradley F.
- Boeve Bradley F.
- Bowser Robert
- Brand Harrison
- Brett Francesca
- Brice Alexis
- Brice Alexis
- Broach James
- Calvo Andrea
- Calvo Andrea
- Camu William
- Canosa Antonio
- Chia Ruth
- Chio Adriano
- Chiò Adriano
- Chiò Adriano
- Clarimon Jordi
- Collins Ryan L.
- Cooper-Knock John
- D'Alfonso Sandra
- Dalgard Clifton L.
- Dalgard Clifton L.
- Dalgard Clifton L.
- Dawson Ted M.
- Dawson Ted M.
- De Jager Philip L.
- Dewan Ramita
- Dickson Dennis W.
- Dickson Dennis W.
- Ding Jinhui
- Drepper Carsten
- Drory Vivian E.
- Dunckley Travis L.
- Faber Kelley
- Feldman Eva
- Ferman Tanis
- Ferman Tanis
- Ferrucci Luigi
- Ferrucci Luigi
- Flanagan Margaret E.
- Foroud Tatiana M.
- Foroud Tatiana M.
- Fortea Juan
- Fratta Pietro
- Fujita Masashi
- Gan-Or Ziv
- Gentleman Steve
- Gerhard Glenn
- Ghetti Bernardino
- Ghetti Bernardino
- Gibbs J. Raphael
- Gibbs J. Raphael
- Gibson Summer B.
- Glass Jonathan D.
- Goate Alison
- Goldstein David S.
- Gonzalez-Aramburu Isabel
- Graff-Radford Neill R.
- Graff-Radford Neill R.
- Hardy John A.
- Hardy John A.
- Hardy John A.
- Harms Matthew B.
- Heiman-Patterson Terry D.
- Hodges Angela K.
- Hupalo Daniel N.
- Infante Jon
- Jansson Lilja
- Kaivola Karri
- Kaufmann Horacio
- Keith Julia
- Keith Julia
- Kirby Janine
- Krüger Rejko
- Kukull Walter A.
- Kwan Justin
- Laaksovirta Hannu
- Lage Carmen
- Landers John E.
- Landers John E.
- Landi Francesco
- Le Ber Isabelle
- Lesage Suzanne
- Leverenz James B.
- Lleó Alberto
- Logroscino Giancarlo
- Lopez Grisel
- Lott Nathaniel
- Love Seth
- Lumbroso Serge
- MacGowan Daniel J. L.
- Malik Laksh
- Mao Qinwen
- Maragakis Nicholas J.
- Masellis Mario
- Masellis Mario
- Masliah Eliezer
- May Patrick
- Mazzini Letizia
- McGrath Martinez Elisa
- McKeith Ian G.
- Menon Vilas
- Moglia Cristina
- Monuki Edwin
- Mora Gabriele
- Morris Christopher M.
- Morris Huw R.
- Morris Huw R.
- Mouzat Kevin
- Myllykangas Liisa
- Newell Kathy L.
- Orrell Richard W.
- Ostrow Lyle W.
- Palma Jose-Alberto
- Palmer Laura
- Pamphlett Roger
- Pastor Pau
- Perkins Matthew
- Pickering-Brown Stuart
- Pioro Erik
- Pletnikova Olga
- Pletnikova Olga
- Pollard Harvey B.
- Pulst Stefan M.
- Rasheed Memoona
- Ravits John M.
- Ray Anindita
- Renton Alan E.
- Resnick Susan M.
- Resnick Susan M.
- Robberecht Wim
- Rogaeva Ekaterina
- Rogaeva Ekaterina
- Rosenthal Liana S.
- Rosenthal Liana S.
- Ross Owen A.
- Ross Owen A.
- Rothstein Jeffrey D.
- Ryten Mina
- Ryten Mina
- Sanchez-Juan Pascual
- Scherzer Clemens R.
- Scholz Sonja W.
- Scholz Sonja W.
- Sendtner Michael
- Serrano Geidy E.
- Serrano Geidy E.
- Shakkottai Vikram G.
- Shaw Pamela J.
- Sidle Katie C.
- Sidransky Ellen
- Simmons Zachary
- Singh Jatinder
- Solaiman Sultana
- Soltis Anthony R.
- Stark Ali
- Stein Thor
- Stone David J.
- Sukumar Gauthaman
- Talkowski Michael
- Tanaka Toshiko
- Tanaka Toshiko
- Tayebi Nahid
- Thomas Alan J.
- Tienari Pentti
- Tienari Pentti J.
- Topol Eric
- Topol Eric
- Torkamani Ali
- Torkamani Ali
- Traynor Bryan J.
- Traynor Bryan J.
- Troakes Claire
- Troncoso Juan C.
- Troncoso Juan C.
- Troncoso Juan C.
- Tuck Meila
- Valori Miko
- Van Damme Philip
- Van Deerlin Vivianna M.
- Van Den Bosch Ludo
- Viollet Coralie
- Walton Ronald L.
- Wilkerson Matthew D.
- Woltjer Randy
- Wszolek Zbigniew K.
- Wszolek Zbigniew K.
- Xiromerisiou Georgia
- Zhang Xijun
- Zhao Xuefang
- Zinman Lorne
- Publication venue
- Publication date
- 04/05/2023
- Field of study
We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia
Mudança organizacional: uma abordagem preliminar
- Author
- 0'TOOLE James
- 0LSON Philip D
- 0UCHI William
- 1SABELLA L.A
- ABRAHAMSON E
- ACAR W
- ACHROL R.S
- ADIZES lchak
- ANDERSON D.L.
- ARAUJO Luis Cesar G. de
- ARAUJO Luis Cesar Gon lves de
- ARCHIER Georges
- ARGYRIS Chris
- ARONOFF C.E
- BAKOS S.C
- BARDWICK J.M
- BARTUNEK J.N
- BASIL Douglas Constantine
- BENNIS Warren G.
- BERMAN Marshall
- BERTRAND Kate
- BETZ T.G.
- BICE M
- BICE M
- BRAMSON R.A
- BRATKOVICH J.R
- BROWN J.S.
- BROWN R
- BRYAN J.E.
- BURNS Tom
- BUSH JR. J. B
- BYRD Richard E
- CALISH lrwing G
- CALORI R
- CARAVANTES Geraldo Ronchetti
- CARLTON M.R
- CARR C.D
- CHADWICK S.
- CHAISTIANS lan
- CHORN N.H.
- COHN Steven F
- COLE R.L.
- CONNOR P.E
- CORBITT G. F.
- COYLE J
- CULLEN John B
- CUMMINGS T.G
- CZARNECKI Gerald W
- DAILEY R.C
- DALZIEL Murray M
- DAMANPOUR F
- DAMANPOUR F
- DANIELSON Christer
- DAVIDSON K.M
- DAVIS S.M
- DE CHAMBEAU F.A
- DEAL Terence
- DEEPROSE D
- DeLISI P.S
- DENOVA C.C
- DERVEN M.G
- DONNELLON Anne
- DRAZIN R
- DREILINGER C
- DRUCKER Peter F
- DRUCKER Peter F
- DUMAINE Brian
- DUPUY J
- DYER William G
- ELLIOTI Ronald D
- ENGELBART D
- FARQUHAR C.R
- FARRELL L
- FELDENKIRCHEN Wilfried
- FITZGERALD J
- FITZGERALD T.H
- FLAMHOLTZ E
- FLETT F
- FONVIELLE William
- FOSTER Lawrence W
- FREITAS Maria Ester de
- FRIEDMAN S.D.
- FRITZ Norma R
- FROHMAN M
- FROHMAN M
- FROST Peter J
- GARCIA R.M
- GARCIA R.M
- GARCIA Ramon Moreira
- GIBSON J.l.
- GINSBERG A
- GIOIA D.A.
- GMELCH W.H.
- GOLEMBIEWSKI R.T
- GORDON G.G
- GOURVISH T.R
- GRANDORI A
- GREEINER L.E
- GREEN A
- GRIMM C.M.
- GRINYER P
- GROSSMAN Lee
- HAGGERTY A.G
- HALL J
- HALL L
- HANDY Charles
- HARARI 0
- HARARI 0
- HARRISON J. Richard
- HARRISON M.l
- HARRISON M.l
- HAUGH J.W
- HELFGOTI Roy B
- HENRICI S.B
- HERRINGTON G.M
- HERSEY Paul
- HERZBERG F
- HERZOG J.P
- HOLT J
- HORNSTEIN Harvey A
- HORTON T.R
- HORTON T.R
- HORTON Thomas R
- HOUNSHELL David A
- HOUSTON P
- HUEY J
- JACOBS D
- JAQUES Elliott
- JOHNSON J.D.
- JOHNSON Michael
- JONES Christopher G
- KANTER Rosabeth Moss
- KANTER Rosabeth Moss
- KANTER Rosabeth Moss
- KAZEMEK E.A.
- KAZEMEK Edward A
- KELLY D
- KETS DE VRIES Manfred F.R
- KIEL L. Douglas
- KILMANN R.H
- KILMANN R.H.
- KILMANN Ralph H
- KILMANN Ralph H
- KIMBERLY J.R
- KING Bob
- KING R.P.
- KIRKLAND R.I.
- KNIGHT K
- KOCH Donald L.
- KOTIER John P
- KOTLER Philip
- KRAM K.E.
- KUHN Robert Lawrence
- KUHN Thomas S
- LAND George
- LAURIE J
- LEHRER Robert N
- LINDER JaneC
- LIPPITI Gordon L
- LIPPITT Gordon
- LORD V
- MACCOBY M
- MACLAGAN Patrick W
- MACLEOD J.S.
- MAISEL L.S
- MALEKZADEH A.R
- MANN R.W
- MARCH JamesG
- MARGERISON C
- MARTIN D
- MASTENBROEK W.F.G
- MASTENBROEK W.F.G.
- McDONNELL E.D.
- McKAY Noble
- McKENDRICK J.E
- McQUADE H.A.
- MEARES Larry B
- MILLER J.T.
- MILLER S.G.
- MILLS D. Quinn
- MIRONOFF A
- MIRVIS Philip H
- MISAWA Mitsuru
- MOODY M.H
- MORAN Robert T
- MORGAN Gareth
- MORGAN John S
- MOURA Paulo Cavalcanti da Costa
- NADLER D.A.
- NAISBITI John
- NAISBITT John
- NAISBITT John
- NEIMAN A.A.
- NELSON Reed E
- NEWMAN G
- NICHOLAS John M
- NODELL R.S
- OVELLETTE L.P
- PARKER D
- PASCALE R.T
- PAYNE T
- PEREIRA Maria Jose L. Bretas
- PETERS T
- PETERS Tom
- PETERS Tom
- POLLERT Anna
- POLLOCK T
- PONDY L.R
- POWER B.L
- PRENTICE G
- PRIGOGINE llya
- RAMOS Alberto Guerreiro
- RANDOLPH W.A.
- RAUDSEPP E
- RICE A.K.
- ROSS G.H.B.
- ROTHWELL William J
- RUBIN I
- SAKAI Kun asu
- SANDY W
- SANDY W
- SANDY W
- SCHAEFFER D
- SCHEIN Edgar H
- SCHONBERGER Richard J
- SCHRAGE M
- SCHULER R.S.
- SCHUSTER M
- SCHWASS G.L
- SCOTT S
- SEMLER Ricardo
- SHERIDAN J.H
- SHERMAN C.F.
- SINK D Scott
- SPARKS R
- STEELE B
- STEVENS C.A.
- SULLIVAN J.J
- TAFT Susan Hoefflir
- THOMAS John M
- Thomaz Wood Jr
- THORNE P
- THORNE P
- TOFFLER Alvin
- TOWSEND Robert
- UTTERBACK J.M
- VAN DER ERVE M
- VASCONCELLOS Joao Gualberto Moreira
- VICKERY H.B
- VOZIKIS George S
- WALKER J.P.
- WANT J.H
- WARD K
- WATERMAN JR Robert H
- WATERMAN JR Robert H
- WEBER K.F.
- WELCH Jonathan B
- WERNER M
- WILLIAMS M.M
- WILSON Ira G
- WILSON l
- WRIGHT P.C
- YORKS Lyle
- ZMUD Robert W
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study