69 research outputs found
Sector Expansion and Elliptical Modeling of Blue-Gray Ovoids for Basal Cell Carcinoma Discrimination in Dermoscopy Images
- Author
- Publication venue
- Scholars\u27 Mine
- Publication date
- 01/02/2013
- Field of study
Background: Blue-gray ovoids (B-GOs), a critical dermoscopic structure for basal cell carcinoma (BCC), offer an opportunity for automatic detection of BCC. Due to variation in size and color, B-GOs can be easily mistaken for similar structures in benign lesions. Analysis of these structures could afford accurate characterization and automatic recognition of B-GOs, furthering the goal of automatic BCC detection. This study utilizes a novel segmentation method to discriminate B-GOs from their benign mimics.
Methods: Contact dermoscopy images of 68 confirmed BCCs with B-GOs were obtained. Another set of 131 contact dermoscopic images of benign lesions possessing B-GO mimics provided a benign competitive set. A total of 22 B-GO features were analyzed for all structures: 21 color features and one size feature. Regarding segmentation, this study utilized a novel sector-based, non-recursive segmentation method to expand the masks applied to the B-GOs and mimicking structures. Results: Logistic regression analysis determined that blue chromaticity was the best feature for discriminating true B-GOs in BCC from benign, mimicking structures. Discrimination of malignant structures was optimal when the final B-GO border was approximated by a best-fit ellipse. Using this optimal configuration, logistic regression analysis discriminated the expanded and fitted malignant structures from similar benign structures with a classification rate as high as 96.5%.
Conclusions: Experimental results show that color features allow accurate expansion and localization of structures from seed areas. Modeling these structures as ellipses allows high discrimination of B-GOs in BCCs from similar structures in benign images
Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas
- Author
- Abdel-Rahman Mohamed H.
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Agnew Kathy
- Ahn Keunsoo
- Ajani Jaffer A.
- Akbani Rehan
- Akbani Rehan
- Akeredolu Teniola
- Al-Ahmadie Hikmat
- Al-Ahmadie Hikmat
- Albert Monique
- Alexopoulou Iakovina
- Ally Adrian
- Alvaro Domenico
- Anderson Matthew L.
- Andry Chris
- Antenucci Anna
- Anur Pavana
- Anur Pavana
- Appelbaum Elizabeth L.
- Aredes Natália D.
- Armenia Joshua
- Arnaout Angel
- Asa Sylvia L.
- Auman J. Todd
- Aymerich Marta
- Aziz Dina
- Bailey Matthew
- Balasundaram Miruna
- Balu Saianand
- Barnett Gene
- Barnholtz-Sloan Jill S.
- Barrett Wendi
- Bartlett John
- Bathe Oliver
- Baudin Eric
- Baylin Stephen
- Becker Karl-Friedrich
- Beer David
- Behera Madhusmita
- Behrens Carmen
- Bell Debra
- Bell Sue
- Bellair Michelle
- Bennett Joseph
- Benz Christopher
- Benz Christopher
- Berchuck Andrew
- Berger Ashton C.
- Bergeron Alain
- Berkowitz Ross
- Bernard Brady
- Beroukhim Rameen
- Beuschlein Felix
- Bifulco Carlo
- Bigner Darell
- Birrer Michael
- Birsoy Kivanc
- Bocklage Therese
- Bodenheimer Tom
- Bondaruk Jolanta
- Bootwalla Moiz S.
- Borad Mitesh
- Borgia Jeffrey A.
- Bossler Aaron
- Botnariuc Natalia
- Boussioutas Alex
- Bowen Jay
- Bowlby Reanne
- Bowlby Reanne
- Bowman Rayleen
- Bradford Carol
- Bragazzi Maria Consiglia
- Brat Daniel J.
- Breggia Anne
- Brennan Kevin
- Brewer Cathy
- Brimo Fadi
- Broaddus Russell
- Brooks Denise
- Broom Bradley M.
- Broudy Thomas
- Bryce Alan H.
- Bubley Glenn
- Bueno Raphael
- Bullman Susan
- Burnette Andrew
- Byers Lauren Averett
- Caesar-Johnson Samantha J.
- Calatozzolo Chiara
- Campbell Joshua D.
- Campo Elias
- Campos Benito
- Caraman Irina
- Cardinale Vincenzo
- Carey Francis
- Carey Thomas
- Carlotti Carlos Gilberto
- Carlsen Rebecca
- Carney Michael
- Carpino Guido
- Carroll Peter R.
- Carter Candace
- Carvalho Andre L.
- Castle Erik
- Castro Patricia D.
- Catto James
- Cebulla Colleen M.
- Cernat Mircea
- Chabot John
- Chakravarty Debyani
- Chambwe Nyasha
- Chan June M.
- Chan Timothy A.
- Chandan Vishal
- Chang Kyle
- Chatila Walid K.
- Chemencedji Inga
- Chen Amy
- Chen Chu
- Chen Jianhong
- Chen Ting-Wen
- Chen Zhong
- Cheng Feixiong
- Cheng Hui
- Cherniack Andrew D.
- Cherniack Andrew D.
- Chesla David
- Chevalier Simone
- Cheville John
- Chiu Hua-Sheng
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Chung Ki
- Cibulskis Carrie
- Clipca Adrian
- Coarfa Cristian
- Colman Howard
- Cope Leslie
- Copland John A.
- Corcoran Niall
- Cordes Matthew G.
- Costello Tony
- Cottingham Sandra
- Couce Marta
- Covington Kyle
- Crain Daniel
- Cramer Daniel
- Creaney Jenette
- Creighton Chad J.
- Creighton Chad J.
- Cuppini Lucia
- Curley Erin
- Cuzzubbo Stefania
- Czerniak Bogdan
- Danilova Ludmila
- Davis Amy
- de Bruijn Ino
- de Carvalho Ana C.
- de Krijger Ronald
- De Rienzo Assunta
- De Rose Agostino
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Desjardins Laurence
- Devine Karen
- Deyarmin Brenda
- Dhalla Noreen
- Dhanasekaran Renumathy
- Dhankani Varsha
- Dhir Rajiv
- Diao Lixia
- Dimeco Francesco
- Ding Li
- Dinh Huyen
- Dinkin Mikhail
- Dipersio John
- Disaia Philip
- Doddapaneni Harshavardhan
- Donehower Larry
- Donehower Lawrence A.
- Doruc Serghei
- Dos Santos Jose Sebastião
- Dottino Peter R.
- Drake Bettina
- Drill Esther
- Drummond Jennifer
- Drwiega Paul
- Dubina Michael
- Duell Rebecca
- Duffy Elizabeth R.
- Eckman John
- Edenfield W. Jeffrey
- Eijckenboom Wil
- Elder J. Bradley
- Engel Jay
- Eschbacher Jennifer
- Esmaeli Bita
- Evason Kimberley
- Facciolo Francesco
- Fan Cheng
- Fan Huihui
- Fan Huihui
- Fantacone-Campbell J. Leigh
- Farnell Michael
- Farver Carol
- Fassnacht Martin
- Fehrenbach Ashley
- Felau Ina
- Feldman Michael
- Feltmate Colleen
- Ferguson Martin L.
- Finocchiaro Gaetano
- Flores Elsa R.
- Flotte Thomas
- Fong Kwun M.
- Force Seth
- Forgie Ian
- Frazer Scott
- Fregnani José H.
- Fronick Catrina C.
- Fujimoto Junya
- Fulop Jordonna
- Fulton Lucinda A.
- Fulton Robert S.
- Gabra Hani
- Gabriel Stacey B.
- Galbraith Joseph
- Gao Galen F.
- Gao Jianjiong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gaudio Eugenio
- Gay Carl M.
- Gehlenborg Nils
- Gerken Mark
- Gershenwald Jeffrey
- Getz Gad
- Gevaert Olivier
- Ghossein Ronald
- Giama Nasra
- Gibbs Richard A.
- Gilbert Sebastien
- Gillis Ad
- Gimenez-Roqueplo Anne-Paule
- Giné Eva
- Giordano Thomas
- Girard Nicolas
- Giuliante Felice
- Glenn Pat
- Glenn Robert
- Godwin Andrew K.
- Godwin Eryn M.
- Gonzalez Ana Maria Angulo
- Goodman Marc
- Gopalan Anuradha
- Goparaju Chandra
- Gorincioi Ghenadie
- Govindan Ramaswamy
- Graefen Markus
- Grazi Gianluca
- Grizzle William E.
- Gross Benjamin E.
- Guillermo Armando López
- Gunaratne Preethi
- Guo Charles
- Ha Gavin
- Haddad Andrea
- Hagedorn Curt H.
- Hale Walker
- Han Yi
- Hanh Phan Thi
- Hansen Paul
- Harr Jodi
- Hartmann Arndt
- Haydu Lauren
- Hayes D. Neil
- Hayes D. Neil
- Hayward Nicholas
- Heath Sharon
- Hegde Apurva
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary J.
- Henderson Joel
- Hermes Beth
- Hernandez Brenda
- Herold-Mende Christel
- Hersey Peter
- Hess Julian
- Hibshoosh Hanina
- Hilty Joe
- Hinoue Toshinori
- Ho Thai
- Hoadley Katherine A.
- Hoadley Katherine A.
- Holt Robert
- Hooke Jeffrey A.
- Hoon Dave
- Horowitz Neil
- Houck John
- Hovens Christopher
- Hoyle Alan P.
- Hu Hai
- Hu Jianhong
- Huland Hartwig
- Hung Nguyen Phi
- Huntsman David
- Hutter Carolyn M.
- Iacocca Mary
- Ittmann Michael
- Jacobus Laura
- Jakrot Valerie
- Janssen Klaus-Peter
- Jefferys Stuart R.
- Jimeno Antonio
- Jones Corbin D.
- Jones Steven J. M.
- Ju Zhenlin
- Juhl Hartmut
- Jungk Christin
- Junker Kerstin
- Kakavand Hojabr
- Kalkanis Steven
- Kanchi Rupa S.
- Kanchi Rupa S.
- Kandoth Cyriac
- Kang Koo Jeong
- Karlan Beth Y.
- Kasaian Katayoon
- Kasapi Melpomeni
- Kastl Alison
- Kebebew Electron
- Kefford Richard
- Kelley Robin K.
- Kemp Rafael
- Kendall Sara
- Kendler Ady
- Kendrick Michael
- Khuri Fadlo
- Kibel Adam
- Kim Jaegil
- Knijnenburg Theo
- Knudson Michael
- Knutson Tina
- Kocher Jean-Pierre
- Kohl Bernard
- Kopp Karla
- Korchina Viktoriya
- Korkut Anil
- Korpershoek Esther
- Korst Robert
- Kovatich Albert J.
- Kramer Roger
- Kucherlapati Melanie H.
- Kucherlapati Raju S.
- Kumar Bahavna
- Kundra Ritika
- Kvecher Leonid
- Kycler Witold
- La Konnor
- Lacombe Louis
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Laird Peter W.
- Landen Charles N.
- Landrum Lisa
- Lang James
- Larson Caroline
- Latour Mathieu
- Lau Kevin
- Lawrence Michael S.
- Lazar Alexander J.
- Lazar Alexander J.
- Le Xuan
- Lechan Ronald
- Lee Darlene
- Lee Jung Il
- Lee Kenneth
- Lee Sandra
- Lehman Norman L.
- Leinonen Kalle
- Leraas Kristen M.
- Levine Douglas A.
- Lewis Lora
- Ley Timothy
- Li Jun
- Li Wei
- Liang Han
- Lichtenberg Tara M.
- Lin Pei
- Linehan W. Marston
- Ling Shiyun
- Lipp Eric
- Liptay Michael J.
- Liu Jia
- Liu Wenbin
- Liu Xiuping
- Liu Yuexin
- Liu Yuexin
- Logothetis Christopher
- Lohavanichbutr Pawadee
- Lolla Laxmi
- Long Georgina
- Longatto-Filho Adhemar
- Looijenga Leendert
- Lu Yiling
- Luketich James
- Luna Augustin
- Lyadov Vladimir
- Ma Deqin
- Ma Wencai
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocca Kelly
- Maithel Shishir
- Mallery David
- Malykh Andrei
- Mandt Randy
- Manikhas George
- Mann Graham
- Mannel Robert
- Mannelli Massimo
- Mardis Elaine R.
- Mariamidze Armaz
- Mariani Odette
- Marino Mirella
- Marks Jeffrey
- Marra Marco A.
- Martignetti John A.
- Martin Julie
- Mattei Luca
- Mayo Michael
- Mccall Shannon
- Mcgraw Mary
- Mckercher Ginette
- Mclellan Michael D.
- Mclendon Roger
- Mcpherson Christopher
- Meier Sam
- Melamed Jonathan
- Meng Shaowu
- Meric-Bernstam Funda
- Merola Roberta
- Mes-Masson Anne-Marie
- Metwalli Adam R.
- Meyerson Matthew
- Mieczkowski Piotr A.
- Mikkelsen Tom
- Milhem Mohammed
- Miller Christopher A.
- Miller Judy
- Miller Michael
- Mills Gordon B.
- Mirsaidi Cyrus
- Moiseenko Fedor
- Moncrieff Marc
- Moore Kathleen
- Moore Richard A.
- Moran Cesar
- Morgan Margaret
- Morris Scott
- Morrison Carl
- Morton Donna
- Mose Lisle E.
- Moser Catherine
- Moxley Katherine
- Moyer Jeffey
- Mungall Andrew J.
- Mungall Karen
- Mungall Karen L.
- Mura Sergiu
- Mural Richard J.
- Murawa Dawid
- Muto Michael
- Muzny Donna
- Myers Jerome
- Nagorney David
- Nair Praveen
- Naresh Rashi
- Naska Theresa
- Nelson Mark
- Ng Kwok-Shing
- Nguyen Phuong
- Nissan Moriah G.
- Noble Michael S.
- Noss Ardene
- Noushmehr Houtan
- O'Brien Daniel
- O'Neill Brian Patrick
- Ochoa Angelica
- Ojesina Akinyemi I.
- Olabode Oluwole
- Olson Jeffrey J.
- Omberg Larsson
- Oosterhuis Wolter
- Ostrom Quinn T.
- Owonikoko Taofeek
- Pacak Karel
- Paklina Oxana
- Parfitt Jeremy
- Park Joong-Won
- Parker Joel S.
- Pass Harvey
- Patel Tushar
- Paulauskis Joseph
- Pedamallu Chandra Sekhar
- Pennell Nathan A.
- Penny Robert
- Perin Alessandro
- Perou Amy H.
- Perou Charles M.
- Petersen Gloria
- Peterson Lisa
- Peto Myron
- Peto Myron
- Phillips Joanna
- Phillips Sarah M.
- Phu Bui Duc
- Piché Alain
- Pickens Alan
- Pickering Curtis R.
- Pihl Todd
- Pilarski Robert
- Pinero Edna M. Mora
- Pinto Peter A.
- Pirtac Maria
- Pollo Bianca
- Pool Mark
- Porten Sima
- Postier Russel
- Potapova Olga
- Powers James
- Prados Michael
- Prince Mark
- Prunello Marcos
- Que Florencia
- Quinn Michael
- Quintero-Aguilo Mario
- Rabeno Brenda
- Rader Janet S.
- Rai Karan
- Ramalingam Suresh
- Ramirez Nilsa C.
- Ramondetta Lois
- Rao Arvind
- Rassl Doris M.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Raymond Daniel
- Reis Rui M.
- Reuter Victor
- Reynolds Sheila
- Reznik Ed
- Rice David
- Richards William G.
- Rintoul Robert C.
- Rivera Michael
- Roach Jeffrey
- Roberts Lewis
- Robertson A. Gordon
- Robertson A. Gordon
- Robinson Bruce
- Roggin Kevin
- Roman-Roman Sergio
- Rosenthal Howard G.
- Rozek Laura
- Rubin Mark A.
- Rustgi Anil K.
- Ryan Michael
- Saad Fred
- Sadeghi Sara
- Sadeghi Sara
- Saksena Gordon
- Sanchez-Vega Francisco
- Sander Chris
- Sankarankuty Ajith
- Santibanez Jireh
- Sastre Xavier
- Sauter Guido
- Saw Robyn
- Scapulatempo-Neto Cristovam
- Scarpace Lisa
- Schadendorf Dirk
- Schein Jacqueline E.
- Schiffman Mark
- Schilero Cathy
- Schlomm Thorsten
- Schmidt Heather K.
- Schmidt Laura S.
- Schoenfield Lynn
- Schultz Andre
- Schultz Nikolaus
- Schumacher Steven E.
- Scolyer Richard
- Secord Angeles
- Seder Christopher W.
- Sekhon Harman
- Senecal Kelly
- Sepulveda Antonia
- Setdikova Galiya
- Sexton Katherine C.
- Shabunin Alexey
- Shannon Kerwin
- Sharp Alexis
- Shelley Carl Simon
- Shelton Candace
- Shelton Troy
- Shen Hui
- Shen Hui
- Shen Ronglei
- Sheridan Robert
- Sherman Mark
- Sheth Margi
- Shi Yan
- Shih Juliann
- Shih Juliann
- Shimmel Kristen
- Shin Dong M.
- Shinbrot Eve
- Shipman Cassaundra
- Shmulevich Ilya
- Shriver Craig D.
- Sica Gabriel
- Sifri Suzanne
- Sigmund Rita
- Signoretti Sabina
- Silveira Henrique C. S.
- Simko Jeffry
- Simon Ronald
- Simons Janae V.
- Singer Samuel
- Singh Bhuvanesh
- Singh Rosy
- Sipahimalani Payal
- Skelly Tara
- Sloan Andrew E.
- Slotta-Huspenina Julia
- Smallridge Robert
- Smith Jennifer
- Smith-McCune Karen
- Smolenski Kathy
- Smyrk Thomas
- Sofia Heidi J.
- Soloway Matthew G.
- Somiari Stella
- Sood Anil
- Spellman Paul
- Spillane Andrew
- Stancul Irina
- Stanton Melissa
- Staugaitis Susan M.
- Steele Ruth
- Stepa Serghei
- Stern Marc-Henri
- Stoehr Christine
- Stoehr Robert
- Stoop Hans
- Stretch Onathan
- Stuart Joshua M.
- Stuart Joshua M.
- Su Tao
- Sumazin Pavel
- Sumer S. Onur
- Sun Qiang
- Sun Yichao
- Swanson Patricia
- Swisher Elizabeth
- Synott Maria
- Tam Angela
- Tamakawa Raina
- Tamboli Pheroze
- Tan Donghui
- Tang Yufang
- Tarnuzzer Roy
- Taubert Helge
- Tavobilov Mikhail
- Taylor Alison M.
- Taylor Barry S.
- Tcaciuc Diana
- Tennstedt Pierre
- Thiessen Nina
- Thomas George
- Thompson Eric
- Thompson John
- Thompson R. Houston
- Thompson Timothy
- Thorp Richard
- Thorsson Vesteinn
- Tien Nguyen Viet
- Timmers Henri
- Tirapelli Daniela
- Tischler Arthur
- Torbenson Michael
- Troncoso Patricia
- Tsai Kenneth Y.
- Tsao Anne
- Tse Kane
- Tucker Kelinda
- Têtu Bernard
- Unterberg Andreas
- Urba Walter
- Valdivieso Federico
- Van Bang Nguyen
- Van Den Berg David J.
- van Kessel Kim E.
- Van Meir Erwin G.
- Van Tine Brian
- Van Waes Carter
- Vandenberg Scott
- Veluvolu Umadevi
- Vicha Ales
- Vidal Daniel O.
- Vocke Cathy D.
- Voet Doug
- von Deimling Andreas
- Voronina Olga
- Wach Sven
- Wakely Paul
- Waldmann Jens
- Walker Joan
- Walter Vonn
- Wan Yunhu
- Wang Chen
- Wang Jing
- Wang Jing
- Wang Jioajiao
- Wang Linghua
- Wang Min
- Wang Timothy
- Wang Zhining
- Warnick Ronald
- Weinstein John N.
- Weinstein John N.
- Weisenberger Daniel J.
- Wentzensen Nicolas
- Westervelt Peter
- Wheeler David A.
- Wilkerson Matthew D.
- Williams Felicia
- Wilmott James
- Wilson Richard K.
- Wise Lisa
- Wistuba Ignacio
- Wiznerowicz Maciej
- Wolf Gregory
- Wolinsky Yingli
- Wong Christopher K.
- Wong Christopher K.
- Wong Tina
- Worrell Robert
- Wu Ye
- Wullich Bernd
- Xi Liu
- Yang Hannah
- Yang Ian
- Yang Ju Dong
- Yang Liming
- Yau Christina
- Yau Christina
- Yena Peggy
- Zach Leigh Anne
- Zaren Howard
- Zelinka Tomas
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Hongzheng
- Zhang Jiashan (Julia)
- Zhang Jiexin
- Zhang Lizhi
- Zhang Wei
- Zhao Fengmei
- Zhou Jane H.
- Zhou Wanding
- Zmuda Erik
- Zuna Rosemary
- Zuna Rosemary
- Zwarthoff Ellen C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2018
- Field of study
This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing
molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar M. S.
- Abdel-Aziz M.
- Abdelrazik M.
- Abdollahi H.
- Abdullah T.
- Abecasis G. R.
- Abedalthagafi M.
- Abel L.
- Abernathy C.
- Abraheem A.
- Abul-Husn N. S.
- Acquilini D.
- Adams C.
- Adams E. L.
- Adams K.
- Adamsara A.
- Adanini O.
- Adeleye O.
- Adra D.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Agasou A.
- Agrawal S.
- Aguero D.
- Ahmad N.
- Ahmadi S.
- Ahmed A.
- Ahmed C.
- Akeroyd L.
- Akhtar M. N.
- Akinkugbe O.
- Aksentijevich A.
- Al-Afghani H.
- Al-Awdah L.
- Alaamery M.
- Alahmadey Z. Z.
- Alaverdian D.
- Alavere H.
- Albader A.
- Albaiceta G. M.
- Albakri J. K.
- AlBardis H.
- Albeladi M.
- Albesher N.
- Albrich W.
- AlDhawi N.
- Aldridge J.
- Aleagha A. E.
- Alexander P.
- Alfonso J.
- Alghamdi B.
- Alghamdi J.
- Ali A.
- Ali A.
- Ali I. A. M.
- Ali S.
- Aliannejad R.
- Aljawini N.
- AlJohani S.
- Alkwai S.
- Allan A.
- Allan E.
- Allan J.
- Alldis Z.
- Allen L.
- Allen M.
- Allen S.
- Allibone S.
- Allison K. S.
- Allos R.
- Ally S. M.
- AlMalik A.
- Almalki F.
- Almohammed I.
- Almutairi M.
- Alotaibi S.
- Alowayn A. M.
- Alqahtani S.
- Alqubaishi F.
- Alrashed M.
- Alshareef A.
- Alsolm E.
- Alswailm M.
- Altabaibeh A.
- Alvaro A.
- AlZahrani D.
- Amin V.
- Amirsavadkouhi A.
- Amitrano S.
- Anastasescu E.
- Anderson F.
- Anderson J.
- Anderson M.
- Anderson P.
- Anderson S.
- Anderson S.
- Anderson T.
- Andolfo I.
- Andretta F.
- Andreucci E.
- Andrew A.
- Andrew B.
- Andrew G.
- Andrews E.
- Andrews S. J.
- Anedda F.
- Anemoli V.
- Annis A.
- Antcliffe D.
- Antinori A.
- Antoni M. D.
- Anumakonda V.
- Apetri E.
- Aquino M.
- Arabi Y. M.
- Aravindan L.
- Arbane G.
- Archer K.
- Arden T.
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- Arribas E.
- Artuso R.
- Arumugam P.
- Ascolillo S.
- Ashraf S.
- Ashton L.
- Aslibekyan S.
- Astin-Chamberlain R.
- Asvold B. O.
- Atkinson E. G.
- Attwood B.
- Aucella F.
- Auld D.
- Auld F.
- Austin K.
- Austin P.
- Auton A.
- Ayers A.
- Azarzar S.
- Bachetti T.
- Baikady R. R.
- Baillie J. K.
- Baines B.
- Baines D.
- Baines K.
- Baird Y.
- Bakthavatsalam D.
- Balaconis M. K.
- Baldassarri M.
- Ball C. A.
- Baltzell A. H.
- Bamford A.
- Bamford P.
- Banach D.
- Bancroft H.
- Band G.
- Bandini M.
- Bandla N.
- Bano S.
- Baptista D.
- Barakeh D.
- Baras A.
- Baratti S.
- Barber R.
- Barberis L.
- Barbieri C.
- Barclay L.
- Bargagli E.
- Barhoush E.
- Barker J.
- Barnes K. C.
- Baroni S.
- Barrett F.
- Barron A.
- Barry P.
- Bartels M.
- Bartley S.
- Baruah R.
- Bashyal A.
- Basikolo C.
- Bassetti M.
- Bastion V.
- Bates H.
- Bates M.
- Batini C.
- Battle C.
- Bauchmuller K.
- Baxter N.
- Baya N.
- Bayo L. -A.
- Beadle J.
- Bean S.
- Beaumont K.
- Beavis S.
- Beck A.
- Beckmann N. D.
- Bedini J. L.
- Bee C. E.
- Beech E.
- Beech V.
- Beekes M.
- Beesley K.
- Begg C.
- Beguin Y.
- Behan T.
- Beith C. M.
- Belagodu Z.
- Belbin G. M.
- Belfield H.
- Belhaj Y.
- Beligni G.
- Belisle A.
- Bell D.
- Bell G.
- Bell M.
- Bell S.
- Bellamy M.
- Belli M. A.
- Bellini A.
- Bellwood R.
- Below J.
- Bemand T.
- Benetti E.
- Benham L.
- Bennett D.
- Bennett S.
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- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2022
- Field of study
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2–4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
Alterations to Melanocortinergic, GABAergic and Cannabinoid Neurotransmission Associated with Olanzapine-Induced Weight Gain
- Author
- A Csiffa'ry
- A Hartfield
- A Matsui-Sakata
- A Secher
- AC Howlett
- AG Roseberry
- AK Tiwari
- Alice Y. W. Chang
- AV Derbenev
- B Beck
- B Beck
- B Meister
- B Meister
- B Pouzet
- B Roth
- B Xu
- BE Alger
- BG Stanley
- C Ballard
- C Bridle
- C Broberger
- C Budman
- C Deng
- C Deng
- C Deng
- C Li
- C Nemeroff
- Chao Deng
- D Cota
- D Gothelf
- D Pickar
- D-Y Kuo
- D-Y Kuo
- DB Allison
- DJ Rader
- DL Kaufman
- DL Martin
- DM Bronstein
- E Gropp
- E Obuchowicz
- E Obuchowicz
- E Obuchowicz
- E Obuchowicz
- E Obuchowicz
- E Richelson
- E-M Kim
- EM van der Zwaal
- F Berrendero
- F Brambilla
- F Bymaster
- F Bymaster
- F Centorrino
- FCJ Starrenburg
- FJ Bermudez-Silva
- G Hollopeter
- G Paxinos
- G Pelletier
- G Remington
- GP Reynolds
- H Krude
- H Nasrallah
- H Nasrallah
- H Yoshimatsu
- H-R Berthoud
- IB Frenchman
- J Balcombe
- J Ferno
- J Harrold
- J Minet-Ringuet
- J Minet-Ringuet
- J Newcomer
- J Qiu
- J Tauscher
- JC Erickson
- JCM Beasley
- JRW Menzies
- K Weston-Green
- K Weston-Green
- KA Sharkey
- Katrina Weston-Green
- KM Gamber
- L Ste Marie
- L Vong
- LF Faulconbridge
- LK Heisler
- LL Ling
- M Aravagiri
- M De Hert
- M Esclapez
- M Han
- M Heilig
- M Heilig
- M Ota
- MA Cowley
- MB Cope
- MCM Ryan
- MD Van Sickle
- MW Schwartz
- N Davoodi
- NM Martin
- P Cavuoto
- PJ Weiden
- Q Nguyen
- Q Tong
- Q Wu
- R Coccurello
- R Cone
- R Gomez
- R Nogueiras
- RB Meeker
- RG Pertwee
- RI Wilson
- S Akbarian
- S Archie
- S Brown
- S Feldblum
- S Kapur
- S Kapur
- S Kirk
- S Lin
- S Lin
- S Qian
- S Reagan-Shaw
- S Wai
- SF Kim
- SL Kirk
- ST Hentges
- ST Hentges
- T Baptista
- T Kirkham
- TC Kirkham
- TL Horvath
- U Eder
- V Albaugh
- V Di Marzo
- VE de Meijer
- WK Kroeze
- X-F Huang
- X-F Huang
- X-M Guan
- XF Huang
- Xu-Feng Huang
- Y Zhang
- Z-J Zhang
- Publication venue
- Public Library of Science
- Publication date
- 01/01/2012
- Field of study
Background/Aim: Second generation antipsychotics (SGAs) are used to treat schizophrenia but can cause serious metabolic side-effects, such as obesity and diabetes. This study examined the effects of low to high doses of olanzapine on appetite/ metabolic regulatory signals in the hypothalamus and brainstem to elucidate the mechanisms underlying olanzapineinduced obesity. Methodology/Results: Levels of pro-opiomelanocortin (POMC), neuropeptide Y (NPY) and glutamic acid decarboxylase (GAD65, enzyme for GABA synthesis) mRNA expression, and cannabinoid CB1 receptor (CB1R) binding density (using [ 3 H]SR-141716A) were examined in the arcuate nucleus (Arc) and dorsal vagal complex (DVC) of female Sprague Dawley rats following 0.25, 0.5, 1.0 or 2.0 mg/kg olanzapine or vehicle (36/day, 14-days). Consistent with its weight gain liability, olanzapine significantly decreased anorexigenic POMC and increased orexigenic NPY mRNA expression in a dose-sensitive manner in the Arc. GAD65 mRNA expression increased and CB1R binding density decreased in the Arc and DVC. Alterations to neurotransmission signals in the brain significantly correlated with body weight and adiposity. The minimum dosage threshold required to induce weight gain in the rat was 0.5 mg/kg olanzapine. Conclusions: Olanzapine-induced weight gain is associated with reduced appetite-inhibiting POMC and increased NPY. This study also supports a role for the CB1R and GABA in the mechanisms underlying weight gain side-effects, possibly b
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
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- 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
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- Durda Peter
- Döring Angela
- Dörr Marcus
- Eastell Richard
- Easton Douglas F
- Ebrahim Shah
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- 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
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- Eury Elodie
- Evangelou Evangelos
- Evans Alun
- Evans David M
- Eyheramendy Susana
- Eyjolfsson Gudmundur Ingi
- Fagerholm Emma
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- Farrall Martin
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- 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
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- 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
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- Howard Philip
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- Hu Frank B
- Huang Huateng
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- Hui Jennie
- Humphries Steve E
- Hundertmark Claudia
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- Hunt Sarah E
- Hunt Steven C
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- Hveem Kristian
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- Igl Wilmar
- Ikram M Arfan
- Illig Thomas
- Imboden Medea
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- Ingle Catherine
- Ingvarsson Thorvaldur
- Ioannidis John P A
- Iribarren Carlos
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- Isakova Tamara
- Islam Muhammad
- Ittermann Till
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- Jackson Anne U
- Jackson Rebecca
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- Jameson Karen A
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- Jarvelin Marjo-Riitta
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- Johansen Berit
- Johansson Ingegerd
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- Johnson Andrew
- Johnson Louise
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- Johnson Toby
- Jones Graeme
- Jones Michelle R
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- Ju Sung Yun
- Jukema J Wouter
- Jula Antti
- Juliusdottir Thorhildur
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- Järvelin Marjo-Riitta
- Jöckel Karl-Heinz
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- Kahali Bratati
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- Kaptoge Stephen K
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- Wilson Scott G
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- 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
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
- Author
- Aarno Palotie
- Abdolmajid Hosseini
- Abdulaziz AlMalik
- Abdulraheem Alshareef
- Achille Iolascon
- Adam S. Butterworth
- Afshar Etemadi Aleagha
- Agnese Verzuri
- Agostino Ognibene
- Agostino Riva
- Ahmadreza Niavarani
- Ahna Girshick
- Aida Fiz-Lopez
- Alba Parra Martınez
- Albandary M. Alowayn
- Albert Tenesa
- Albert V. Smith
- Alessandra Guarnaccia
- Alessandra Renieri
- Alessandra Stella
- Alessandra Vergori
- Alessandro Pancrazzi
- Alessia Giorli
- Alex Serra-Llovich
- Alex Soriano
- Alex Stuckey
- Alexander Labkowsky
- Alexander T. Williams
- Alexander W. Charney
- Alexandra Aksentijevich
- Alexandre Belisle
- Ali Amirsavadkouhi
- Ali Sobh
- Alice Donati
- Alicia de Felipe Mimbrera
- Alicia R. Martin
- Alireza Adamsara
- Altaf Ali
- Amal Al Mutairi
- Amin K. Khattab
- Amr M. Yassen
- Amr Samir
- Amy Trankiem
- Anastasia Lucas
- Andre G. Uitterlinden
- Andrea Antinori
- Andrea Cossarizza
- Andrea Ganna
- Andrea Ganna
- Andrea Martın-Nalda
- Andrea Tommasi
- Andres Metspalu
- Andrew Beck
- Andrew P. Boughton
- Anil P. S. Ori
- Ann E. Woolley
- Anna Canaccini
- Anna Carreras
- Anna Dominguez-Mayoral
- Anna L. Guyatt
- Anna M. Planas
- Anna Maria Pinto
- Annarita Giliberti
- Anne E. Justice
- Anne Kallaste
- Anne Marie O’Connell
- Anne Richmond
- Anne Richmond
- Anne-Sophie Sauvage
- Annique Claringbould
- Anoud Albader
- Antonella D’Arminio Monforte
- Antonella Vincenti
- Antonio Di Biagio
- Antonio Perrella Francesco Bianchi
- Anu Tamm
- Anurag Verma
- Archie Campbell
- Archie Campbell
- Arianna Emiliozzi
- Arianna Gabrieli
- Aris Baras
- Arthur Timothy D
- Asher Haug Baltzell
- Ashish Yadav
- Athanasios Kousathanas
- Attia A. S. Mohamed
- Aubrey Annis
- Augusto Rendon
- Avromie Karp
- Bader Alghamdi
- Bahareh Sharififard
- Bandar A. Suliman
- Barbara Rossetti
- Bari Britvan
- Bartlomiej P. Przychodzen
- Beatriz Cortes
- Beatriz Dietl
- Ben M. Brumpton
- Benjamin M. Neale
- Benoit Misset
- Bernard Lambermont
- Bhavi Trivedi
- Binglan Li
- Biswarup Ghosh
- Bjørn Olav Asvold
- Bluma Brenner
- Brett L. Collins
- Brooke Rhead
- Brooke Wolford
- Brooke Wolford
- Brooke Wolford Sebastian Zo¨ llner
- Bruno Frediani
- Carlo Rivolta
- Carlos Domingo
- Carlota Dobano
- Carmelo Piscopo
- Carmen Marciano
- Carolina Medina-Gomez
- Caroline Cusick
- Caroline Hayward
- Caroline Hayward
- Caterina Lo Rizzo
- Catherine A. Ball
- Catherine E. Bee
- Catherine John
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- Cesira Nencioni
- Charlotte Guzman
- Chiara Barbieri
- Chiara Batini
- Chiara Fallerini
- Chiara Gabbi
- Chiara Spertilli
- Chloe Fawns-Ritchie
- Chloe Fawns-Ritchie
- Chris C. A. Spencer
- Chris Tselios
- Christelle Meuris
- Christian Von Frenckell
- Christine Stevens
- Christine Stevens
- Christopher A. Odhams
- Christopher J. Griffiths
- Christopher J. O’Donnell
- Christopher R. Gignoux
- Christos Polymeropoulos
- Chureerat Phokaew
- Claire Churchhouse
- Claudia Suardi
- Claudio Ferri
- Clive Hoggart
- Cotton Seed
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- Cristen Willer
- Cristina Mussini
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- D'Antonio-Chronowska Agnieszka
- Daiana Aguero
- Dan Mason
- Daniel Auld
- Daniel E. Kaufmann
- Daniel I. Chasman
- Daniel J. Wilson
- Daniel King
- Daniel M. Jordan
- Daniel Rader
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- Daniela Francisci
- Danielle Henry
- Danilo Tacconi
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- Hamed Abdollahi
- Hani Al-Afghani
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- Luong Ruiz
- M. Arfan Ikram
- Maarja Lepamets
- Madeleine Durand
- Madonna M. Eltoukhy
- Maha Albeladi
- Mahmoud Abdel-Aziz
- Mairo Puusepp
- Malak Abedalthagafi
- Manal Alaamery
- Manolis Kogevinas
- Mansour Almutairi
- Manuel A. R. Ferreira
- Marc Afilalo
- Marcela Morris
- Marco Castori
- Marco Falcone
- Marco Feri
- Marco Gori
- Marco Mandala`
- Marco Rizzi
- Marco Tanfoni
- Marco Vecchia
- Margherita Baldassarri
- Mari E. K. Niemi
- Mari E. K. Niemi
- Mari E. K. Niemi
- Mari E. K. Niemi
- Mari E. K. Niemi
- Mari Kaunisto
- Maria Antonietta Mazzei
- Maria Antonietta Mencarelli
- Maria Bandini
- Maria J. Arranz
- Maria Lorubbio
- Maria Palmieri
- Maria Teresa La Rovere
- Marie Coignet
- Marie Thys
- Mario Capasso
- Mario Tumbarello
- Mario Umberto Mondelli
- Marissa Zyndorf.
- Mark Daly
- Mark J. Caulfield
- Markus Perola
- Marta Corridi
- Marta Garcıa-Clemente
- Marta GuindoMartinez
- Marta L. DeDiego
- Martin D. Tobin
- Marwa H. Elnagdy
- Mary Ann Belli
- Mary K. Balaconis
- Marylyn D. Ritchie
- Masahiro Kanai
- Masahiro Kanai
- Masahiro Kanai
- Massimiliano Fabbiani
- Massimo Carella
- Massimo Di Pietro
- Massimo Girardis
- Massimo Mangino
- Massimo Vaghi
- Mathieu Quinodoz
- Matsui Hiroko
- Matteo Bassetti
- Matteo Della Monica
- Matteo Siano
- Matthew C. Gass
- Matthew Solomonson
- Matthew Solomonson
- Matti Pirinen
- Mattia Cordioli
- Mattia Cordioli
- Mattia Cordioli
- Mattia Cordioli
- Mattia Cordioli
- Mattia Cordioli
- Mattia Cordioli
- Mattia Cordioli
- Maureen Oliveira
- Maurizio Bussotti
- Maurizio Sanarico
- Maurizio Sanguinetti
- May Alrashed
- Meike Bartels
- Melania Degli Antoni
- Menachem Zlatopolsky
- Meriem Bouab
- Miao Zhang
- Michael Gaddis
- Michael Hultstro¨ m
- Michael N. Cantor
- Michael Peruggia
- Michael Preuss
- Michae¨ l Chasse´
- Michel (M. G. ) Nivard
- Michel Georges
- Michel Moutschen
- Michelle Daya
- Mihael H. Polymeropoulos
- Miklos Lipcsey
- Milos Pavlovic
- Mirella Bruttini
- Miriam Lucia Carriero
- Miriana D’Alessandro
- Mirjam Lista
- Mohamed A. F. Hegazy
- Mohamed R. El-shanshory
- Mohamed S. Abd Elghafar
- Mohamed S. Torky
- Mohammad S. Fawzy
- Mohammed A. Eid
- Mona Sawaji
- Moneera Alswailm
- Monica Poscente
- Monnat Pongpanich
- Monpat Chamnanphon
- Morteza Saeedi
- Nadia Harerimana
- Nardin Rezk Branka Vulesevic
- Natalia Blay
- Natalia Cullell
- Nathalie Brassard
- Nathan Berkowitz
- Nathan Cheng
- Nattiya Hirankarn
- Navya Shilpa Josyula
- Nguyen Jennifer P
- Nicholas Rafaels
- Nick Shrine
- Nicola Picchiotti
- Nicolas Arning
- Nicolas Tardif
- Nicole Soranzo
- Nikolas Baya
- Nils Koelling
- Noam D. Beckmann
- Noemie Boillat
- Noemie Suh
- Nofar Kimchi
- Noor Mamlouk
- Nora Aljawini
- Nouf AlDhawi
- Nour Albesher
- Noura S. Abul-Husn
- Olav Rooyackers
- Olivier Malaise
- Olumide Adeleye
- Opass Putchareon
- Oreste De Vivo
- P-PredictUs SeroCOVID
- Pajaree Chariyavilaskul
- Paloma de la Cal-Sabater
- Paloma Menendez-Valladares
- Pamela Raggi
- Paola Bergomi
- Paola Petrocelli
- Paolo Cameli
- Paolo Di Domenico
- Paolo Piacentini
- Part Peterson
- Pascale Huynen
- Patrick Deelen
- Patrick Turley
- Patrizia Zucchi
- Pattama Torvorapanit
- Paul H. Lee
- Paul M. Ridker
- Paul Naaber
- Paul O’Reilly
- Paul R. H. J. Timmers
- Pauline Lanting
- Per Magnus
- Pere Soler
- Petty E. Lauren
- Phil Tsao
- Philippe Le´ onard
- Pier Giorgio Scotton
- Pierpaolo Parravicini
- Pierre Lepage
- Pierre-Yves Bochud
- Pietro Pinoli
- Pimpayao Sodsai
- Pintip Suchartlikitwong
- Prabhu Arumugam
- Qin Qin Huang
- Rachel G. Liao
- Rafael de Cid
- Raffaele Bruno
- Raffaele Scala
- Raghavendran Partha
- Rahul Gupta
- Raili Allos
- Rana Hasanato
- Rasoul Aliannejad
- Ravaglia Sabrina
- Raymond K. Walters
- Reedik Magi
- Renato Polimanti
- Renzo Scaggiante
- Riccardo Colombo
- Richard C. Trembath
- Richard H. Scott
- Richard J. Packer
- Rita Perna
- Roaa T. Halawani
- Robert C. Free
- Robert C. Green
- Robert Frithiof
- Robert P. Sebra
- Robert Warmerdam
- Roberta Russo
- Roger Colobran
- Ron Do
- Rosangela Artuso
- Rossella Tita
- Rui Li
- Ruth J. F. Loos
- Ryan C. Thompson
- Sabine Claassen
- Sabino Scolletta
- Sabrina Ravaglia
- Saeideh Ahmadi
- Salam Massadeh
- Saleh Alqahtani
- Sam Bryant
- Sam Bryant
- Sam Choi
- Sameer Chavan
- Sameera AlJohani
- Sami Koskelainen
- Samira Azarzar
- Samuli Ripatti
- Sandra P. Smieszek
- Sandro Mancarella
- Sandro Panese
- Sanni Ruotsalainen
- Sara Alotaibi
- Sara Amitrano
- Sara Pigazzini
- Sara Pigazzini
- Sara Pigazzini
- Sara Pigazzini
- Sarah Alkwai
- Sarah Finer
- Sarah G. Earle
- Sauro Luchi
- Saverio Giuseppe Parisi
- Scott T. Weiss
- Sebastian Garcıa Madrona
- Semira Gonseth Nussle
- Serafina Valente
- Serena Ludovisi
- Serghei Mangul
- Sergio Daga
- Seyed Behrooz Mohseni Moghaddam
- Shang-Kuan Lin
- Shannon McCurdy
- Shawn N. Murphy
- Shawneequa Callier
- Shea J. Andrews
- Shea J. Andrews
- Shea J. Andrews
- Shefali S. Verma
- Shona M. Kerr
- Silvia Baroni
- Silvia Cappelli
- Silvia Rojo
- Simona Dei
- Simona Marcantonio
- Simona Sarzi-Braga
- Simone Furini
- Slayton J. Underwood
- Sophie Venturelli
- Souad Rahmouni
- Spencer Knight
- Stefania Mantovani
- Stefano Baratti
- Stefano Busani
- Stefano Ceri
- Stefano Rusconi
- Stephanie Bibert
- Stephen J. Wicks
- Steven Ascolillo
- Ste´ phanie Gofflot
- Stuart C. Sealfon
- Susan Walker
- Susanna Croci
- Susanna Guerrini
- Tala Abdullah
- Tamer A. Elhadidy
- Tess Levy
- Thanyawee Puthanakit
- Thitima B. Suttichet
- Tim D. Spector
- Tiziana Bachetti
- Tom Fowler
- Tomas Segura
- Tomislav Maricic
- Tomoko Nakanishi
- Tomoko Nakanishi
- Tonu Esko
- Tooraj Mirshahi
- Tormod Rogne
- Triin Laisk
- Tullio Trotta
- Valentina Anemoli
- Vasilios Polymeropoulos
- Veronica Rico
- Veronica Robles
- Ve´ronique Erard
- Victor Moreno
- Vincent Mooser
- Vincenzo Forgetta
- Vincenzo Forgetta
- Voraphoj Nilaratanakul
- Vorasuk Shotelersuk
- Walaa A. Felemban
- Walaa M. El-Lawaty
- Walid T. Khafaga
- Wanna Chetruengchai
- Watsamon Jantarabenjakul
- Wei Zhou
- Wei Zhou
- Wenhan Lu
- Werner Albrich
- Xavier Farre
- Xiao Chang
- Xiao Chang
- Xiaoqing Xue
- Xueyang Wang
- Yan V. Sun
- Yaseen M. Arabi
- Yasmine Belhaj
- Yasser M. El-Sherbiny
- Yen-Chen Anne Feng
- Yuk-Lam Ho
- Yuki Bradford
- Yunsung Lee
- Yuval Itan
- Yves Beguin
- Zaman Afrasiabi
- Zeinab Naderpour
- Zhu Wanying
- Ziab Z. Alahmadey
- Øyvind Helgeland
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2022
- Field of study
Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to
genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility
and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component.
Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci
(eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene),
including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform
genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer
SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the
diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types
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.
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- Heath Andrew C.
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- Heinrich Joachim
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- Hide Winston A.
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- Hitman Graham A.
- Hoesel Volker
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- Hofmann Oliver M.
- Holm Hilma
- Homuth Georg
- Hopewell Jemma C.
- Horikoshi Momoko
- Horne Benjamin D.
- Hottenga Jouke Jan
- Hu Frank B.
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- Huikuri Heikki V.
- Hunter David J.
- Huth Cornelia
- Hveem Kristian
- Ida Chen Yii Der
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- 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
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1
- Author
- Abecasis Gonçalo R.
- Absher Devin
- Adrienne Cupples L.
- Aherrahrou Zouhair
- Allayee Hooman
- Allione Alessandra
- Altshuler David
- Amin Najaf
- Anand Sonia S.
- Andersen Karl
- Anderson Jeffrey L.
- Angelica Merlini Pier
- Ardissino Diego
- Ardlie Kristin
- Assimes Themistocles L.
- Aulchenko Yurii S.
- Baas Annette F.
- Badger Stephen A.
- Balkau Beverley
- Ball Stephen G.
- Balmforth Anthony J.
- Bandinelli Stefania
- Barbalic Maja
- Barnes Timothy A.
- Barroso Inês
- Becker Diane M.
- Becker Lewis C.
- Beckmann Jacques S.
- Benediktsson Rafn
- Bengtsson Boström Kristina
- Bennett Amanda J.
- Berger Klaus
- Berglund Göran
- Bergman Richard N.
- Bingham Sheila A.
- Bis Joshua C.
- Blagieva Roza
- Blair Ross D.
- Blankenberg Stefan
- Blankensteijn Jan D.
- Bochud Murielle
- Boehm Bernhard O.
- Boehnke Michael
- Boerwinkle Eric
- Bonnycastle Lori L.
- Bots Michiel L.
- Bown Matthew J.
- Bradley Declan T.
- Bragi Walters G.
- Braund Peter S.
- Bravenboer Bert
- Brown Morris
- Bumpstead Suzannah
- Burnand Kevin
- Burton Paul R.
- Burtt Noël P.
- Buysschaert Ian
- Cambien Francois
- Campbell Harry
- Carlquist John F.
- Cauchi Stephane
- Caulfield Mark
- Chambers John C.
- Charpentier Guillaume
- Chen Li
- Child Anne H.
- Chines Peter S.
- Cichon Sven
- Clarke Robert
- Clough Rachel E.
- Cockerill Gillian
- Codd Veryan
- Coin Lachlan
- Connell John M.
- Cornelis Marilyn
- Couper David J.
- Crawford Gabe
- Crawford Gabriel J.
- Daly Mark J.
- Davies Robert W.
- de Faire Ulf
- de Graaf Jacqueline
- de Jong Paul E.
- Dedoussis George
- Dehghan Abbas
- Deloukas Panos
- Demissie Serkalem
- Devaney Joseph M.
- Di Gregorio Alessandra
- Diemert Patrick
- Dina Christian
- Do Ron
- Doering Angela
- Dominiczak Anna
- Doney Alex S. F.
- Dupuis Josée
- Döring Angela
- Dörr Marcus
- Edkins Sarah
- Eifert Sandra
- El Mokhtari Nour Eddine
- Elliott Amanda L.
- Elliott Katherine S.
- Elliott Katherine S.
- Elliott Paul
- Ellis Stephen G.
- Elosua Roberto
- Engert James C.
- Epstein Stephen E.
- Erdmann Jeanette
- Erdos Michael R.
- Eriksson Per
- Ernst Florian
- Eyheramendy Susana
- Farrall Martin
- Felix Stephan B.
- Ferreira Teresa
- Ferrucci Luigi
- Fischer Marcus
- Florez Jose C.
- Folkersen Lasse
- Folsom Aaron R.
- Forouhi Nita G.
- Fox Caroline S.
- Franco-Cereceda Anders
- Franklin Christopher S.
- Frayling Timothy M.
- Freimer Nelson B.
- Freyer Jennifer
- Frikke-Schmidt Ruth
- Froguel Philippe
- Futers Simon
- Galan Pilar
- Ganser Martha
- Gateva Vesela
- Gerry Hill B.
- Gieger Christian
- Gigante Bruna
- Girelli Domenico
- Gloyn Anna L.
- Goel Anuj
- Golledge Jonathan
- Goodall Alison H.
- Grallert Harald
- Grarup Niels
- Green Todd
- Gretarsdottir Solveig
- Griffin Simon
- Grobbee Diederick E.
- Groop Leif
- Groves Christopher J.
- Guarrera Simonetta
- Gudnason Vilmundur
- Guiducci Candace
- Gulcher Jeffrey R.
- Gut Ivo G.
- Gwilliam Rhian
- Gyllensten Ulf
- Hadjadj Samy
- Hadley David
- Hafez Hany
- Hall Alistair S.
- Halperin Eran
- Hammond Naomi
- Hamsten Anders
- Hansen Torben
- Harrison Seamus C.
- Hartikainen Anna-Liisa
- Hassanali Neelam
- Hattersley Andrew T.
- Hazen Stanley L.
- Heath Simon C.
- Hengstenberg Christian
- Hercberg Serge
- Herder Christian
- Hide Winston A.
- Hill Andrew A.
- Hitman Graham A.
- Hofman Albert
- Hofmann Oliver M.
- Holm Hilma
- Homuth Georg
- Horne Benjamin D.
- Hu Frank B.
- Hua Zhao Jing
- Hughes Anne E.
- Humphries Steve E.
- Hunt Sarah E.
- Hunter David J.
- Huth Cornelia
- Hveem Kristian
- Illig Thomas
- Iribarren Carlos
- Isomaa Bo
- Jackson Anne U.
- Jarvelin Marjo-Riitta
- Johnson Anne
- Johnson Paul R. V.
- Johnson Toby
- Jones Gregory T.
- Jousilahti Pekka
- Jørgensen Torben
- Kaiser Michael A.
- Kao Wen H. L.
- Kaplan Lee M.
- Kastelein John J. P.
- Kathiresan Sekar
- Khaw Kay-Tee
- Kiemeney Lambertus A.
- Klopp Norman
- Knowles Joshua W.
- Kolovou Genovefa
- Kong Augustine
- Kooner Jaspal S.
- Kraft Peter
- Kuusisto Johanna
- König Inke R.
- Laakso Markku
- Laaksonen Reijo
- Laan Maris
- Lakatta Edward G.
- Lambrechts Diether
- Langenberg Claudia
- Lauritzen Torsten
- Leander Karin
- Lettre Guillaume
- Lewis David R.
- Li Mingyao
- Lieb Wolfgang
- Lieverse Aloysius
- Lim Noha
- Lindgren Cecilia M.
- Lindholt Jes S.
- Loley Christina
- Loos Ruth J. F.
- Lorbeer Roberto
- Lotery Andrew J.
- Lourdes Sampietro M.
- Luan Jian'an
- Luben Robert N.
- Lucas Gavin
- Lyssenko Valeriya
- Mannucci Pier M.
- Maouche Seraya
- Mark Lathrop G.
- Marre Michel
- Marrugat Jaume
- Martinelli Nicola
- Matthiasson Stefan E.
- Matthijs Boekholdt S.
- Matullo Giuseppe
- McArdle Wendy L.
- McCarroll Steve A.
- McCarthy Mark I.
- McCulloch Laura J.
- McKeown Pascal P.
- McNoe Les A.
- McPherson Ruth
- Meigs James B.
- Meisinger Christa
- Meitinger Thomas
- Melander Olle
- Meneton Pierre
- Merriman Tony R.
- Midthjell Kristian
- Mohlke Karen L.
- Mooser Vincent
- Morgan Thomas
- Morken Mario A.
- Morris Andrew D.
- Morris Andrew P.
- Muhlestein Joseph B.
- Munroe Patricia B.
- Musunuru Kiran
- März Winfried
- Mühleisen Thomas W.
- Münzel Thomas
- Nahrstaedt Janja
- Naik Dilip K.
- Najjar Samer S.
- Narisu Narisu
- Navarro Pau
- Navis Gerjan
- Nelson Christopher P.
- Newhouse Stephen J.
- Newton-Cheh Christopher
- Nilsson Peter
- Norman Paul E.
- Numans Mattijs E.
- Nöthen Markus M.
- O'Donnell Christopher J.
- O'Reilly Paul F.
- Olivieri Oliviero
- Onland-Moret N. Charlotte
- Org Elin
- Orho-Melander Marju
- Ouwehand Willem H.
- Owen Katharine R.
- Palmen Jutta
- Palmer Colin N. A.
- Panico Salvatore
- Pankow James S.
- Papadakis Konstantinos
- Patel Riyaz S.
- Patterson Chris C.
- Payne Felicity
- Peden John F.
- Pedersen Oluf
- Peltonen Leena
- Perola Markus
- Perry John R. B.
- Peters Annette
- Petersen Ann-Kristin
- Peyvandi Flora
- Pfeufer Arne
- Platou Carl
- Polidoro Silvia
- Potter Simon
- Pouta Anneli
- Powell Janet T.
- Pramstaller Peter P.
- Preuss Michael
- Proença Christine
- Prokopenko Inga
- Qi Lu
- Qu Liming
- Quertermous Thomas
- Quyyumi Arshed A.
- Rader Daniel J.
- Rallidis Loukianos S.
- Rathmann Wolfgang
- Raychaudhuri Soumya
- Reffelmann Thorsten
- Refstrup Mette
- Reilly Muredach P.
- Rettig Rainer
- Ricceri Fulvio
- Rice Catherine
- Roberts Robert
- Robertson Neil R.
- Rocheleau Ghislain
- Roden Michael
- Romanazzi Valeria
- Rosendaal Frits R.
- Rubin Diana
- Rudan Igor
- Sacerdote Carlotta
- Salomaa Veikko
- Samani Nilesh J.
- Sampson Michael J.
- Sandhu Manjinder S.
- Sanna Serena
- Saxena Richa
- Sayers Robert D.
- Schadt Eric
- Scheet Paul
- Schillert Arne
- Schlessinger David
- Schreiber Stefan
- Schrezenmeir Jürgen
- Schunkert Heribert
- Schwartz Stephen M.
- Schäfer Arne
- Scott D Julian A.
- Scott Laura J.
- Scuteri Angelo
- Seedorf Udo
- Segrè Ayellet V.
- Shields Beverley M.
- Shrader Peter
- Sigurdsson Gunnar
- Sijbrands Eric
- Siscovick David S.
- Sivananthan Mohan
- Sivapalaratnam Suthesh
- Sladek Rob
- Smith Alberto
- Smith Andrew J.
- Smith Tamara B.
- Snieder Harold
- Snoep Jaapjan D.
- Sohrabi Soroush
- Song Kijoung
- Soranzo Nicole
- Sparsø Thomas
- Spector Tim D.
- Spertus John A.
- Stark Klaus
- Stefansson Kari
- Stein Lincoln D.
- Steinthorsdottir Valgerdur
- Stewart Alexandre F. R.
- Stirrups Kathy
- Stoll Monika
- Strachan David P.
- Strassburger Klaus
- Stringham Heather M.
- Subirana Isaac
- Sun Qi
- Susan Burnett Mary
- Swift Amy J.
- Sylvius Nicolas
- Syvänen Ann-Christine
- Tanaka Toshiko
- Teijink Joep A. W.
- Tennstedt Stephanie
- Teumer Alexander
- Thompson John R.
- Thompson Matthew M.
- Thomson Ian A.
- Thorand Barbara
- Thorgeirsson Gudmundur
- Thorleifsson Gudmar
- Thorsteinsdottir Unnur
- Tichet Jean
- Tobin Martin D.
- Tognoni Giovanni
- Tomaszewski Maciej
- Topless Ruth
- Tuomi Tiinamaija
- Tuomilehto Jaakko
- Tybjærg-Hansen Anne
- Uda Manuela
- Uiterwaal Cuno S.
- Uitterlinden Andre
- Uitterlinden Andre G.
- Valle Timo T.
- van Bockxmeer Frank M.
- van Dam Rob M.
- van der Harst Pim
- van der Schouw Yvonne T.
- van Duijn Cornelia M.
- van Gilst Wiek H.
- van Haeften Timon W.
- van Herpt Thijs
- van Hoek Mandy
- van Rij Andre
- van Rij Andre M.
- van Vliet-Ostaptchouk Jana V.
- Vasudevan Thodur M.
- Vicky Phillips L.
- Vineis Paolo
- Voight Benjamin F.
- Vollenweider Peter
- Völker Uwe
- Völzke Henry
- Waeber Gerard
- Wain Louise V.
- Walker Mark
- Wallace Chris
- Waltham Matthew
- Wareham Nicholas J.
- Watanabe Richard M.
- Waterworth Dawn M.
- Watkins Hugh
- Webster John
- Weedon Michael N.
- Welch Ryan P.
- Wells George A.
- Wichmann H-Erich
- Wijmenga Cisca
- Wild John B.
- Wild Philipp S.
- Willenborg Christina
- Willer Cristen J.
- William Rayner N.
- Williams Frances M.
- Wilson Tang W. H.
- Wilson James F.
- Witteman Jaqueline C. M.
- Wouter Jukema J.
- Wright Benjamin J.
- Wu Guanming
- Ye Shu
- Yu Grace
- Yuan Xin
- Zeggini Eleftheria
- Zelenika Diana
- Zeller Tanja
- Zhai Guangju
- Zhang Feng
- Ziegler Andreas
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2011
- Field of study
Abdominal aortic aneurysm (AAA) is a common cause of morbidity and mortality and has a significant heritability. We carried out a genome-wide association discovery study of 1866 patients with AAA and 5435 controls and replication of promising signals (lead SNP with a p value < 1 × 10-5) in 2871 additional cases and 32,687 controls and performed further follow-up in 1491 AAA and 11,060 controls. In the discovery study, nine loci demonstrated association with AAA (p < 1 × 10-5). In the replication sample, the lead SNP at one of these loci, rs1466535, located within intron 1 of low-density-lipoprotein receptor-related protein 1 (LRP1) demonstrated significant association (p = 0.0042). We confirmed the association of rs1466535 and AAA in our follow-up study (p = 0.035). In a combined analysis (6228 AAA and 49182 controls), rs1466535 had a consistent effect size and direction in all sample sets (combined p = 4.52 × 10-10, odds ratio 1.15 [1.10-1.21]). No associations were seen for either rs1466535 or the 12q13.3 locus in independent association studies of coronary artery disease, blood pressure, diabetes, or hyperlipidaemia, suggesting that this locus is specific to AAA. Gene-expression studies demonstrated a trend toward increased LRP1 expression for the rs1466535 CC genotype in arterial tissues; there was a significant (p = 0.029) 1.19-fold (1.04-1.36) increase in LRP1 expression in CC homozygotes compared to TT homozygotes in aortic adventitia. Functional studies demonstrated that rs1466535 might alter a SREBP-1 binding site and influence enhancer activity at the locus. In conclusion, this study has identified a biologically plausible genetic variant associated specifically with AAA, and we suggest that this variant has a possible functional role in LRP1 expression
A Remote Arene-Binding Site on Prostate Specific Membrane Antigen Revealed by Antibody-Recruiting Small Molecules
- Author
- Alexandra Cocleaza
- Andrew X. Zhang
- Anilkumar G.
- Barinka C.
- Barinka C.
- Barinka C.
- Bertozzi C. R.
- Bertozzi C. R.
- Brunger A. T.
- Carlson C.
- Chen Y.
- Cockroft S. L.
- Cockroft S. L.
- Contakes S. M.
- Cyril Barinka
- David A. Spiegel
- Duffy E. M.
- Erlanson D. A.
- Farah F. S.
- Gallivan J. P.
- Grünewald J.
- Grünewald J.
- Guo F.
- Holmes E. H.
- Humblet V.
- Humphrey W.
- Jacek Lubkowski
- Jackson P. F.
- Jayaprakash S.
- Jorgensen W. L.
- Jorgensen W. L.
- Jorgensen W. L.
- Jormalainen S.
- Julien Michel
- Kane R. S.
- Karjalainen K.
- Ke S.
- Klusák V.
- Kozikowski A.
- Kozikowski A. P.
- Krishnamurthy V.
- Krishnamurthy V. M.
- Kularatne S. A.
- Kularatne S. A.
- Li J.
- Lu Y.
- Lu Y.
- Majer P.
- Maung J.
- May J. F.
- Metallo S. J.
- Michaelides M. C.
- Murelli R. P.
- Naicker K. P.
- Olson W. C.
- Ortega E.
- Ortega E.
- Owen R. M.
- O’Reilly M. K.
- Parker C. G.
- Parker C. W.
- Perdomo M. F.
- Pomper M. G.
- Popkov M.
- Rader C.
- Repasky M. P.
- Ryan P. Murelli
- Shokat K. M.
- Slusher B. S.
- Tsukamoto T.
- Wang H.
- William L. Jorgensen
- Zhou J.
- Publication venue
- 'American Chemical Society (ACS)'
- Publication date
- 15/09/2010
- Field of study
Prostate specific membrane antigen (PSMA) is a membrane-bound glutamate carboxypeptidase overexpressed in many forms of prostate cancer. Our laboratory has recently disclosed a class of small molecules, called ARM-Ps (antibody-recruiting molecule targeting prostate cancer) that are capable of enhancing antibody-mediated immune recognition of prostate cancer cells. Interestingly, during the course of these studies, we found ARM-Ps to exhibit extraordinarily high potencies toward PSMA, compared to previously reported inhibitors. Here, we report in-depth biochemical, crystallographic, and computational investigations which elucidate the origin of the observed affinity enhancement. These studies reveal a previously unreported arene-binding site on PSMA, which we believe participates in an aromatic stacking interaction with ARMs. Although this site is composed of only a few amino acid residues, it drastically enhances small molecule binding affinity. These results provide critical insights into the design of PSMA-targeted small molecules for prostate cancer diagnosis and treatment; more broadly, the presence of similar arene-binding sites throughout the proteome could prove widely enabling in the optimization of small-molecule–protein interactions
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar M.S.
- Abdel-Aziz M.
- Abdelrazik M.
- Abdollahi H.
- Abdullah T.
- Abecasis G.R.
- Abecasis G.R.
- Abedalthagafi M.
- Abel L.
- Abernathy C.
- Abraheem A.
- Abul-Husn N.S.
- Acquilini D.
- Adams C.
- Adams E.L.
- Adams K.
- Adamsara A.
- Adanini O.
- Adeleye O.
- Adra D.
- Afilalo J.
- Afilalo M.
- Afolabi D.
- Afrasiabi Z.
- Agasou A.
- Agrawal S.
- Agüero D.
- Ahmad N.
- Ahmadi S.
- Ahmed A.
- Ahmed C.
- Akeroyd L.
- Akhtar M.N.
- Akinkugbe O.
- Aksentijevich A.
- Al Harthi F.
- Al Mutairi A.
- Al-Afghani H.
- Al-Awdah L.
- Alaamery M.
- Alahmadey Z.Z.
- Alaverdian D.
- Alavere H.
- Albader A.
- Albaiceta G.M.
- Albakri J.K.
- AlBardis H.
- Albeladi M.
- Albesher N.
- Albrich W.
- AlDhawi N.
- Aldridge J.
- Aleagha A.E.
- Alexander P.
- Alfonso J.
- Alghamdi B.
- Alghamdi J.
- Ali A.
- Ali A.
- Ali I.A.M.
- Ali S.
- Aliannejad R.
- Aljawini N.
- AlJohani S.
- Alkwai S.
- Allan A.
- Allan E.
- Allan J.
- Alldis Z.
- Allen L.
- Allen M.
- Allen S.
- Allibone S.
- Allison K.S.
- Allos R.
- Almaden-Boyle C.
- AlMalik A.
- Almalki F.
- Almohammed I.
- Almutairi M.
- Alotaibi S.
- Alowayn A.M.
- Alqahtani S.
- Alqubaishi F.
- Alrashed M.
- Alshareef A.
- Alsolm E.
- Alswailm M.
- Altabaibeh A.
- Alvaro A.
- AlZahrani D.
- Amin V.
- Amirsavadkouhi A.
- Amitrano S.
- Anastasescu E.
- Anderson F.
- Anderson J.
- Anderson M.
- Anderson P.
- Anderson S.
- Anderson S.
- Anderson T.
- Andolfo I.
- Andretta F.
- Andreucci E.
- Andrew A.
- Andrew B.
- Andrew G.
- Andrews E.
- Andrews S.J.
- Anedda F.
- Anemoli V.
- Annis A.
- Antcliffe D.
- Antinori A.
- Antoni M.D.
- Anumakonda V.
- Apetri E.
- Aquino M.
- Arabi Y.M.
- Aravindan L.
- Arbane G.
- Archer K.
- Arden T.
- Arias S.S.
- Arif S.
- Armstrong J.
- Armstrong L.
- Armstrong R.
- Arning N.
- Arnold S.
- Arranz M.J.
- Arribas E.
- Artuso R.
- Arumugam P.
- Arumugam P.
- Ascolillo S.
- Ashraf S.
- Ashton L.
- Aslibekyan S.
- Astin-Chamberlain R.
- Atkinson E.G.
- Attwood B.
- Aucella F.
- Auld D.
- Auld F.
- Austin K.
- Austin P.
- Auton A.
- Ayers A.
- Azarzar S.
- Bachetti T.
- Baikady R.R.
- Baillie J.K.
- Baillie J.K.
- Baillie J.K.
- Baines B.
- Baines D.
- Baines K.
- Baird Y.
- Bakthavatsalam D.
- Balaconis M.K.
- Baldassarri M.
- Ball C.A.
- Baltzell A.H.
- Bamford A.
- Bamford P.
- Banach D.
- Bancroft H.
- Band G.
- Bandini M.
- Bandla N.
- Bano S.
- Baptista D.
- Barakeh D.
- Baras A.
- Baras A.
- Baratti S.
- Barber R.
- Barberis L.
- Barberis L.
- Barbieri C.
- Barclay L.
- Bargagli E.
- Barhoush E.
- Barker J.
- Barnes K.C.
- Baroni S.
- Barrett F.
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- Zguro K.
- Zhang M.
- Zhao J.H.
- Zheng C.
- Zhou W.
- Zitter L.
- Zlatopolsky M.
- Zongo O.
- Zucchi P.
- Zyndorf M.
- Zöllner S.
- Åsvold B.O.
- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 07/07/2022
- Field of study
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genes—including reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)—in critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
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