55 research outputs found
Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function
- Author
- Adam Martin
- Andrews Jeanette S.
- Aspelund Thor
- Atkinson Elizabeth J.
- Aulchenko Yurii S.
- Bergmann Sven
- Biffar Reiner
- Boban Mladen
- Bochud Murielle
- Boerwinkle Eric
- Borecki Ingrid B.
- Buckley Brendan M.
- Böger Carsten A.
- Campbell Harry
- Cavalieri Margherita
- Chasman Daniel I.
- Chen Ming-Huei
- Chu Audrey Y.
- Ciullo Marina
- Coassin Stefan
- Colhoun Helen
- Coresh Josef
- Cornelis Marilyn C.
- Curhan Gary C.
- de Andrade Mariza
- Dehghan Abbas
- Demirkan Ayse
- Deshmukh Harshal
- Ding Jingzhong
- Doney Alex
- Eiriksdottir Gudny
- Ellinghaus David
- Endlich Karlhans
- Ernst Florian
- Esko Tõnu
- Feitosa Mary F.
- Ferrucci Luigi
- Ford Ian
- Foster Meredith C.
- Fox Caroline S.
- Franke Andre
- Freedman Barry I.
- Fuchsberger Christian
- Gao Xiaoyi
- Gasparini Paolo
- Gieger Christian
- Gierman Hinco J.
- Giulianini Franco
- Glazer Nicole
- Gorski Mathias
- Gudnason Vilmundur
- Gyllensten Ulf
- Harris Tamara B.
- Hastie Nick
- Haun Margot
- Hayward Caroline
- Heid Iris M.
- Helmer Catherine
- Hofman Albert
- Holliday Elizabeth G.
- Homuth Georg
- Hu Frank
- Hundertmark Claudia
- Hwang Shih-Jen
- Igl Wilmar
- Illig Thomas
- Imboden Medea
- Isaacs Aaron
- Jacobs Gunnar
- Johansson Åsa
- Johnson Andrew D.
- Jukema J. Wouter
- Kao W.H. Linda
- Kardia Sharon L.R.
- Ketkar Shamika
- Kim Stuart K.
- Koenig Wolfgang
- Kovacs Peter
- Kroemer Heyo K.
- Kronenberg Florian
- Krämer Bernhard K.
- Kutalik Zoltan
- Kähönen Mika
- Köttgen Anna
- Lambert Jean-Charles
- Launer Lenore J.
- Lehtimäki Terho
- Li Guo
- Li Man
- Liu Ching-Ti
- Liu Yongmei
- Lohman Kurt
- Meisinger Christa
- Metspalu Andres
- Minelli Cosetta
- Mitchell Braxton D.
- Mitchell Paul
- Murgia Federico
- Mägi Reedik
- Nauck Matthias
- Nikopensius Tiit
- Nöthlings Ute
- O'Connell Jeffrey R.
- O'Seaghdha Conall M.
- Olden Matthias
- Oostra Ben A.
- Palmer Colin
- Parsa Afshin
- Pattaro Cristian
- Paulweber Bernhard
- Pirastu Mario
- Pistis Giorgio
- Polasek Ozren
- Portas Laura
- Pramstaller Peter P.
- Probst-Hensch Nicole M.
- Prokopenko Inga
- Province Michael
- Raitakari Olli
- Rao Madhumathi
- Rettig Rainer
- Ridker Paul M.
- Rivadeneira Fernando
- Robino Antonietta
- Rudan Igor
- Ruggiero Daniela
- Sala Cinzia
- Schmidt Helena
- Schmidt Reinhold
- Shuldiner Alan R.
- Siscovick David S.
- Smith Albert V.
- Sorice Rossella
- Stengel Bénédicte
- Stracke Sylvia
- Struchalin Maksim
- Stumvoll Michael
- Taliun Daniel
- Tanaka Toshiko
- Teumer Alexander
- Thun Gian-Andri
- Tin Adrienne
- Toniolo Daniela
- Trompet Stella
- Turner Stephen T.
- Tönjes Anke
- Uitterlinden Andre G.
- Ulivi Sheila
- van Duijn Cornelia M.
- Viikari Jorma
- Vitart Veronique
- Vollenweider Peter
- Völker Uwe
- Völzke Henry
- Wang Jie Jin
- Wheeler Heather E.
- Wild Sarah H.
- Wilson James F.
- Witteman Jacqueline
- Wright Alan F.
- Yang Qiong
- Zaboli Ghazal
- Zemunik Tatijana
- Zgaga Lina
- Publication venue
- Publication date
- 02/08/2017
- Field of study
In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we developed a strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium. Our strategy focuses on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eGFR associations. It then requires association thresholds consistent with multiple testing, and finally evaluates novel candidates by independent replication. Among the samples of European ancestry, we identified a genome-wide significant SNP in FBXL20 (P = 5.6 × 10−9) in meta-analysis of all available data, and additional SNPs at the INHBC, LRP2, PLEKHA1, SLC3A2 and SLC7A6 genes meeting multiple-testing corrected significance for replication and overall P-values of 4.5 × 10−4-2.2 × 10−7. Neither the novel PLEKHA1 nor FBXL20 associations, both further supported by association with eGFR among African Americans and with transcript abundance, would have been implicated by eGFR candidate gene approaches. LRP2, encoding the megalin receptor, was identified through connection with the previously known eGFR gene DAB2 and extends understanding of the megalin system in kidney function. These findings highlight integration of existing genome-wide association data with independent biological knowledge to uncover novel candidate eGFR associations, including candidates lacking known connections to kidney-specific pathways. The strategy may also be applicable to other clinical phenotypes, although more testing will be needed to assess its potential for discovery in genera
Genome-wide association and functional follow-up reveals new loci for kidney function
- Author
- A Cohen
- A Kottgen
- A Kottgen
- A Meguid El Nahas
- Aaron Isaacs
- Abbas Dehghan
- AD Johnson
- Adrienne Tin
- Afshin Parsa
- AG Kramer-Zucker
- AL Dixon
- Alan F. Wright
- Alan R. Shuldiner
- Albert Hofman
- Albert V. Smith
- Alex Doney
- Alexander Teumer
- Andre Franke
- Andre G. Uitterlinden
- Andres Metspalu
- Andrew D. Johnson
- Angela Döring
- Anke Tönjes
- Anna Köttgen
- Antonietta Robino
- AS Dimas
- AS Levey
- AS Levey
- Audrey Y. Chu
- Ayse Demirkan
- B Devlin
- Barbara Kollerits
- Barry I. Freedman
- BC Astor
- BE Stranger
- Ben A. Oostra
- Bernhard K. Krämer
- Bernhard Paulweber
- Braxton D. Mitchell
- Brendan M. Buckley
- C Fuchsberger
- C Pattaro
- CA Boger
- Caroline Hayward
- Caroline S. Fox
- Carsten A. Böger
- Catherine Helmer
- Ching-Ti Liu
- Christian Fuchsberger
- Cinzia Sala
- CJ Willer
- Claudia Hundertmark
- Colin Palmer
- Conall M. O'Seaghdha
- Cornelia M. van Duijn
- Cosetta Minelli
- Cristian Pattaro
- CS Fox
- CT Liu
- Daniel I. Chasman
- Daniel Taliun
- Daniela Ruggiero
- Daniela Toniolo
- David Ellinghaus
- David S. Siscovick
- DF Gudbjartsson
- DM Greenawalt
- DM Hentschel
- DM Hentschel
- E Grundberg
- E Imai
- EE Schadt
- EL Heinzen
- Elizabeth G. Holliday
- Elizabeth J. Atkinson
- Eric Boerwinkle
- F Schwartz
- Federico Murgia
- Fernando Rivadeneira
- Florian Ernst
- Florian Kronenberg
- Franco Giulianini
- Frank B. Hu
- G Gobe
- GA Heap
- Gary C. Curhan
- GB Ehret
- GE Rodwell
- Georg Homuth
- Ghazal Zaboli
- Gian-Andri Thun
- Giorgio Pistis
- Greg Gibson
- Gudny Eiriksdottir
- Gunnar Jacobs
- Guo Li
- H Schunkert
- H.-Erich Wichmann
- Harry Campbell
- Harshal Deshmukh
- HE Wheeler
- Heather E. Wheeler
- Helen Colhoun
- Helena Schmidt
- Henry Völzke
- Heyo K. Kroemer
- HH Goring
- Hinco J. Gierman
- I Pe'er
- IA Drummond
- Ian Ford
- Igor Rudan
- Inga Prokopenko
- Ingrid Borecki
- Iris M. Heid
- Ivana Kolcic
- J Coresh
- J Coresh
- J Ding
- J. Wouter Jukema
- JA Webster
- Jacqueline C. M. Witteman
- James F. Wilson
- JC Chambers
- JD Storey
- Jeanette S. Andrews
- Jeffrey R. O'Connell
- Jie Jin Wang
- Jingzhong Ding
- Jorma Viikari
- Josef Coresh
- JP Higgins
- Karlhans Endlich
- Kurt Lohman
- LA Allan
- LA Stevens
- Laura Portas
- Lenore J. Launer
- Luigi Ferrucci
- M van der Velde
- Madhumathi Rao
- Maija Garnaas
- Maksim Struchalin
- Man Li
- Margherita Cavalieri
- Margot Haun
- Marie Metzger
- Marilyn C. Cornelis
- Marina Ciullo
- Mario Pirastu
- Mariza de Andrade
- Martin Adam
- Mary Feitosa
- Mathias Gorski
- Matthias Nauck
- Matthias Olden
- Medea Imboden
- Meredith C. Foster
- Michael Province
- Michael Stumvoll
- Mika Kähönen
- Ming-Huei Chen
- Mladen Boban
- Murielle Bochud
- Nick Hastie
- Nicole Glazer
- Nicole M. Probst-Hensch
- Olli Raitakari
- Ozren Polasek
- Paolo Gasparini
- Paul Mitchell
- Paul Ridker
- Peter Kovacs
- Peter P. Pramstaller
- Peter Vollenweider
- Qiong Yang
- R Tyagi
- RA Wingert
- Rainer Rettig
- Reedik Mägi
- Reiner Biffar
- Reinhold Schmidt
- RJ Pruim
- Rossella Sorice
- RT Gansevoort
- S Sidi
- Sarah H. Wild
- Shamika Ketkar
- Sharon L. R. Kardia
- Sheila Ulivi
- Shih-Jen Hwang
- Stella Trompet
- Stephen T. Turner
- Stuart K. Kim
- Sven Bergmann
- Sylvia Stracke
- T Kwan
- T Zeller
- Tamara B. Harris
- Tatijana Zemunik
- Terho Lehtimäki
- Thomas Illig
- Thor Aspelund
- Tiit Nikopensius
- Toshiko Tanaka
- Tõnu Esko
- Ulf Gyllensten
- Ute Nöthlings
- Uwe Völker
- V Emilsson
- Veronique Vitart
- Vilmundur Gudnason
- Vincent Chouraki
- W. H. Linda Kao
- Wilmar Igl
- Wolfgang Koenig
- Wolfram Goessling
- Xiaoyi Gao
- Y Idaghdour
- Yongmei Liu
- Yurii S. Aulchenko
- Zoltan Kutalik
- Åsa Johansson
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- 01/01/2012
- Field of study
Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD
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
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- Kardia SL
- Kathiresan S
- Kathiresan S
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- 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
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- 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
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- 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
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- 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
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- Lieb W
- Lightstone L
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- 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
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- Lundmark P
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- 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
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- McPherson R
- Medack A
- Meinitzer A
- Meisinger C
- Meisinger C
- Meitinger T
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- Melander O
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- 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
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- Muir D
- Munroe PB
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- 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
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- 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
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- Shuldiner AR
- Shuldiner AR
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- Singleton Andrew
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- Snieder Harold
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- Spector Tim D.
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- Taylor Kent D.
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- Teumer A
- Thompson JR
- Thompson JR
- Thompson JR
- Thorgeirsson G
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- Thorleifsson Gudmar
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- Ulivi Sheila
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- van Duijn C
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- van Duijn CM
- van Rijn MJ
- Vasan RS
- Vasan RS
- Vasan RS
- Vasan Ramachandran S.
- Verwoert GC
- Verwoert Germaine C.
- Viikari Jorma
- Vita JA
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- Vitart Veronique
- Voight BF
- Voight BF
- Voight Benjamin F
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- Vollenweider Peter
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- Völker Uwe
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- Waeber G
- Waeber Gérard
- Wagner AK
- Wain Louise V.
- Waksman R
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- Wallace C
- Wang TJ
- Wang TJ
- Wang W
- Wang Thomas J.
- Wareham NJ
- Wareham Nicholas J.
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- 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
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- Zgaga L
- Zhang W
- Zhang Feng
- Zhang Weihua
- Zhao Jing Hua
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- 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
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
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- Bielak Lawrence F
- Bierut Laura J
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- Blangero John
- Blankenberg Stefan S
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- Boban Mladen
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- Braund Peter S
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- Brody Jennifer
- Broekmans Frank J
- Broer Linda
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- Brown Morris J
- Brown-Gentry Kristin
- Bruinenberg Marcel
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- Buckley Brendan M
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- Burnett Mary S
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- Caulfield Mark
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- Hoffmann Wolfgang
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- Imboden Medea
- Ingelsson Erik
- Ingle Catherine
- Ingvarsson Thorvaldur
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- Iribarren Carlos
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- Mahajan Anubha
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- McCloskey Eugene
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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
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
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- Barbaria Joseph A.
- Barbe Valérie
- Bardill Simon
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- Barker Darren
- Barker Gary
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- 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
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- Becker Michael
- Bell Emma
- Bell George I.
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- Bellerby Damian
- Bellerby Tristram
- Belter Edward A., Jr.
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- 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
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- Blazej Robert
- Blitshsteyn Berta
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- 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
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- Brown Margaret
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- Brown Nancy C.
- Bruce David D.
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- Bruskiewich Richard
- Bryant Jackie
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- Bryant Nathaniel P.
- Brüls Thomas
- Buatsi Delali
- Buck David
- Buckingham Judith M.
- Buckle Veronica
- Buczek Donald
- Budd Claire
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- 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
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- 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
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- Colayco Rick
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- Courtney Laura P.
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- Cox Anthony
- Cox Caroline D.
- Cox Tony
- Coxhill Robert
- Coyle Marcus D.
- Craig Matthew
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- Crawley Matt
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- Cuomo Christina A.
- Curran Adam
- Curwen Valery
- Cutts Jeffrey
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- D\u27Souza Lisa Marie
- Da Silva Corinne
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- Dathorne Stephanie R.
- Daum Christopher
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- Dawson Elisabeth
- De Anda Claudia
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- DeArellano Kurt
- Deaven Larry I.
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- Krawczyk Marie-Claude
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- Kremmidiotis Gabriel
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- Kruchowski Scott S.
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- 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
Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world
- Author
- Abad Pedro
- Abbara Suhny
- Abbasi Taimur
- Abbott Brian
- Abdel Aziz Islam Shawky
- Abdulla Jawdat
- Abikhzer Gad
- Abohashem Shady
- Abougabal Mahasen
- Abramson Sandra
- Abrihan Paz
- Acuña Arturo Romero
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- Stefanelli Antonella
- Steffensen Rolf
- Strada Bruno
- Streeter James
- Strouhal Peter
- Stuart Murch
- Stubbs Michael
- Subedi Deepak
- Sueldo Claudio Pereyra
- Sun Kai
- Suwa Yoshinobu
- Swainson Ian
- Syawaluddin Hilman
- Syed Ghulam
- Szilveszter Balint
- T Albert
- Tacher Vania
- Tag Naima
- Takanami Kentaro
- Takehana Kazuya
- Taki Junichi
- Taleb Sara
- Tamaki Nagara
- Tandon Vikas
- Tang Gongshun
- Tang Jeanelle Margareth
- Taniguchi Yasuyo
- Taubman Kim
- Tawakol Ahmed
- Taylor Andrew
- Tecson Bettina
- Teragawa Hiroki
- Theng Youdaline
- Thientunyakit Tanyaluck
- Thimister Paul
- Thomas Dustin
- Thomas Paul
- Thomassen Anders
- Thompson Randall
- Thu Phyo Si
- To Andrew
- Tomas Miguel Santaularia
- Tomizawa Nobuo
- Topping William
- Torbet Tara
- Torreao Jorge
- Torres Rafael
- Traverso Sonia
- Traverzo Sonia Simona
- Trifonova Tatjana
- Trinidad Desiree
- Trivedi Adwait
- Tsujita Kenichi
- Tweed Katharine
- Udugama Chandraguptha
- Uellendahl Marly
- Ullery Shawn
- Umeji Kyoko
- Unger Steven
- Unzek Samuel
- Upton Anthony
- Uretsky Seth
- Uson Kristine Joy
- Ussov Wladimir Yurievich
- Uusitalo Valtteri
- Uy Mila
- Vajauskas Donatas
- Vakhromeeva Margarita
- Valiullina Nailya
- Vallejo Enrique
- Valles Mario
- Vallurupalli Srikanth
- Vallée Jean-Paul
- Valsamaki Pipitsa
- Vamadevan Shankar
- Van Asperen Erik-Jan
- Van De Heyning Caroline M.
- Van Gaal William
- Van Pelt Niels
- Vangu Mboyo
- Vargas Luis Salazar
- Vasquez Andres
- Vavlukis Marija
- Velez Mayra Sanchez
- Veltman Niels
- Ventroni Guido
- Vergel Damiana
- Verjans Johan
- Verma Atul
- Verma Vikas
- Verschure Derk
- Veríssimo Otávia
- Villines Todd C.
- Villines Todd C.
- Vitola Joao V.
- Vitola Joao V.
- Vondrak Andrej
- Voutnis Demetrius
- Vuuren Magritha Jv
- Várady Edit
- Vázquez Manuel Castillo
- Wagenaar Nils
- Wakabayashi Yasushi
- Waller Alfonso
- Waltrick Roberto
- Wang Ellen
- Wang Jian
- Wang Ximing
- Wang Yifan
- Wang Yining
- Wang Zhao-Qian
- Ward Parker
- Wayne Victor
- Weihmuller Juan Sebastian
- Weir-Mccall Jonathan
- Weiss Konrad
- Weissman Gaby
- Wesbey George
- White James
- White Kelly
- Williams Michelle C.
- Williams Michelle C.
- Wilson Peter
- Winchester David
- Winchester David
- Wolcan Juan
- Wolinsky David
- Won Kyoung Sook
- Wong David
- Wong Kirby
- Wu Jiang
- Wu Zhifang
- Xia Liming
- Xiao Jiangxi
- Xu Lei
- Xu Zhuoran
- Yamada Shinichiro
- Yamazaki Shinya
- Yang Youyou
- Yew Min Sen
- Yin Wu
- Yoneyama Tatsuya
- Yost Sandra
- Young Calum
- Younger John
- Younis Muhammad Numair
- Yu Jianqun
- Yuan Li
- Zaid Eed Abu
- Zakavi Seyed Rasoul
- Zapparoli Marcello
- Zavadovsky Konstantin
- Zeffiro Susana
- Zeidán Nahla
- Zerahn Bo
- Zgaljardic Michael
- Zhang Longjiang
- Zhang Tong
- Zhang Xiaoli
- Zhang Yong-Gao
- Zhu Li
- Zhuravlev Kirill
- Zoboli Stefania
- Zukotynski Katherine
- Zuluaga Alejandro
- Øvrehus Kristian Altern
- Štalc Monika
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2021
- Field of study
Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic.
Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality.
Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States.
Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis.
Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection
1000 Genomes-based metaanalysis identifies 10 novel loci for kidney function
- Author
- Aspelund T. (Thor)
- Attia J. (John)
- Biffar R. (Reiner)
- Bochud M. (Murielle)
- Boerwinkle E. (Eric)
- Borecki I.B. (Ingrid)
- Bottinger E.P. (Erwin)
- Böger C.A. (Carsten)
- Chasman D.I. (Daniel)
- Chen M.-H. (Ming-Huei)
- Chouraki V. (Vincent)
- Chu A.Y. (Audrey Y)
- Ciullo M. (Marina)
- Cocca M. (Massimiliano)
- Coresh J. (Josef)
- Cornelis M. (Marilyn)
- Curhan G.C. (Gary)
- D'Adamo A.P. (Adamo Pio)
- De Borst M.H. (Martin H.)
- Dehghan A. (Abbas)
- Dengler L. (Laura)
- Ding J. (Jingzhong)
- Eiriksdottir G. (Gudny)
- Endlich K. (Karlhans)
- Enroth S. (Stefan)
- Esko T. (Tõnu)
- Feitosa M.F.
- Fox C.S. (Caroline)
- Franco O.H. (Oscar H.)
- Fuchsberger C. (Christian)
- Gasparini P. (Paolo)
- Gieger C. (Christian)
- Girotto S.
- Gomez F. (Felicia)
- Gorski M. (Mathias)
- Gottesman O. (Omri)
- Gudnason V. (Vilmundur)
- Gyllensten U. (Ulf)
- Hancock S.J. (Stephen J.)
- Harris T.B. (Tamara)
- Heid I.M. (Iris)
- Helmer C. (Catherine)
- Hofer E. (Edith)
- Hofman A. (Albert)
- Holliday E.G. (Elizabeth)
- Homuth G. (Georg)
- Hu F.B. (Frank)
- Huth C. (Cornelia)
- Hutri-Kähönen N. (Nina)
- Hwang S.-J. (Shih-Jen)
- Höllerer S. (Simon)
- Imboden M. (Medea)
- Johansson A. (Åsa)
- Kramer H. (Holly)
- Krämer B.K. (Bernhard)
- Kumar A. (Ashish)
- Kutalik Z. (Zoltán)
- Kähönen M. (Mika)
- König W. (Wolfgang)
- Köttgen A. (Anna)
- Lambert J.-C. (J.)
- Launer L.J. (Lenore)
- Lehtimäki T. (Terho)
- Li M. (Man)
- Li Y. (Yong)
- Liu Y. (YongMei)
- Lohman K. (Kurt)
- Loos R.J.F. (Ruth)
- Lu Y. (Yingchang)
- Lyytikäinen L.-P. (Leo-Pekka)
- McEvoy M. (Mark)
- Meisinger C. (Christa)
- Meitinger T. (Thomas)
- Metspalu A. (Andres)
- Metzger M. (Marie)
- Mihailov E. (Evelin)
- Mijatovic V. (Vladan)
- Mitchell P. (Paul)
- Most P.J. (Peter) van der
- Nauck M. (Matthias)
- Navis G. (Gerjan)
- Nolte I.M. (Ilja)
- Oldehinkel A.J. (Albertine)
- Olden M. (Matthias)
- Penninx B.W.J.H.
- Penninx B.W.J.H. (Brenda)
- Pistis G. (Giorgio)
- Pramstaller P.P. (Peter P.)
- Probst-Hensch N.M. (Nicole M.)
- Raitakari O.T. (Olli T.)
- Rettig R. (Rainer)
- Ridker P.M. (Paul)
- Rivadeneira F. (Fernando)
- Robino A. (Antonietta)
- Rosas S.E. (Sylvia E.)
- Ruderfer D. (Douglas)
- Ruggiero D.
- Saba Y. (Yasaman)
- Sala C. (Cinzia)
- Schmidt H. (Helena)
- Schmidt R. (Reinhold)
- Scott R.J. (Rodney J.)
- Sedaghat S. (Sanaz)
- Smith A.V. (Albert)
- Snieder H. (Harold)
- Sorice R.
- Stengel B. (Bernd)
- Stracke S. (Sylvia)
- Strauch K. (Konstantin)
- Swertz M. (Morris)
- Taliun D. (Daniel)
- Tayo B. (Bamidele)
- Teumer A. (Alexander)
- Tin A. (Adrienne)
- Toniolo D. (Daniela)
- Tromp G. (Gerard)
- Uitterlinden A.G. (André)
- Ulivi S. (Sheila)
- Viikari J. (Jorma)
- Vollenweider P. (Peter)
- Vuckovic D. (Dragana)
- Völker U. (Uwe)
- Völzke H. (Henry)
- Waldenberger M. (Melanie)
- Wang J.J. (Jie Jin)
- Yang Q. (Qiong Fang)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2017
- Field of study
HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-Analysis of kidney function based on the estimated glomerular filtration rate (EGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10-8 previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, wh
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
- Author
- Aaron Folsom
- Aaron Isaacs
- Abbas Dehghan
- Adebowale Adeyemo
- Adrienne Tin
- Afshin Parsa
- Aida Karina Dieffenbach
- Alan B. Weder
- Alan B. Zonderman
- Alan F. Wright
- Alan Go
- Alan R. Shuldiner
- Alanna C. Morrison
- Albert Hofman
- Albert V. Smith
- Albert W. Dreisbach
- Alena Stancakova
- Alex N. Parker
- Alexander Teumer
- Alexandre F. R. Stewart
- Alistair Hall
- Amy J. Swift
- Anders Hamsten
- Andre Franke
- Andre G. Uitterlinden
- Andreas Meinitzer
- Andreas Tomaschitz
- Andreas Ziegler
- Andres Metspalu
- Andrew A. Hicks
- Andrew D. Johnson
- Andrew Plump
- Andrew Singleton
- Andrew Taylor
- Andrew Wong
- Angela Doering
- Angelo Scuteri
- Anika Grosshennig
- Anja Medack
- Anke Tonjes
- Anna F. Dominiczak
- Anna Köttgen
- Anna Maria Corsi
- Anna-Liisa Hartikainen
- Anne U. Jackson
- Annette Peters
- Annika Rosengren
- Anthony J. Balmforth
- Antonietta Robino
- Antonio Lupo
- Anuj Goel
- Aravinda Chakravarti
- Arne Schillert
- Arnika K. Wagner
- Aroon D. Hingorani
- Asif Rasheed
- Atsushi Takahashi
- Aude Saint-Pierre
- Audrey Y. Chu
- Augustine Kong
- Augusto D. Pichard
- Ayo Doumatey
- Ayse Demirkan
- Bamidele Tayo
- Barbara Kollerits
- Barbara Ludwig
- Barry I. Freedman
- Belen Ponte
- Ben A. Oostra
- Benedicte Stengel
- Benjamin F. Voight
- Benjamin J. Wright
- Bernhard K. Krämer
- Bernhard O. Böhm
- Bernhard Paulweber
- Bernhard R. Winkelmann
- Bo Hedblad
- Bok-Ghee Han
- Braxton D. Mitchell
- Brenda W. Penninx
- Brendan M. Buckley
- Bruce M. Psaty
- Bruno H. Stricker
- Candace Guiducci
- Carl D. Langefeld
- Carl G. P. Platou
- Carlos Iribarren
- Carmen A. Peralta
- Carole Proust
- Caroline Hayward
- Caroline S. Fox
- Carsten A. Böger
- Catherine Helmer
- Charles N. Rotimi
- Charles S. Janipalli
- Chien-Hsiun Chen
- Chittaranjan S. Yajnik
- Christa Meisinger
- Christian Fuchsberger
- Christian Gieger
- Christian Hengstenberg
- Christian M. Shaffer
- Christian Müller
- Christina Loley
- Christina Willenborg
- Christoph Bickel
- Christoph Sinning
- Christopher J. O’Donnell
- Christopher Newton-Cheh
- Christopher P. Nelson
- Christopher W. Knouff
- Cinzia Sala
- Claire Perret
- Colin A. McKenzie
- Cornelia M. van Duijn
- Cristian Pattaro
- Cristiano Fava
- Cuno S. P. M. Uiterwaal
- D. G. Vinay
- Dabeeru C. Rao
- Daehee Kang
- Dag S. Thelle
- Dan E. Arking
- Daniel Ackermann
- Daniel I. Chasman
- Daniel J. Rader
- Daniel Levy
- Daniel Shriner
- Daniel Taliun
- Daniela Ruggiero
- Daniela Toniolo
- Daniele Cusi
- Danish Saleheen
- Darina Czamara
- David Altshuler
- David Couper
- David Ellinghaus
- David Hadley
- David P. Strachan
- David S. Siscovick
- Dawn M. Waterworth
- Debbie A. Lawlor
- Dena Hernandez
- Devin Absher
- Diana Kuh
- Diana Zelenika
- Diederick E. Grobbee
- Dongfeng Gu
- Donna K. Arnett
- Dorairajan Prabhakaran
- Douglas Ruderfer
- E-Shyong Tai
- Edward G. Lakatta
- Elena Rochtchina
- Elin Org
- Elizabeth G. Holliday
- Elizabeth J. Atkinson
- Emelia Benjamin
- Eran Halperin
- Eric Boerwinkle
- Eric J. G. Sijbrands
- Erik Ingelsson
- Erika Salvi
- Erkki Vartiainen
- Ervin R. Fox
- Erwin P. Bottinger
- Eva Albrecht
- Eva Brand
- Ewa Zukowska-Szczechowska
- F. Gerald R. Fowkes
- Fadi J. Charchar
- Federico Murgia
- Feng Zhang
- Fernando Rivadeneira
- Florian Ernst
- Florian Kronenberg
- Francesco U. S. Mattace-Raso
- Francis S. Collins
- Francois Cambien
- Frank B. Hu
- Fredrik Nyberg
- Fulvio Ricceri
- Fumihiko Takeuchi
- Fuu-Jen Tsai
- Gang Shi
- Gary C. Curhan
- Gary F. Mitchell
- Gavin Lucas
- Georg Homuth
- George A. Wells
- George B. Ehret
- George Davey Smith
- Gerjan J. Navis
- Germaine C. Verwoert
- Gian-Andri Thun
- Gina Hilton
- Giorgio Pistis
- Giovanni Gambaro
- Giovanni Malerba
- Giriraj R. Chandak
- Giuseppe Matullo
- Goncalo R. Abecasis
- Grant W. Montgomery
- Guangju Zhai
- Gudmar Thorleifsson
- Gudmundur Thorgeirsson
- Gudny Eiriksdottir
- Gudrun Veldre
- Gunnar Jacobs
- Guo Li
- H-Erich Wichmann
- Haidong Zhu
- Hakon H. Hakonarson
- Halit Ongen
- Hans J. Rupprecht
- Hao Mei
- Harald Dobnig
- Harald Grallert
- Harold Snieder
- Harry Campbell
- Heather M. Stringham
- Helena Schmidt
- Henri Wallaschofski
- Henry Völzke
- Heribert Schunkert
- Hermann Brenner
- Heyo K. Kroemer
- Hilma Holm
- Hirotsugu Ueshima
- Holly Kramer
- Honghuang Lin
- Hua Tang
- Hubert Scharnagl
- Hugh Watkins
- Hyung-Lae Kim
- I. Mateo Leach
- Ian Ford
- Ian H. de Boer
- Ian N. M. Day
- Ida Yii-Der Chen
- Idris Guessous
- Iftikhar Kullo
- Igor Rudan
- Ilja M. Nolte
- Ines Barroso
- Inga Prokopenko
- Ingrid Borecki
- Inke R. König
- Ioanna Tzoulaki
- Iris M. Heid
- Ivana Kolcic
- Ivana Persico
- J. H. Young
- J. Wouter Jukema
- Jaakko Tuomilehto
- Jaana Laitinen
- Jaap W. Deckers
- Jackie A. Cooper
- Jacqueline C. M. Witteman
- Jacques S. Beckmann
- James E. Hixson
- James F. Meschia
- James F. Wilson
- James Scott
- James T. Willerson
- Jan A. Staessen
- Jan Stritzke
- Janine F. Felix
- Janja Nahrstedt
- Janos Terzic
- Jasmin Divers
- Jaspal S. Kooner
- Jayashri Aragam
- Jean-Charles Lambert
- Jean-Michel Gaspoz
- Jeanette Erdmann
- Jeanette M. Stafford
- Jeffrey R. Gulcher
- Jeffrey R. O’Connell
- Jemma C. Hopewell
- Jennifer A. Smith
- Jennifer L. Bragg-Gresham
- Jer-Yuarn Wu
- Jerome I. Rotter
- Jessica D. Faul
- Jiang He
- Jianjun Liu
- Jian’an Luan
- Jie Jin Wang
- Jie Yao
- Jing Hua Zhao
- Jingzhong Ding
- Joanne Murabito
- Joban S. Sehmi
- Joe Devaney
- Joel N. Hirschhorn
- Johanna Kuusisto
- Johanne Tremblay
- Johannes H. Smit
- Johannes Haerting
- John Attia
- John B. Whitfield
- John C. Chambers
- John Chalmers
- John Danesh
- John F. Peden
- John M. Connell
- John P. Beilby
- John R. Thompson
- John S. Gottdiener
- Jong-Young Lee
- Jorma Viikari
- Josef Coresh
- Joseph M. Lindsay
- Joshua C. Bis
- Joshua C. Denny
- Joshua Knowles
- Juan P. Casas
- Judith A Hoffman Bolton
- Juha Karjalainen
- Jutta Palmen
- Jyotika K. Fernandes
- Jürgen Grässler
- K. Radha Mani
- Karen L. Mohlke
- Kari Stefansson
- Karin Halina Greiser
- Karl Andersen
- Karl J. Lackner
- Karl Werdan
- Karl Winkler
- Karlhans Endlich
- Katalin Susztak
- Katja Butterbach
- Kay-Tee Khaw
- Kazuhiko Yamamoto
- Keith L. Keene
- Kelly Volcik
- Kenneth M. Kent
- Kenneth M. Rice
- Kent D. Taylor
- Kerri L. Wiggins
- Khanh-Dung Hoang Nguyen
- Kiran Musunuru
- Klaus Stark
- Kristian Hveem
- Kristin Marciante
- Kurt Lohman
- L. Adrienne Cupples
- Lars Lind
- Laura J. Scott
- Laura Portas
- Laura R. Loehr
- Laurence Tiret
- Leena Peltonen
- Leif Groop
- Lenore J. Launer
- Leo-Pekka Lyytikäinen
- Leslie J. Raffel
- Li Chen
- Li-Ching Chang
- Liming Qu
- Linda S. Adair
- Loic Yengo
- Lori L. Bonnycastle
- Louise V. Wain
- Lowell Satler
- Lude Franke
- Luigi Ferrucci
- Lyle J. Palmer
- Lynda M. Rose
- Lynne E. Wagenknecht
- Lyudmyla Kedenko
- M. Arfan Ikram
- M. J. Kranthi Kumar
- Maciej Tomaszewski
- Madhumathi Rao
- Maija Garnaas
- Maja Barbalic
- Maksim Struchalin
- Man Li
- Manuela Uda
- Marco Orru
- Marcus Dörr
- Marcus E. Kleber
- Marcus Fischer
- Margaret M. Redfield
- Margherita Cavalieri
- Margot Haun
- Margus Viigimaa
- Maria Blettner
- Maria Soler Artigas
- Marie Metzger
- Marilyn C. Cornelis
- Marina Ciullo
- Mario A. Morken
- Mario Pirastu
- Maris Laan
- Mariza de Andrade
- Marjo-Riitta Jarvelin
- Mark A. McEvoy
- Mark Hlatky
- Mark J. Caulfield
- Mark Lathrop
- Mark Seielstad
- Mark Woodward
- Marketa Sjögren
- Markku Laakso
- Markus Perola
- Martin Adam
- Martin D. Tobin
- Martin Farrall
- Martin G. Larson
- Mary F. Feitosa
- Mary Susan Burnett
- Masato Isono
- Massimiliano Cocca
- Massimo Mangino
- Mathias Gorski
- Matthew Denniff
- Matthew N. Cooper
- Matthias Nauck
- Matthias Olden
- Max C. Walker
- Medea Imboden
- Meena Kumari
- Megan E. Rudock
- Melanie Waldenberger
- Melissa Garcia
- Menno Pruijm
- Meredith Foster
- Michael Boehnke
- Michael G. Marmot
- Michael M. Hoffmann
- Michael Nalls
- Michael Preuss
- Michael Stumvoll
- Michele K. Evans
- Michele M. Sale
- Michiaki Kubo
- Michiel L. Bots
- Mika Kivimaki
- Mika Kähönen
- Min Jin Go
- Ming-Huei Chen
- Mingyao Li
- Mladen Boban
- Morris J. Brown
- Muhammad Islam
- Muredach P Reilly
- Murielle Bochud
- Myriam Alexander
- Myriam Rheinberger
- N. Charlotte Onland-Moret
- Nabila Bouatia-Naji
- Najaf Amin
- Nanette I. Steinle
- Nanette R. Lee
- Naoharu Iwai
- Naoyuki Kamatani
- Narisu Narisu
- Neil Risch
- Nele Friedrich
- Nicholas G. Martin
- Nicholas J. Wareham
- Nicholas L. Smith
- Nicholette D. Palmer
- Nick Hastie
- Nick R. G. Shrine
- Nicole L. Glazer
- Nicole Probst-Hensch
- Nicole Soranzo
- Niek Verweij
- Nilesh J. Samani
- Nish Chaturvedi
- Noel Burtt
- Norbert Watzinger
- Norihiro Kato
- Norman Klopp
- null null
- null null
- null null
- null null
- null null
- Olga Jarinova
- Olivier Devuyst
- Olle Melander
- Olli Raitakari
- Omri Gottesman
- Oscar H. Franco
- Ozren Polasek
- Paavo Zitting
- Pankaj Arora
- Pankaj Sharma
- Panos Deloukas
- Paolo Gasparini
- Paolo Vineis
- Patricia B. Munroe
- Patricia P. Chang
- Patrick Diemert
- Patrick Linsel-Nitschke
- Paul Elliott
- Paul F. O’Reilly
- Paul M. Ridker
- Paul Mitchell
- Paul Muntner
- Paul R. Burton
- Pavel Hamet
- Peng Chen
- Peter E. H. Schwarz
- Peter H. Whincup
- Peter J. van der Most
- Peter Kovacs
- Peter Nilsson
- Peter P. Pramstaller
- Peter S. Braund
- Peter Vollenweider
- Petra Bruse
- Philip Howard
- Philipp S. Wild
- Philippa J. Talmud
- Philippe Froguel
- Pierre Meneton
- Pilar Galan
- Pim van der Harst
- Pio d’Adamo
- Qiong Yang
- Rainer Rettig
- Ramachandran S. Vasan
- Rebecca Hardy
- Reedik Mägi
- Reijo Laaksonen
- Reiner Biffar
- Reinhold Schmidt
- Renate Schnabel
- Richard J. Rodeheffer
- Richard Myers
- Richard N. Bergman
- Richard S. Cooper
- Richard W. Morris
- RickTwee-Hee Ong
- Rita P. S. Middelberg
- Robert Clarke
- Robert J. Carroll
- Robert Roberts
- Robert W. Lawrence
- Robert Wilensky
- Robert Zweiker
- Roberto Elosua
- Rodney J. Scott
- Ron Waksman
- Ronit Katz
- Rory Collins
- Rossella Sorice
- Ruth J. F. Loos
- Ruth McPherson
- S. -J. Cathy Fann
- Samer Najjar
- Sanaz Sedaghat
- Sanjay Kinra
- Santhi K. Ganesh
- Santosh Dahgam
- Sarah H. Wild
- Satoshi Umemura
- Sekar Kathiresan
- Serge Hercberg
- Serkalem Demissie-Banjaw
- Sharon L. R. Kardia
- Sheila Ulivi
- Shih-Jen Hwang
- Shiro Maeda
- Shufeng Chen
- Siim Sõber
- Simon Heath
- Simonetta Guarrera
- Smita R. Kulkarni
- Solveig Gretarsdottir
- Sonny Dandona
- Stacey B. Gabriel
- Stefan Blankenberg
- Stefan Coassin
- Stefan Enroth
- Stefan Kloiber
- Stefan Pilz
- Stefan R. Bornstein
- Stefan Schreiber
- Stefan-Martin Brand
- Stefania Bandinelli
- Stella Trompet
- Stephan B. Felix
- Stephan J. L. Bakker
- Stephen E. Epstein
- Stephen Fortmann
- Stephen G. Ball
- Stephen J. Hancock
- Stephen T. Turner
- Steve E. Humphries
- Steven C. Hunt
- Steven M. Schwartz
- Steven Sidney
- Su-Chi Lim
- Sudha Seshadri
- Sue Shaw-Hawkins
- Susan R. Heckbert
- Susana Eyheramendy
- Sven Bergmann
- Sylvia E. Rosas
- Sylvia Stracke
- Takayoshi Ohkubo
- Talin Haritunians
- Tamara B. Harris
- Tanja B. Grammer
- Tanja Zeller
- Tatiana Kuznetsova
- Tatijana Zemunik
- Tatjana Stojakovic
- Tatsuhiko Tsunoda
- Tazeen H. Jafar
- Terho Lehtimäki
- Terrence Forrester
- Terri L. Young
- Tetsuro Miki
- Themistocles L. Assimes
- Thomas F. Münzel
- Thomas H. Mosley
- Thomas Illig
- Thomas J. Wang
- Thomas Lumley
- Thomas Meitinger
- Thomas Quertermous
- Thor Aspelund
- Thorsten Reffelmann
- Tien-Yin Wong
- Tiit Nikopensius
- Tim D. Spector
- Timothy M. Frayling
- Tin Aung
- Toby Johnson
- Tom R. Gaunt
- Tomohiro Katsuya
- Tomonori Okamura
- Tonu Esko
- Toshihiro Tanaka
- Toshiko Tanaka
- Toshio Ogihara
- Tunde Salako
- Tune H. Pers
- Ulf Gyllensten
- Unnur Thorsteinsdottir
- Uwe Völker
- Valur Emilsson
- Vasyl Pihur
- Veikko Salomaa
- Veronique Vitart
- Vikal Tripathy
- Ville Aalto
- Vilmundur Gudnason
- Vincent Chouraki
- Vincent Mooser
- Viviane Nicaud
- Vladan Mijatovic
- W. H. Linda Kao
- Walter Palmas
- Wayne D. Rosamond
- Wei-Min Chen
- Weihua Zhang
- Wendy L. McArdle
- Wiek H. van Gilst
- Wilfried Renner
- Will T. Longstreth
- William Matthai
- Wilmar Igl
- Winfried März
- Wolfgang Koenig
- Wolfgang Lieb
- Wolfram Goessling
- Xiaofeng Zhu
- Xiaoling Wang
- Xiuqing Guo
- Xueling Sim
- Yali Li
- Yan V. Sun
- Yanbin Dong
- Yasuharu Tabara
- Yen-Pei C. Chang
- Yi-An Ko
- Yik-Ying Teo
- Ying A. Wang
- Ying Wu
- Yingchang Lu
- Yong Li
- Yongmei Liu
- Yoon Shin Cho
- Yoshikuni Kita
- Young Jin Kim
- Yuan-Tsong Chen
- Yukinori Okada
- Yuri Milaneschi
- Yurii Aulchenko
- Yusuke Nakamura
- Yvonne T. van der Schouw
- Zouhair Aherrahrou
- Åsa Johansson
- Publication venue
- Springer Nature America, Inc
- Publication date
- 27/10/2015
- Field of study
Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways
Perceived Appropriateness of Shared Decision‐making in the Emergency Department: A Survey Study
- Author
- Publication venue
- eScholarship, University of California
- Publication date
- 01/04/2016
- Field of study
ObjectivesThe objective was to describe perceptions of practicing emergency physicians (EPs) regarding the appropriateness and medicolegal implications of using shared decision-making (SDM) in the emergency department (ED).MethodsWe conducted a cross-sectional survey of EPs at a large, national professional meeting to assess perceived appropriateness of SDM for different categories of ED management (e.g., diagnostic testing, treatment, disposition) and in common clinical scenarios (e.g., low-risk chest pain, syncope, minor head injury). A 21-item survey instrument was iteratively developed through review by content experts, cognitive testing, and pilot testing. Descriptive and multivariate analyses were conducted.ResultsWe approached 737 EPs; 709 (96%) completed the survey. Two-thirds (67.8%) of respondents were male; 51% practiced in an academic setting and 44% in the community. Of the seven management decision categories presented, SDM was reported to be most frequently appropriate for deciding on invasive procedures (71.5%), computed tomography (CT) scanning (56.7%), and post-ED disposition (56.3%). Among the specific clinical scenarios, use of thrombolytics for acute ischemic stroke was felt to be most frequently appropriate for SDM (83.4%), followed by lumbar puncture to rule out subarachnoid hemorrhage (73.8%) and CT head for pediatric minor head injury (69.9%). Most EPs (66.8%) felt that using and documenting SDM would decrease their medicolegal risk while a minority (14.2%) felt that it would increase their risk.ConclusionsAcceptance of SDM among EPs appears to be strong across management categories (diagnostic testing, treatment, and disposition) and in a variety of clinical scenarios. SDM is perceived by most EPs to be medicolegally protective
Fully automated synthesis and initial PET evaluation of [11C]PBR28
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
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