@article{22195,
keywords = {Humans, Gene Expression Regulation, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Renal Insufficiency, Chronic/ genetics},
author = {Yang Q. and Hu F. and Wang J. and Chasman D. and Koenig W. and Kleber M. and Hofman A. and Wilson J. and Gudnason V. and Harris T. and Ridker P. and Muntner P. and Rochtchina E. and Salvi E. and Bochud M. and Munroe P. and Cusi D. and Kao W. and Isaacs A. and van Duijn C. and Uitterlinden A. and Kronenberg F. and Stengel B. and Woodward Mark and Fox C. and Katz R. and Li M. and Smith J. and Jacobs G. and Chen M. and Ford I. and Kahonen M. and Lehtimaki T. and Viikari J. and Eiriksdottir G. and Hamet P. and Li Y. and Coresh J. and Gorski M. and Tin A. and Garnaas M. and Chu A. and Pattaro C. and Teumer A. and Tremblay J. and Aspelund T. and Launer L. and Smith A. and Mitchell B. and O'Connell J. and Shuldiner A. and Schmidt H. and Schmidt R. and Holliday E. and Mitchell P. and de Boer I. and Li G. and Siscovick D. and Hwang S. and Olden M. and de Andrade M. and Atkinson E. and Kardia S. and Turner S. and Stafford J. and Ding J. and Liu Y. and Grallert H. and Meisinger C. and Kramer B. and Kramer H. and Rosas S. and Nolte I. and Penninx B. and Snieder H. and Franke A. and Lieb W. and Dehghan A. and Franco O. and Rivadeneira F. and Sedaghat S. and Coassin S. and Haun M. and Kollerits B. and Paulweber B. and Endlich K. and Volker U. and Rettig R. and Chouraki V. and Helmer C. and Lambert J. and Metzger M. and Lyytikainen L. and Raitakari O. and Parsa A. and Heid I. and Goessling W. and Kottgen A. and Boger C. and Lu Y. and Tanaka T. and Brenner H. and Rao M. and Sorice R. and Mijatovic V. and Ko Y. and Taliun D. and Fuchsberger C. and Dieffenbach A. and Lupo A. and Ponte B. and Hayward C. and Gieger C. and Shaffer C. and Muller C. and Ackermann D. and Boerwinkle E. and Ehret G. and Homuth G. and Gambaro G. and Malerba G. and Wichmann H. and Wallaschofski H. and Volzke H. and Leach I. and Rudan I. and Denny J. and Butterbach K. and Ferrucci L. and Kedenko L. and Nauck M. and Waldenberger M. and Pruijm M. and Rheinberger M. and Verweij N. and Soranzo N. and Polasek O. and Pramstaller P. and Wild P. and Biffar R. and Carroll R. and Loos R. and Stracke S. and Zeller T. and Illig T. and Devuyst O. and Susztak K. and Peralta C. and Foster M. and Pers T. and Johnson A. and Tayo B. and Nalls M. and Feitosa M. and d'Adamo P. and Adeyemo A. and Zonderman A. and van der Most P. and Wright A. and Morrison A. and Dreisbach A. and Metspalu A. and Tonjes A. and Robino A. and Johansson A. and Demirkan A. and Freedman B. and Oostra B. and Buckley B. and Rotimi C. and Sala C. and Saint-Pierre A. and Shriner D. and Ruggiero D. and Toniolo D. and Czamara D. and Ellinghaus D. and Ruderfer D. and Bottinger E. and Murgia F. and Ernst F. and Navis G. and Curhan G. and Thun G. and Pistis G. and Montgomery G. and Campbell H. and Kroemer H. and Lin H. and Guessous I. and Prokopenko I. and Borecki I. and Kolcic I. and Persico I. and Jukema J. and Felix J. and Divers J. and Gaspoz J. and Faul J. and Hirschhorn J. and Attia J. and Whitfield J. and Karjalainen J. and Fernandes J. and Keene K. and Lohman K. and Portas L. and Yengo L. and Franke L. and Rose L. and Struchalin M. and Cavalieri M. and Cornelis M. and Ciullo M. and Pirastu M. and McEvoy M. and Adam M. and Cocca M. and Imboden M. and Stumvoll M. and Evans M. and Sale M. and Boban M. and Bouatia-Naji N. and Martin N. and Hastie N. and Probst-Hensch N. and Gottesman O. and Gasparini P. and Smit J. and Kovacs P. and Froguel P. and Magi R. and Middelberg R. and Scott R. and Wild S. and Ulivi S. and Enroth S. and Kloiber S. and Trompet S. and Hancock S. and Zemunik T. and Nikopensius T. and Esko T. and Gyllensten U. and Emilsson V. and Vitart V. and Aalto V. and Chen W. and Igl W. and Marz W. and Chalmers J.},
title = {Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function},
abstract = {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.},
year = {2016},
journal = {Nat CommunNat CommunNat Commun},
volume = {7},
edition = {2016/02/03},
pages = {10023},
isbn = {2041-1723 (Electronic)
2041-1723 (Linking)},
note = {Pattaro, Cristian
Teumer, Alexander
Gorski, Mathias
Chu, Audrey Y
Li, Man
Mijatovic, Vladan
Garnaas, Maija
Tin, Adrienne
Sorice, Rossella
Li, Yong
Taliun, Daniel
Olden, Matthias
Foster, Meredith
Yang, Qiong
Chen, Ming-Huei
Pers, Tune H
Johnson, Andrew D
Ko, Yi-An
Fuchsberger, Christian
Tayo, Bamidele
Nalls, Michael
Feitosa, Mary F
Isaacs, Aaron
Dehghan, Abbas
d'Adamo, Pio
Adeyemo, Adebowale
Dieffenbach, Aida Karina
Zonderman, Alan B
Nolte, Ilja M
van der Most, Peter J
Wright, Alan F
Shuldiner, Alan R
Morrison, Alanna C
Hofman, Albert
Smith, Albert V
Dreisbach, Albert W
Franke, Andre
Uitterlinden, Andre G
Metspalu, Andres
Tonjes, Anke
Lupo, Antonio
Robino, Antonietta
Johansson, Asa
Demirkan, Ayse
Kollerits, Barbara
Freedman, Barry I
Ponte, Belen
Oostra, Ben A
Paulweber, Bernhard
Kramer, Bernhard K
Mitchell, Braxton D
Buckley, Brendan M
Peralta, Carmen A
Hayward, Caroline
Helmer, Catherine
Rotimi, Charles N
Shaffer, Christian M
Muller, Christian
Sala, Cinzia
van Duijn, Cornelia M
Saint-Pierre, Aude
Ackermann, Daniel
Shriner, Daniel
Ruggiero, Daniela
Toniolo, Daniela
Lu, Yingchang
Cusi, Daniele
Czamara, Darina
Ellinghaus, David
Siscovick, David S
Ruderfer, Douglas
Gieger, Christian
Grallert, Harald
Rochtchina, Elena
Atkinson, Elizabeth J
Holliday, Elizabeth G
Boerwinkle, Eric
Salvi, Erika
Bottinger, Erwin P
Murgia, Federico
Rivadeneira, Fernando
Ernst, Florian
Kronenberg, Florian
Hu, Frank B
Navis, Gerjan J
Curhan, Gary C
Ehret, George B
Homuth, Georg
Coassin, Stefan
Thun, Gian-Andri
Pistis, Giorgio
Gambaro, Giovanni
Malerba, Giovanni
Montgomery, Grant W
Eiriksdottir, Gudny
Jacobs, Gunnar
Li, Guo
Wichmann, H-Erich
Campbell, Harry
Schmidt, Helena
Wallaschofski, Henri
Volzke, Henry
Brenner, Hermann
Kroemer, Heyo K
Kramer, Holly
Lin, Honghuang
Leach, I Mateo
Ford, Ian
Guessous, Idris
Rudan, Igor
Prokopenko, Inga
Borecki, Ingrid
Heid, Iris M
Kolcic, Ivana
Persico, Ivana
Jukema, J Wouter
Wilson, James F
Felix, Janine F
Divers, Jasmin
Lambert, Jean-Charles
Stafford, Jeanette M
Gaspoz, Jean-Michel
Smith, Jennifer A
Faul, Jessica D
Wang, Jie Jin
Ding, Jingzhong
Hirschhorn, Joel N
Attia, John
Whitfield, John B
Chalmers, John
Viikari, Jorma
Coresh, Josef
Denny, Joshua C
Karjalainen, Juha
Fernandes, Jyotika K
Endlich, Karlhans
Butterbach, Katja
Keene, Keith L
Lohman, Kurt
Portas, Laura
Launer, Lenore J
Lyytikainen, Leo-Pekka
Yengo, Loic
Franke, Lude
Ferrucci, Luigi
Rose, Lynda M
Kedenko, Lyudmyla
Rao, Madhumathi
Struchalin, Maksim
Kleber, Marcus E
Cavalieri, Margherita
Haun, Margot
Cornelis, Marilyn C
Ciullo, Marina
Pirastu, Mario
de Andrade, Mariza
McEvoy, Mark A
Woodward, Mark
Adam, Martin
Cocca, Massimiliano
Nauck, Matthias
Imboden, Medea
Waldenberger, Melanie
Pruijm, Menno
Metzger, Marie
Stumvoll, Michael
Evans, Michele K
Sale, Michele M
Kahonen, Mika
Boban, Mladen
Bochud, Murielle
Rheinberger, Myriam
Verweij, Niek
Bouatia-Naji, Nabila
Martin, Nicholas G
Hastie, Nick
Probst-Hensch, Nicole
Soranzo, Nicole
Devuyst, Olivier
Raitakari, Olli
Gottesman, Omri
Franco, Oscar H
Polasek, Ozren
Gasparini, Paolo
Munroe, Patricia B
Ridker, Paul M
Mitchell, Paul
Muntner, Paul
Meisinger, Christa
Smit, Johannes H
ICBP Consortium
AGEN Consortium
CARDIOGRAM
CHARGe-Heart Failure Group
ECHOGen Consortium
Kovacs, Peter
Wild, Philipp S
Froguel, Philippe
Rettig, Rainer
Magi, Reedik
Biffar, Reiner
Schmidt, Reinhold
Middelberg, Rita P S
Carroll, Robert J
Penninx, Brenda W
Scott, Rodney J
Katz, Ronit
Sedaghat, Sanaz
Wild, Sarah H
Kardia, Sharon L R
Ulivi, Sheila
Hwang, Shih-Jen
Enroth, Stefan
Kloiber, Stefan
Trompet, Stella
Stengel, Benedicte
Hancock, Stephen J
Turner, Stephen T
Rosas, Sylvia E
Stracke, Sylvia
Harris, Tamara B
Zeller, Tanja
Zemunik, Tatijana
Lehtimaki, Terho
Illig, Thomas
Aspelund, Thor
Nikopensius, Tiit
Esko, Tonu
Tanaka, Toshiko
Gyllensten, Ulf
Volker, Uwe
Emilsson, Valur
Vitart, Veronique
Aalto, Ville
Gudnason, Vilmundur
Chouraki, Vincent
Chen, Wei-Min
Igl, Wilmar
Marz, Winfried
Koenig, Wolfgang
Lieb, Wolfgang
Loos, Ruth J F
Liu, Yongmei
Snieder, Harold
Pramstaller, Peter P
Parsa, Afshin
O'Connell, Jeffrey R
Susztak, Katalin
Hamet, Pavel
Tremblay, Johanne
de Boer, Ian H
Boger, Carsten A
Goessling, Wolfram
Chasman, Daniel I
Kottgen, Anna
Kao, W H Linda
Fox, Caroline S
HHSN268201100009C/HL/NHLBI NIH HHS/United States
K12 RR023250/RR/NCRR NIH HHS/United States
P30 DK072488/DK/NIDDK NIH HHS/United States
R01 AG018728/AG/NIA NIH HHS/United States
R01 AG033193/AG/NIA NIH HHS/United States
R01 DK058845/DK/NIDDK NIH HHS/United States
R01 DK066574/DK/NIDDK NIH HHS/United States
R01 DK075787/DK/NIDDK NIH HHS/United States
R01 DK084350/DK/NIDDK NIH HHS/United States
R01 DK089256/DK/NIDDK NIH HHS/United States
R01 HL087641/HL/NHLBI NIH HHS/United States
R01 HL087660/HL/NHLBI NIH HHS/United States
R01 HL088119/HL/NHLBI NIH HHS/United States
R01 HL117078/HL/NHLBI NIH HHS/United States
R01DK090311/DK/NIDDK NIH HHS/United States
R24OD017870/OD/NIH HHS/United States
T32 HL007024/HL/NHLBI NIH HHS/United States
U01 GM074518/GM/NIGMS NIH HHS/United States
U01 HG004399/HG/NHGRI NIH HHS/United States
U01 HG004402/HG/NHGRI NIH HHS/United States
U01 HL072515/HL/NHLBI NIH HHS/United States
U01 HL084756/HL/NHLBI NIH HHS/United States
Z01 HG200362-01/Intramural NIH HHS/United States
Meta-Analysis
Research Support, N.I.H., Extramural
England
Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023.},
language = {eng},
}