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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

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Authors
Pattaro, Cristian
Teumer, Alexander
Gorski, Mathias
Chu, Audrey Y
Li, Man
Mijatovic, Vladan
Garnaas, Maija
Tin, Adrienne
Sorice, Rossella
Li, Yong
Taliun, Daniel
Wallaschofski, Henri
Völzke, Henry
Brenner, Hermann
Kroemer, Heyo K
Kramer, Holly
Lin, Honghuang
Leach, I Mateo
Ford, Ian
Guessous, Idris
Rudan, Igor
Olden, Matthias
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
Foster, Meredith
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
Yang, Qiong
Viikari, Jorma
Coresh, Josef
Denny, Joshua C
Karjalainen, Juha
Fernandes, Jyotika K
Endlich, Karlhans
Butterbach, Katja
Keene, Keith L
Lohman, Kurt
Portas, Laura
Chen, Ming-Huei
Launer, Lenore J
Lyytikäinen, Leo-Pekka
Yengo, Loic
Franke, Lude
Ferrucci, Luigi
Rose, Lynda M
Kedenko, Lyudmyla
Rao, Madhumathi
Struchalin, Maksim
Kleber, Marcus E
Pers, Tune H
Cavalieri, Margherita
Haun, Margot
Cornelis, Marilyn C
Ciullo, Marina
Pirastu, Mario
de Andrade, Mariza
McEvoy, Mark A
Woodward, Mark
Adam, Martin
Cocca, Massimiliano
Johnson, Andrew D
Nauck, Matthias
Imboden, Medea
Waldenberger, Melanie
Pruijm, Menno
Metzger, Marie
Stumvoll, Michael
Evans, Michele K
Sale, Michele M
Kähönen, Mika
Boban, Mladen
Ko, Yi-An
Bochud, Murielle
Rheinberger, Myriam
Verweij, Niek
Bouatia-Naji, Nabila
Martin, Nicholas G
Hastie, Nick
Probst-Hensch, Nicole
Soranzo, Nicole
Devuyst, Olivier
Raitakari, Olli
Fuchsberger, Christian
Gottesman, Omri
Franco, Oscar H
Polasek, Ozren
Gasparini, Paolo
Munroe, Patricia B
Ridker, Paul M
Mitchell, Paul
Muntner, Paul
Meisinger, Christa
Smit, Johannes H
Tayo, Bamidele
Kovacs, Peter
Wild, Philipp S
Froguel, Philippe
Rettig, Rainer
Mägi, Reedik
Biffar, Reiner
Schmidt, Reinhold
Middelberg, Rita P S
Carroll, Robert J
Penninx, Brenda W
Nalls, Michael
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
Feitosa, Mary F
Stengel, Benedicte
Hancock, Stephen J
Turner, Stephen T
Rosas, Sylvia E
Stracke, Sylvia
Harris, Tamara B
Zeller, Tanja
Zemunik, Tatijana
Lehtimäki, Terho
Illig, Thomas
Isaacs, Aaron
Aspelund, Thor
Nikopensius, Tiit
Esko, Tonu
Tanaka, Toshiko
Gyllensten, Ulf
Völker, Uwe
Emilsson, Valur
Vitart, Veronique
Aalto, Ville
Gudnason, Vilmundur
Dehghan, Abbas
Chouraki, Vincent
Chen, Wei-Min
Igl, Wilmar
März, Winfried
Koenig, Wolfgang
Lieb, Wolfgang
Loos, Ruth J F
Liu, Yongmei
Snieder, Harold
Pramstaller, Peter P
d'Adamo, Pio
Parsa, Afshin
O'Connell, Jeffrey R
Susztak, Katalin
Hamet, Pavel
Tremblay, Johanne
de Boer, Ian H
Böger, Carsten A
Goessling, Wolfram
Chasman, Daniel I
Köttgen, Anna
Adeyemo, Adebowale
Kao, W H Linda
Fox, Caroline S
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, Åsa
Demirkan, Ayse
Kollerits, Barbara
Freedman, Barry I
Ponte, Belen
Oostra, Ben A
Paulweber, Bernhard
Krämer, Bernhard K
Mitchell, Braxton D
Buckley, Brendan M
Peralta, Carmen A
Hayward, Caroline
Helmer, Catherine
Rotimi, Charles N
Shaffer, Christian M
Müller, 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
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Issue Date
2016

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Citation
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. 2016, 7:10023 Nat Commun
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.
Description
To access publisher's full text version of this article click on the hyperlink at the bottom of the page
Additional Links
http://dx.doi.org/ 10.1038/ncomms10023
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735748/
Rights
Archived with thanks to Nature communications
ae974a485f413a2113503eed53cd6c53
10.1038/ncomms10023
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