Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function

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Author
Pattaro, Cristian
Köttgen, Anna
Teumer, Alexander
Böger, Carsten A.
Fuchsberger, Christian
Olden, Matthias
Chen, Ming-Huei
Tin, Adrienne
Taliun, Daniel
Li, Man
Gao, Xiaoyi
Gorski, Mathias
Yang, Qiong
Hundertmark, Claudia
Foster, Meredith C.
Glazer, Nicole
Isaacs, Aaron
Liu, Ching-Ti
Smith, Albert V.
O'Connell, Jeffrey R.
Struchalin, Maksim
Tanaka, Toshiko
Gierman, Hinco J.
Feitosa, Mary
Hwang, Shih-Jen
Atkinson, Elizabeth J.
Lohman, Kurt
Johansson, Åsa
Tönjes, Anke
Dehghan, Abbas
Chouraki, Vincent
Holliday, Elizabeth G.
Sorice, Rossella
Kutalik, Zoltan
Lehtimäki, Terho
Esko, Tõnu
Deshmukh, Harshal
Ulivi, Sheila
Murgia, Federico
Trompet, Stella
Imboden, Medea
Kollerits, Barbara
Pistis, Giorgio
Harris, Tamara B.
Launer, Lenore J.
Aspelund, Thor
Eiriksdottir, Gudny
Mitchell, Braxton D.
Boerwinkle, Eric
Schmidt, Helena
Cavalieri, Margherita
Rao, Madhumathi
Demirkan, Ayse
Oostra, Ben A.
de Andrade, Mariza
Ding, Jingzhong
Andrews, Jeanette S.
Freedman, Barry I.
Koenig, Wolfgang
Illig, Thomas
Döring, Angela
Wichmann, H.-Erich
Kolcic, Ivana
Zemunik, Tatijana
Boban, Mladen
Minelli, Cosetta
Wheeler, Heather E.
Igl, Wilmar
Zaboli, Ghazal
Wild, Sarah H.
Wright, Alan F.
Campbell, Harry
Ellinghaus, David
Nöthlings, Ute
Jacobs, Gunnar
Biffar, Reiner
Endlich, Karlhans
Ernst, Florian
Homuth, Georg
Kroemer, Heyo K.
Nauck, Matthias
Stracke, Sylvia
Völker, Uwe
Völzke, Henry
Kovacs, Peter
Stumvoll, Michael
Mägi, Reedik
Uitterlinden, Andre G.
Rivadeneira, Fernando
Aulchenko, Yurii S.
Polasek, Ozren
Hastie, Nick
Vitart, Veronique
Helmer, Catherine
Wang, Jie Jin
Ruggiero, Daniela
Bergmann, Sven
Kähönen, Mika
Viikari, Jorma
Nikopensius, Tiit
Province, Michael
Ketkar, Shamika
Colhoun, Helen
Doney, Alex
Robino, Antonietta
Giulianini, Franco
Krämer, Bernhard K.
Portas, Laura
Ford, Ian
Buckley, Brendan M.
Adam, Martin
Thun, Gian-Andri
Paulweber, Bernhard
Haun, Margot
Sala, Cinzia
Metzger, Marie
Mitchell, Paul
Ciullo, Marina
Kim, Stuart K.
Vollenweider, Peter
Raitakari, Olli
Metspalu, Andres
Palmer, Colin
Gasparini, Paolo
Pirastu, Mario
Jukema, J. Wouter
Probst-Hensch, Nicole M.
Kronenberg, Florian
Toniolo, Daniela
Gudnason, Vilmundur
Shuldiner, Alan R.
Coresh, Josef
Schmidt, Reinhold
Ferrucci, Luigi
Siscovick, David S.
van Duijn, Cornelia M.
Borecki, Ingrid
Kardia, Sharon L. R.
Liu, Yongmei
Rudan, Igor
Gyllensten, Ulf
Wilson, James F.
Franke, Andre
Pramstaller, Peter P.
Rettig, Rainer
Prokopenko, Inga
Witteman, Jacqueline C. M.
Hayward, Caroline
Parsa, Afshin
Bochud, Murielle
Heid, Iris M.
Garnaas, Maija
Li, Guo
Johnson, Andrew D.
Turner, Stephen T.
Kao, W. H. Linda
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https://doi.org/10.1371/journal.pgen.1002584Metadata
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Pattaro, Cristian, Anna Köttgen, Alexander Teumer, Maija Garnaas, Carsten A. Böger, Christian Fuchsberger, Matthias Olden, et al. 2012. Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genetics 8(3): e1002584.Abstract
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.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3315455/pdf/Terms of Use
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