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. 2010 May;42(5):376-84.
doi: 10.1038/ng.568. Epub 2010 Apr 11.

New loci associated with kidney function and chronic kidney disease

Anna Köttgen  1 , Cristian Pattaro, Carsten A Böger, Christian Fuchsberger, Matthias Olden, Nicole L Glazer, Afshin Parsa, Xiaoyi Gao, Qiong Yang, Albert V Smith, Jeffrey R O'Connell, Man Li, Helena Schmidt, Toshiko Tanaka, Aaron Isaacs, Shamika Ketkar, Shih-Jen Hwang, Andrew D Johnson, Abbas Dehghan, Alexander Teumer, Guillaume Paré, Elizabeth J Atkinson, Tanja Zeller, Kurt Lohman, Marilyn C Cornelis, Nicole M Probst-Hensch, Florian Kronenberg, Anke Tönjes, Caroline Hayward, Thor Aspelund, Gudny Eiriksdottir, Lenore J Launer, Tamara B Harris, Evadnie Rampersaud, Braxton D Mitchell, Dan E Arking, Eric Boerwinkle, Maksim Struchalin, Margherita Cavalieri, Andrew Singleton, Francesco Giallauria, Jeffrey Metter, Ian H de Boer, Talin Haritunians, Thomas Lumley, David Siscovick, Bruce M Psaty, M Carola Zillikens, Ben A Oostra, Mary Feitosa, Michael Province, Mariza de Andrade, Stephen T Turner, Arne Schillert, Andreas Ziegler, Philipp S Wild, Renate B Schnabel, Sandra Wilde, Thomas F Munzel, Tennille S Leak, Thomas Illig, Norman Klopp, Christa Meisinger, H-Erich Wichmann, Wolfgang Koenig, Lina Zgaga, Tatijana Zemunik, Ivana Kolcic, Cosetta Minelli, Frank B Hu, Asa Johansson, Wilmar Igl, Ghazal Zaboli, Sarah H Wild, Alan F Wright, Harry Campbell, David Ellinghaus, Stefan Schreiber, Yurii S Aulchenko, Janine F Felix, Fernando Rivadeneira, Andre G Uitterlinden, Albert Hofman, Medea Imboden, Dorothea Nitsch, Anita Brandstätter, Barbara Kollerits, Lyudmyla Kedenko, Reedik Mägi, Michael Stumvoll, Peter Kovacs, Mladen Boban, Susan Campbell, Karlhans Endlich, Henry Völzke, Heyo K Kroemer, Matthias Nauck, Uwe Völker, Ozren Polasek, Veronique Vitart, Sunita Badola, Alexander N Parker, Paul M Ridker, Sharon L R Kardia, Stefan Blankenberg, Yongmei Liu, Gary C Curhan, Andre Franke, Thierry Rochat, Bernhard Paulweber, Inga Prokopenko, Wei Wang, Vilmundur Gudnason, Alan R Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, Michael G Shlipak, Cornelia M van Duijn, Ingrid Borecki, Bernhard K Krämer, Igor Rudan, Ulf Gyllensten, James F Wilson, Jacqueline C Witteman, Peter P Pramstaller, Rainer Rettig, Nick Hastie, Daniel I Chasman, W H Kao, Iris M Heid, Caroline S Fox
Affiliations

New loci associated with kidney function and chronic kidney disease

Anna Köttgen et al. Nat Genet. 2010 May.

Abstract

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea < 60 ml/min/1.73 m(2); n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3). These results further our understanding of the biologic mechanisms of kidney function by identifying loci that potentially influence nephrogenesis, podocyte function, angiogenesis, solute transport and metabolic functions of the kidney.

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Figures

Figure 1
Figure 1
Genome-wide −log10 p-value plot from Stage 1: Discovery analysis of eGFRcrea (A), CKD (B) and eGFRcys (C).
Figure 2
Figure 2
Figure 3
Figure 3
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