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.
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Title
Genome-wide association and functional follow-up reveals new loci for kidney function
Author
Pattaro, Cristian : University of Lübeck Köttgen, Anna : Johns Hopkins University Teumer, Alexander : University of Greifswald Garnaas, Maija : Harvard University Böger, Carsten A. : University Medical Center Regensburg Fuchsberger, Christian : University of Michigan Olden, Matthias : Regensburg University Medical Center Chen, Ming-Huei : Boston University Tin, Adrienne : Johns Hopkins University Taliun, Daniel : University of Lübeck Li, Man : Johns Hopkins University Gao, Xiaoyi : Washington University in St. Louis Gorski, Mathias : University Hospital Regensburg Yang, Qiong : Boston University Hundertmark, Claudia : Freiburg University Clinic Foster, Meredith C. : National Heart, Lung, and Blood Institute O'Seaghdha, Conall M. : National Heart, Lung, and Blood Institute Glazer, Nicole : Boston University Isaacs, Aaron : Erasmus University Medical Center Liu, Ching-Ti : Boston University Smith, Albert V. : Icelandic Heart Association O'Connell, Jeffrey R. : University of Maryland Struchalin, Maksim : Erasmus University Medical Centre Tanaka, Toshiko : National Institute of Aging Li, Guo : University of Washington Wheeler, Heather E. : University of Chicago
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Notes
Due to the large number of authors, only the first 20 and the University of Chicago authors are included on the above author list. Please download the article for the complete list of authors.