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Public Library of Science, PLoS Genetics, 3(8), p. e1002584, 2012

DOI: 10.1371/journal.pgen.1002584

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Genome-wide association and functional follow-up reveals new loci for kidney function

Journal article published in 2012 by CARDIoGRAM Consortium CARe Consortium ICBP Consortium Wtccc2, Aulchenko Ys, Cristian Pattaro, Kao Wh, Alexander Teumer, Duijn Van, Conall M. O’seaghdha, Anke Toenjes, Jeffrey R. O’connell, Matthias Olden, Hwang Sj, Adrienne Tin, Anke Tönjes, Conall M. O'Seaghdha, Daniel Taliun and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Public Library of Science open access ; 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.