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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.

Original publication




Journal article


PLoS genetics

Publication Date





Institute of Genetic Medicine, European Academy of Bozen/Bolzano (EURAC) and Affiliated Institute of the University of Lübeck, Bolzano, Italy.


CARDIoGRAM Consortium, ICBP Consortium, CARe Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Kidney, Animals, Zebrafish, Humans, Kidney Failure, Chronic, Phosphoric Diester Hydrolases, DNA Helicases, Cyclin-Dependent Kinases, Glomerular Filtration Rate, Follow-Up Studies, Aged, Middle Aged, African Americans, European Continental Ancestry Group, Female, Male, Caspase 9, DEAD-box RNA Helicases, Genome-Wide Association Study, Gene Knockdown Techniques