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Genome-wide association and functional follow-up reveals new loci for kidney function |
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| Authors: | Pattaro Cristian Köttgen Anna Teumer Alexander Garnaas Maija 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 O'Seaghdha Conall M Glazer Nicole Isaacs Aaron Liu Ching-Ti Smith Albert V O'Connell Jeffrey R Struchalin Maksim Tanaka Toshiko Li Guo Johnson Andrew D Gierman Hinco J Feitosa Mary Hwang Shih-Jen Atkinson Elizabeth J Lohman Kurt Cornelis Marilyn C Johansson Åsa Tönjes Anke Dehghan Abbas Chouraki Vincent Holliday Elizabeth G Sorice Rossella Kutalik Zoltan |
| Institution: | Institute of Genetic Medicine, European Academy of Bozen/Bolzano (EURAC) and Affiliated Institute of the University of Lübeck, Bolzano, Italy. |
| 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. |
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