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

Cristian Pattaro, Anna Köttgen, Alexander Teumer, Maija Garnaas, Carsten A. Boeger, Christian Fuchsberger, Matthias Olden, Ming-Huei Chen, Adrienne Tin, Daniel Taliun, Man Li, Xiaoyi Gao, Mathias Gorski, Qiong Yang, Claudia Hundertmark, Meredith C. Foster, Conall M. O'Seaghdha, Nicole Glazer, Aaron Isaacs, Ching-Ti LiuAlbert V. Smith, Jeffrey R. O'Connell, Maksim Struchalin, Toshiko Tanaka, Guo Li, Andrew D. Johnson, Hinco J. Gierman, Mary Feitosa, Shih-Jen Hwang, Elizabeth J. Atkinson, Kurt Lohman, Marilyn C. Cornelis, Asa Johansson, Anke Toenjes, Abbas Dehghan, Vincent Chouraki, Elizabeth G. Holliday, Rossella Sorice, Zoltan Kutalik, Terho Lehtimaeki, Tonu Esko, Harshal Deshmukh, Sheila Ulivi, Audrey Y. Chu, Federico Murgia, Stella Trompet, Medea Imboden, Helen Colhoun, Alex Doney, Colin Palmer, WTCCC2, CARDIoGRAM Consortium, CARe Consortium, ICBP Consortium

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    Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genomewide 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 languageEnglish
    Article numbere1002584
    Pages (from-to)-
    Number of pages15
    JournalPLoS Genetics
    Issue number3
    Publication statusPublished - 2012


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