Published March 29, 2012
| Version v1
Journal article
Open
Genome-wide association and functional follow-up reveals new loci for kidney function
Creators
- Pattaro, Cristian1
- Köttgen, Anna2
- Teumer, Alexander3
- Garnaas, Maija4
- Böger, Carsten A.5
- Fuchsberger, Christian6
- Olden, Matthias7
- Chen, Ming-Huei8
- Tin, Adrienne2
- Taliun, Daniel1
- Li, Man2
- Gao, Xiaoyi9
- Gorski, Mathias10
- Yang, Qiong8
- Hundertmark, Claudia11
- Foster, Meredith C.12
- O'Seaghdha, Conall M.12
- Glazer, Nicole8
- Isaacs, Aaron13
- Liu, Ching-Ti8
- Smith, Albert V.14
- O'Connell, Jeffrey R.15
- Struchalin, Maksim16
- Tanaka, Toshiko17
- Li, Guo18
- Wheeler, Heather E.19
- 1. University of Lübeck
- 2. Johns Hopkins University
- 3. University of Greifswald
- 4. Harvard University
- 5. University Medical Center Regensburg
- 6. University of Michigan
- 7. Regensburg University Medical Center
- 8. Boston University
- 9. Washington University in St. Louis
- 10. University Hospital Regensburg
- 11. Freiburg University Clinic
- 12. National Heart, Lung, and Blood Institute
- 13. Erasmus University Medical Center
- 14. Icelandic Heart Association
- 15. University of Maryland
- 16. Erasmus University Medical Centre
- 17. National Institute of Aging
- 18. University of Washington
- 19. University of Chicago
Description
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.
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.
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Additional details
Identifiers
- DOI
- 10.1371/journal.pgen.1002584
- Other
- oai:uchicago.tind.io:10898
Funding
- National Heart, Lung, and Blood Institute
- T32HL007575