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

Pattaro C
•
Köttgen A
•
Teumer A
altro
Fox C.S.
2012
  • journal article

Periodico
PLOS GENETICS
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.
DOI
10.1371/journal.pgen.1002584
WOS
WOS:000302254800059
SCOPUS
2-s2.0-84859224378
Archivio
http://hdl.handle.net/11368/2571221
Diritti
metadata only access
Soggetti
  • genetic

  • kidney function

Web of Science© citazioni
148
Data di acquisizione
Mar 28, 2024
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