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

Autori
Pattaro, C. ; ... ; Gorski, M. ; ... ; Glazer, N. ; ... ; ... ; Kolčić, Ivana ; Zemunik, Tatjana ; Boban, Mladen ; ... ; Polašek, Ozren ; ... ; Rudan, Igor ; ... ; Fox, C. S.

Kolaboracija
CARDIoGRAM Consortium ; ICBP Consortium ; CARe Consortium ; Wellcome Trust Case Control Consortium 2 (WTCCC2)

Izvornik
PLOS genetics (1553-7390) 8 (2012), 3; E1002584, 15

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
CKD ; genetic ; mpped2 ; casp9

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA