Genome-wide association and functional follow-up reveals new loci for kidney function.
Author(s)
Type
Journal Article
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. © 2012 Pattaro et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Date Issued
2012-03-01
Start Page
e1002584
Journal / Book Title
PLoS Genet
Volume
8
Issue
3
Copyright Statement
© 2012 Pattaro et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits
unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Identifier
http://www.ncbi.nlm.nih.gov/pubmed/22479191
PGENETICS-D-11-02100
Subjects
African Americans
Aged
Animals
Caspase 9
Cyclin-Dependent Kinases
DEAD-box RNA Helicases
DNA Helicases
European Continental Ancestry Group
Female
Follow-Up Studies
Gene Knockdown Techniques
Genome-Wide Association Study
Glomerular Filtration Rate
Humans
Kidney
Kidney Failure, Chronic
Male
Middle Aged
Phosphoric Diester Hydrolases
Zebrafish
CARDIoGRAM Consortium
ICBP Consortium
CARe Consortium
Wellcome Trust Case Control Consortium 2 (WTCCC2)
Developmental Biology
0604 Genetics
Publication Status
Published
Coverage Spatial
United States