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


Näytä suppeat kuvailutiedot Pattaro, Cristian - Köttgen, Anna - Teumer, Alexander - Garnaas, Maija - Böger, Casten A - Fuchsberger, Christian - Olden, Matthias - Chen, Ming-Huei - Tin, Adrienne - Taliun, Daniel - Lehtimäki, Terho - Kähönen, Mika - et al. - 2012-06-17T20:15:43Z 2012-06-16 13:15:37 - 2012-06-17T20:15:43Z 2012 -
dc.identifier.issn 1553-7404 -
dc.description Public Library of Science open access -
dc.description.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. -
dc.language.iso en -
dc.title Genome-wide association and functional follow-up reveals new Loci for kidney function. -
dc.type fi=Artikkeli aikakauslehdessä | en=Journal article| -
dc.identifier.urn urn:nbn:uta-3-992 -
dc.identifier.doi 10.1371/journal.pgen.1002584 -
dc.type.version fi=Kustantajan versio | en=Publisher's version| -
dc.subject.okm fi=Biolääketieteet | en=Biomedicine| -
dc.administrativeunit fi=Lääketieteen yksikkö | en=School of Medicine| -
dc.journal.title Plos Genetics -
dc.journal.volume 8 -
dc.journal.number 3 -
dc.journal.volumepagerange 1-15 -
dc.oldstats 29 -

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