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dc.contributor.authorPattaro C
dc.contributor.authorTeumer A
dc.contributor.authorGorski M
dc.contributor.authorChu AY
dc.contributor.authorLi M
dc.contributor.authorMijatovic V
dc.contributor.authorGarnaas M
dc.contributor.authorTin A
dc.contributor.authorSorice R
dc.contributor.authorLi Y
dc.contributor.authorTaliun D
dc.contributor.authorOlden M
dc.contributor.authorFoster M
dc.contributor.authorYang Q
dc.contributor.authorChen MH
dc.contributor.authorPers TH
dc.contributor.authorJohnson AD
dc.contributor.authorKo YA
dc.contributor.authorFuchsberger C
dc.contributor.authorTayo B
dc.contributor.authorNalls M
dc.contributor.authorFeitosa MF
dc.contributor.authorIsaacs A
dc.contributor.authorDehghan A
dc.contributor.authorD'Adamo P
dc.contributor.authorAdeyemo A
dc.contributor.authorDieffenbach AK
dc.contributor.authorZonderman AB
dc.contributor.author
dc.contributor.authorNolte IM
dc.contributor.authorvan der Most PJ
dc.contributor.authorWright AF
dc.contributor.authorShuldiner AR
dc.contributor.authorMorrison AC
dc.contributor.authorHofman A
dc.contributor.authorSmith AV
dc.contributor.authorDreisbach AW
dc.contributor.authorFranke A
dc.contributor.authorUitterlinden AG
dc.contributor.authorMetspalu A
dc.contributor.authorTonjes A
dc.contributor.authorLupo A
dc.contributor.authorRobino A
dc.contributor.authorJohansson A
dc.contributor.authorDemirkan A
dc.contributor.authorKollerits B
dc.contributor.authorFreedman BI
dc.contributor.authorPonte B
dc.contributor.authorOostra BA
dc.contributor.authorPaulweber B
dc.contributor.authorKrämer BK
dc.date.accessioned2018-10-08T14:15:15Z
dc.date.available2018-10-08T14:15:15Z
dc.date.issued2016
dc.identifier.issn2041-1723
dc.identifier.urihttp://dx.doi.org/10.1038/ncomms10023
dc.identifier.urihttp://hdl.handle.net/10863/6437
dc.description.abstractReduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.en_US
dc.language.isoenen_US
dc.rightsThis work is licensed under a Creative Commons Attribution 4.0 International License.
dc.titleGenetic associations at 53 loci highlight cell types and biological pathways relevant for kidney functionen_US
dc.typeArticleen_US
dc.date.updated2018-10-08T14:13:40Z
dc.language.isiEN-GB
dc.journal.titleNature Communications
dc.description.fulltextopenen_US


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