Pattaro, CristianFriedrich, NeleElosua Llanos, RobertoLucas, Gavin, 1977-2016-04-252016-04-252016Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V. et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nat Commun. 2016 Jan 21;7:10023. doi: 10.1038/ncomms10023.2041-1723http://hdl.handle.net/10230/26166Reduced 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.application/pdfengCopyright © 2016, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved./nThis work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/Ronyons -- FisiologiaGenèticainfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/ncomms10023info:eu-repo/semantics/openAccess