Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

- Pattaro, C, Teumer, A, Gorski, M, Chu, A.Y., Li, M, Mijatovic, V, Garnaas, M, Tin, A, Charchar, Fadi

Title
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
Creator
Pattaro, C; Teumer, A; Gorski, M; Chu, A.Y.; Li, M; Mijatovic, V; Garnaas, M; Tin, A; Charchar, Fadi
Date
2016
Type
Text; Journal article
Identifier
http://researchonline.federation.edu.au/vital/access/HandleResolver/1959.17/100446
Identifier
vital:10546
Identifier
https://doi.org/10.1038/ncomms10023
Identifier
ISSN:2041-1723
Abstract
Reduced 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. © 2016, Nature Publishing Group. All rights reserved. Please note that there are two hundred and six authors for this article and we have included only the Federation University Australia affiliate.
Publisher
Nature Publishing Group
Relation
Nature Communications Vol. 7, no. (2016), p. 1-19
Rights
Copyright © 2016, Nature Publishing Group. All rights reserved.
Rights
Open Access
Rights
This metadata is freely available under a CCO license
Subject
MD Multidisciplinary; Genetic association; Loci; Cell types; Biological pathways; Kidney function
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