UNIGE document Scientific Article
previous document  unige:92741  next document
add to browser collection
Title

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

Authors
Pattaro, Cristian
Teumer, Alexander
Gorski, Mathias
Chu, Audrey Y.
Li, Man
Mijatovic, Vladan
CollaborationWith : Ponte, Belen / Ehret, Georg Benedikt / Guessous, Idris / Gaspoz, Jean-Michel
Published in Nature Communications. 2016, vol. 7, p. 10023
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.
Identifiers
PMID: 26831199
Full text
Article (Published version) (1.1 MB) - public document Free access
Structures
Research groups Groupe Jean-Michel Gaspoz (23)
Traits génétiques complexes (901)
Citation
(ISO format)
PATTARO, Cristian et al. Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. In: Nature Communications, 2016, vol. 7, p. 10023. https://archive-ouverte.unige.ch/unige:92741

31 hits

6 downloads

Update

Deposited on : 2017-03-21

Export document
Format :
Citation style :