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Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals
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Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals
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Journal Article
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals
2021
Overview
Genes underneath signals from genome-wide association studies (GWAS) for kidney function are promising targets for functional studies, but prioritizing variants and genes is challenging. By GWAS meta-analysis for creatinine-based estimated glomerular filtration rate (eGFR) from the Chronic Kidney Disease Genetics Consortium and UK Biobank (n = 1,201,909), we expand the number of eGFRcrea loci (424 loci, 201 novel; 9.8% eGFRcrea variance explained by 634 independent signal variants). Our increased sample size in fine-mapping (n = 1,004,040, European) more than doubles the number of signals with resolved fine-mapping (99% credible sets down to 1 variant for 44 signals, ≤5 variants for 138 signals). Cystatin-based eGFR and/or blood urea nitrogen association support 348 loci (n = 460,826 and 852,678, respectively). Our customizable tool for Gene PrioritiSation reveals 23 compelling genes including mechanistic insights and enables navigation through genes and variants likely relevant for kidney function in human to help select targets for experimental follow-up.
Identifying causal variants and genes in genome-wide association studies remains a challenge, an issue that is ameliorated with larger sample sizes. Here the authors meta-analyze kidney function genome-wide association studies to identify new loci and fine-map loci to home in on variants and genes involved in kidney function.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ Epidermal growth factor receptors
/ Europe
/ Gene Expression Regulation - genetics
/ Genes
/ Genetic Predisposition to Disease
/ Genetics
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Glomerular Filtration Rate - genetics
/ Humanities and Social Sciences
/ Humans
/ Kidneys
/ Loci
/ Mapping
/ Renal Insufficiency, Chronic - genetics
/ Renal Insufficiency, Chronic - metabolism
/ RNA-Seq
/ Science
/ Urea
