<i>SOS2</i> and <i>ACP1</i> Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.

ABSTRACT: Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations between genotypes from the Illumina exome array and eGFR on the basis of serum creatinine (eGFRcrea) among participants of European ancestry from the CKDGen Consortium (n_Stage1: 111,666; n_Stage2: 48,343). In single-variant analyses, we identified single nucleotide polymorphisms at seven new loci associated with eGFRcrea (PPM1J, EDEM3, ACP1, SPEG, EYA4, CYP1A1, and ATXN2L; P_Stage1<3.7×10^-7), of which most were common and annotated as nonsynonymous variants. Gene-based analysis identified ass

SUBMITTER: Li M 

PROVIDER: S-EPMC5328154 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature