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American Society of Nephrology, Journal of the American Society of Nephrology, 3(28), p. 981-994, 2016

DOI: 10.1681/asn.2016020131

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SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

Journal article published in 2016 by Man Li, Yong Li, Qiong Yang, Teresa Nutile, Sanaz Sedaghat, Rossella Sorice, Adrienne Tin, Olivia Weeks, Tarunveer S. Ahluwalia, Dan E. Arking, Carsten A. Boeger, Nathan A. Bihlmeyer, Marilyn C. Comelis, Vladan Mijatovic, Carsten A. Böger and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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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 (nStage1: 111,666; nStage2: 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; PStage1