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Relevance of the ACTN4 Gene in African-Americans with Non-Diabetic End-Stage Renal Disease
Author(s) -
Meredith A. Bostrom,
Peter S. Perlegas,
Lingyi Lu,
Andrew A. Hicks,
Greg Hawkins,
Maggie Ng,
Carl D. Langefeld,
Barry I. Freedman,
Donald W. Bowden
Publication year - 2012
Publication title -
american journal of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.394
H-Index - 85
eISSN - 1421-9670
pISSN - 0250-8095
DOI - 10.1159/000342205
Subject(s) - single nucleotide polymorphism , end stage renal disease , odds ratio , medicine , diabetic nephropathy , allele , snp , nephropathy , minor allele frequency , genetics , genotype , gastroenterology , endocrinology , diabetes mellitus , biology , disease , gene
African-Americans (AAs) are predisposed to non-diabetic (non-DM) end-stage renal disease (ESRD), and studies have shown a genetic component to this risk. Rare mutations in ACTN4 (α-actinin-4), an actin-binding protein expressed in podocytes, cause familial focal segmental glomerulosclerosis.

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