Article
Relevance of the ACTN4 gene in African-Americans with non-diabetic end-stage renal disease.
American journal of nephrology - 1 Jan 2012
Bostrom Meredith A, Perlegas Peter, Lu Lingyi, Hicks Pamela J, Hawkins Greg, Ng Maggie C Y, Langefeld Carl D, Freedman Barry I, Bowden Donald W
Abstract excerpt
BACKGROUND: 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. METHODS: We assessed the contribution of coding variants in ACTN4 to non-DM ESRD risk in AAs. Nineteen exons,...
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