Article
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene.
Human genetics - 1 Sept 2010
Tzur Shay, Rosset Saharon, Shemer Revital, Yudkovsky Guennady, Selig Sara, Tarekegn Ayele, Bekele Endashaw, Bradman Neil, Wasser Walter G, Behar Doron M, Skorecki Karl
Abstract excerpt
MYH9 has been proposed as a major genetic risk locus for a spectrum of nondiabetic end stage kidney disease (ESKD). We use recently released sequences from the 1000 Genomes Project to identify two western African-specific missense mutations (S342G and I384M) in the neighboring APOL1 gene, and demonstrate that these are more strongly associated with ESKD than previously reported MYH9 variants. The APOL1 gene...
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