MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis
By J. Kopp, Michael W. Smith, George W. Nelson, Randall Johnson, B. Freedman, D. Bowden, Taras K. Oleksyk, L. Mckenzie, H. Kajiyama, T. Ahuja and 13 more. Nature Genetics, 2008
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The increased burden of chronic kidney and end-stage kidney diseases (ESKD) in populations of African ancestry has been largely unexplained. To identify genetic variants predisposing to idiopathic and HIV-1–associated focal segmental glomerulosclerosis (FSGS), we carried out an admixture-mapping linkage-disequilibrium genome scan on 190 African American individuals with FSGS and 222 controls. We identified a chromosome 22 region with a genome-wide logarithm of the odds (lod) score of 9.2 and a peak lod of 12.4 centered on MYH9, a functional candidate gene expressed in kidney podocytes. Multiple MYH9 SNPs and haplotypes were recessively associated with FSGS, most strongly a haplotype spanning exons 14 through 23 (OR = 5.0, 95% CI = 3.5–7.1; P = 4 × 10−23, n = 852). This association extended to hypertensive ESKD (OR = 2.2, 95% CI = 1.5–3.4; n = 433), but not type 2 diabetic ESKD (n = 476). Genetic variation at the MYH9 locus substantially explains the increased burden of FSGS and hypertensive ESKD among African Americans.
Subfields: Genetics, Nephrology
View Paper: https://www.semanticscholar.org/paper/43667b929bdc576bec6593a23c5292a336c70859
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In Genetics
Citations in the corpus
- A genome-wide admixture scan identifies MYH9 as a candidate locus associated with non-diabetic end stage renal disease in African Americans (2008, neutral): “and ongoing collaborations between authors of the present study and those of a concurrent study of FSGS in African American”
- Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene (2010, background): “HIVAN has been considered as the most prominent of the nondiabetic forms of kidney disease within what has been termed the MYH9-associated nephropathies (Kopp et al. 2008; Winkler et al. 2010).”