The Role of MYH9 Polymorphisms in Glomerular Disease-May 27
The Atlanta Clinical & Translational Science Institute (ACTSI) presents The Role of MYH9 Polymorphisms in Glomerular Disease presented by Jeffrey Kopp, MD, Captain, U.S. Public Health Service and Staff Clinician, Kidney Disease Section, NIDDK, NIH.
African-Americans have a lifetime risk for end-stage kidney disease (ESKD) of approximately 8%, compared to approximately 2% for European Americans. This discrepancy extends across multiple kidney diseases, including diabetic nephropathy, hypertensive nephrosclerosis and various forms of glomerulonephritis. Dr. Kopp carried out an admixture mapping genome scan among African-Americans with focal segmental glomerulosclerosis (FSGS) and HIV-associated nephropathy, together with controls. His team identified MYH9, encoding non-muscle myosin IIA heavy chain, as a major effect gene, conferring an odds ratio of 4 for FSGS, 6 for HIVAN, 1.6 for hypertensive ESKD, and 1.4 for diabetic ESKD. The prevalence of the risk allele is 71% among Africans, 60% among African Americans, 4% among European Americans, and 0% among Asians and Native Americans. The risk for kidney disease is highest among risk allele homozygotes, but there is some effect in heterozygotes, suggesting a co-dominant model. Thus 36% of African Americans are risk allele homozygotes and are at the highest risk. The risk allele involves intronic variation, and the causative variant remains to be identified.