Martin R Pollak1, Giulio Genovese, David J Friedman. 1. Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts, USA. mpollak@bidmc.harvard.edu
Abstract
PURPOSE OF REVIEW: We review recent work on the genetic basis of kidney disease in African Americans and its relationship to variation in the APOL1 gene. RECENT FINDINGS: People of recent African ancestry develop kidney disease at rates 4-5 times higher than most other groups. This observation holds for kidney disease attributed to hypertension, as well as focal segmental glomerulosclerosis (FSGS), and HIV-associated nephropathy (HIVAN). Recent work suggests that the high risk for all of these forms of kidney disease in African Americans is conferred by the same genetic risk factors, specifically two coding sequence variants in the APOL1 gene. SUMMARY: Future studies aimed at understanding the clinical implications of APOL1 genotype in the setting of HIV infection, proteinuria, and hypertension-associated kidney disease will help clarify how these recent findings should influence a nephrologist's decisions about patient care. Studies exploring the cellular and molecular mechanisms of APOL1-associated disease may lead to new methods of treatment.
PURPOSE OF REVIEW: We review recent work on the genetic basis of kidney disease in African Americans and its relationship to variation in the APOL1 gene. RECENT FINDINGS:People of recent African ancestry develop kidney disease at rates 4-5 times higher than most other groups. This observation holds for kidney disease attributed to hypertension, as well as focal segmental glomerulosclerosis (FSGS), and HIV-associated nephropathy (HIVAN). Recent work suggests that the high risk for all of these forms of kidney disease in African Americans is conferred by the same genetic risk factors, specifically two coding sequence variants in the APOL1 gene. SUMMARY: Future studies aimed at understanding the clinical implications of APOL1 genotype in the setting of HIV infection, proteinuria, and hypertension-associated kidney disease will help clarify how these recent findings should influence a nephrologist's decisions about patient care. Studies exploring the cellular and molecular mechanisms of APOL1-associated disease may lead to new methods of treatment.
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