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Publication Information
Affiliation
Department of Epidemiology, School of Medicine and Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21287, USA. wkao@jhsph.edu
Authors
Abboud HE, Adler SG, Berthier-Schaad Y, Coresh J, Divers J, Family Investigation of Nephropathy and Diabetes Research Group, Fink NE, Freedman BI, Iyengar SK, Kao WH, Kimmel PL, Klag MJ, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Li M, Meoni LA, Nicholas SB, Pahl MV, Parekh RS, Patterson N, Powe NR, Reich D, Sadler JH, Schelling JR, Sedor JR, Smith MW, Tandon A, Thornley-Brown D, Weir MR, Winkler CA
Studies
Citation
Kao WH, Klag MJ, Meoni LA, Reich D, Berthier-Schaad Y, Li M, Coresh J, Patterson N, Tandon A, Powe NR, Fink NE, Sadler JH, Weir MR, Abboud HE, Adler SG, Divers J, Iyengar SK, Freedman BI, Kimmel PL, Knowler WC, Kohn OF, Kramp K, Leehey DJ, Nicholas SB, Pahl MV, Schelling JR, Sedor JR, Thornley-Brown D, Winkler CA, Smith MW, Parekh RS, Family Investigation of Nephropathy and Diabetes Research Group. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 2008 Oct;40(10):1185-92. Epub 2008 Sep 14.Abstract
As end-stage renal disease (ESRD) has a four times higher incidence in African Americans compared to European Americans, we hypothesized that susceptibility alleles for ESRD have a higher frequency in the West African than the European gene pool. We carried out a genome-wide admixture scan in 1,372 ESRD cases and 806 controls and found a highly significant association between excess African ancestry and nondiabetic ESRD (lod score = 5.70) but not diabetic ESRD (lod = 0.47) on chromosome 22q12. Each copy of the European ancestral allele conferred a relative risk of 0.50 (95% CI = 0.39-0.63) compared to African ancestry. Multiple common SNPs (allele frequencies ranging from 0.2 to 0.6) in the gene encoding nonmuscle myosin heavy chain type II isoform A (MYH9) were associated with two to four times greater risk of nondiabetic ESRD and accounted for a large proportion of the excess risk of ESRD observed in African compared to European Americans.