Open AccessGenome-Wide Association Analysis of Incident Coronary Heart Disease (CHD) in African Americans: A Short Report
Author(s) -
Maja Barbalić,
Alex P. Reiner,
Chunyuan Wu,
James E. Hixson,
Nora Franceschini,
Charles B. Eaton,
Gerardo Heiss,
David J. Couper,
Thomas H. Mosley,
Eric Boerwinkle
Publication year - 2011
Publication title -
plos genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.587
H-Index - 233
eISSN - 1553-7404
pISSN - 1553-7390
DOI - 10.1371/journal.pgen.1002199
Subject(s) - genome wide association study , locus (genetics) , snp , biology , genetic association , single nucleotide polymorphism , genetics , medicine , hazard ratio , demography , gene , confidence interval , genotype , sociology
African Americans have the highest rate of mortality due to coronary heart disease (CHD). Although multiple loci have been identified influencing CHD risk in European-Americans using a genome-wide association (GWAS) approach, no GWAS of incident CHD has been reported for African Americans. We performed a GWAS for incident CHD events collected during 19 years of follow-up in 2,905 African Americans from the Atherosclerosis Risk in Communities (ARIC) study. We identified a genome-wide significant SNP (rs1859023, MAF = 31%) located at 7q21 near the PFTK1 gene (HR = 0.57, 95% CI 0.46 to 0.69, p = 1.86×10 −08 ), which replicated in an independent sample of over 8,000 African American women from the Women's Health Initiative (WHI) (HR = 0.81, 95% CI 0.70 to 0.93, p = 0.005). PFTK1 encodes a serine/threonine-protein kinase, PFTAIRE-1, that acts as a cyclin-dependent kinase regulating cell cycle progression and cell proliferation. This is the first finding of incident CHD locus identified by GWAS in African Americans.