title: Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report.
abstract: 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.
authors.affiliation: Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas, USA.
authors.forename: Maja
authors.initials: M
authors.lastname: Barbalic
authors.forename: Alex P
authors.initials: AP
authors.lastname: Reiner
authors.forename: Chunyuan
authors.initials: C
authors.lastname: Wu
authors.forename: James E
authors.initials: JE
authors.lastname: Hixson
authors.forename: Nora
authors.initials: N
authors.lastname: Franceschini
authors.forename: Charles B
authors.initials: CB
authors.lastname: Eaton
authors.forename: Gerardo
authors.initials: G
authors.lastname: Heiss
authors.forename: David
authors.initials: D
authors.lastname: Couper
authors.forename: Thomas
authors.initials: T
authors.lastname: Mosley
authors.forename: Eric
authors.initials: E
authors.lastname: Boerwinkle
mesh_terms: D001741:Black or African American / Q000235:genetics*; D000368:Aged; D003327:Coronary Disease / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D056426:Genetic Loci / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors