PLoS Genetics (Aug 2011)

Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report.

  • Maja Barbalic,
  • Alex P Reiner,
  • Chunyuan Wu,
  • James E Hixson,
  • Nora Franceschini,
  • Charles B Eaton,
  • Gerardo Heiss,
  • David Couper,
  • Thomas Mosley,
  • Eric Boerwinkle

DOI
https://doi.org/10.1371/journal.pgen.1002199
Journal volume & issue
Vol. 7, no. 8
p. e1002199

Abstract

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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.