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Genetics of coronary artery calcification among African Americans, a meta-analysis

Mary K Wojczynski1, Mingyao Li, Lawrence F Bielak

  • 1Department of Genetics, Division of Statistical Genomics, Washington University School of Medicine, St. Louis, MO, USA. mwojczynski@wustl.edu

BMC Medical Genetics
|July 23, 2013
PubMed

Insights

Genetic variants for coronary artery calcification (CAC) were studied in African Americans (AA). While heritability was observed, genome-wide significant associations were not found, indicating a need for larger, ethnically focused studies.

Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Population Genomics

Background:

  • Coronary heart disease (CHD) is a leading cause of death in the US.
  • Coronary artery calcification (CAC) scores are key predictors of CHD.
  • African Americans (AA) experience higher CHD rates but are underrepresented in genomic studies.

Purpose of the Study:

  • To identify genetic variants associated with CAC in the largest available dataset of African Americans.
  • To investigate the genetic architecture of CAC in an understudied population.

Main Methods:

  • Genome-wide association analysis of log-transformed CAC (ln(CAC + 1)) in 5,823 AA individuals across 8 studies.
  • Meta-analysis of ~2.5 million single nucleotide polymorphisms (SNPs).
  • Evaluation of top AA SNPs in European Ancestry (EA) data and vice versa.

Main Results:

  • Heritability of CAC in AA was estimated at ~30%, lower than in EA.
  • No SNPs reached genome-wide significance (p < 5E-08) in the AA cohort.
  • Four SNPs in previously implicated regions (9p21, PHACTR1) showed nominal significance in AA, with rs16905644 being the strongest association in the 9p21 region.

Conclusions:

  • Substantial heritability for CAC exists in AA, but genome-wide significant loci were not identified.
  • Suggestive signals were observed in regions known for CAC/CHD associations in EA.
  • Larger sample sizes and an ethnic-specific focus are crucial for future genome-wide association studies (GWAS) in AA populations to uncover CAC-associated loci.
Abstract

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