Abstract
Epidemiologic evidence indicates that the prevalence and severity of coronary artery disease vary depending on ethnicity. In this study, a genome-wide association study for coronary artery calcification (CAC) was performed in a Korean population-based sample of 400 subjects without prior coronary artery disease and replicated in another of 1,288 subjects. CAC score, as assessed by multi-detector computed tomography, was evaluated in volunteers for screening purposes as part of a routine health examination. CAC score greater than the 90th percentile across the age in each sex group was considered severe CAC. Single nucleotide polymorphisms (SNPs) associated with severe CAC after adjusting for age, sex, hypertension, and diabetes were investigated using the additive model of logistic regression. One SNP (rs10757272 in the intronic region of the CDKN2B-AS1 gene in chromosome 9p21.3) met Bonferroni correction in the discovery set (p = 7.55E-08) and was also significant in the validation set by TaqMan assay (p = 0.036). Subjects with rs10757272 were found to have an increased odds ratio (OR) of having severe CAC in multivariate logistic regression analysis after adjusting for age, sex, hypertension, and diabetes (adjusted OR 3.24 and 95% CI 2.11–4.97). In conclusion, SNP rs10757272 in chromosome 9p21.3 was associated with severe CAC based on age and sex in an asymptomatic community-based Korean population. Therefore, it was associated with promotion of coronary artery calcification in subclinical state.
Highlights
Coronary artery calcium score (CACS) represents a measure of overall coronary atheromatous plaque burden and is a strong predictor of coronary artery disease (CAD)
We aimed to identify single nucleotide polymorphisms (SNPs) that could be associated with severe CAC in asymptomatic Korean populations using a genome-wide association studies (GWASs)
In this community-based population without CAD, we demonstrated that one Single nucleotide polymorphisms (SNPs) in the chromosome 9p21.3 locus reached significance for severe CAC for age and sex in Koreans
Summary
Coronary artery calcium score (CACS) represents a measure of overall coronary atheromatous plaque burden and is a strong predictor of coronary artery disease (CAD). Epidemiological studies have identified that the development of coronary atherosclerosis is associated with. GWAS of coronary calcium in Koreans and Jong-Eun Lee are employed by DNA Link, Inc. DNA Link, Inc. provided support in the form of salaries for authors ES and J-EL, but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section
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