Abstract
The goal of our study was to determine whether CDKN2BAS polymorphisms are associated with coronary heart disease (CHD) risk in a Han Chinese population. Eight SNPs were genotyped in 676 men and 465 women. We used χ2 tests and genetic model analyses to evaluate associations between the SNPs and CHD risk. We found that rs10757274 was associated with an increased risk of CHD in both men (allele G: Odds ratio [OR] = 1.30, 95% confidence interval [CI]: 1.05-1.61, P = 0.018; codominant model: P = 0.042; recessive model: OR = 1.70, 95% CI: 1.10-2.62, P = 0.016; log-additive model: OR = 1.34, 95% CI: 1.05-1.71, P = 0.019) and women (dominant model: OR = 2.26, 95% CI: 1.28-3.99, P = 0.004). In addition, rs7865618 was associated with an 8.10-fold increased risk of CHD in women under a recessive model (OR = 8.10, 95% CI: 1.74-37.68, P = 0.006). Interestingly, the haplotype AA (rs10757274 and rs1333042) of CDKN2BAS was associated with decreased the risk of CHD in men (OR = 0.72, 95% CI: 0.55 - 0.95, P = 0.022).
Highlights
Coronary heart disease (CHD), is a major cause of morbidity and mortality worldwide [1] and one of the most common chronic inflammatory diseases, characterized by remodeling and narrowing of the blood vessels that supply oxygen and blood to the heart [2]
We found that rs10757274 was associated with an increased risk of CHD in both men and women
We compared the differences in frequency distributions of alleles between cases and controls using Chi-squared tests and found that the frequency of allele “G” of rs10757274 in CDKN2BAS was higher in cases, and it was associated with a 1.30-fold increased risk of CHD in men at a 5% level (OR = 1.30, 95% confidence intervals (CIs): 1.05-1.61, P = 0.018)
Summary
Coronary heart disease (CHD), is a major cause of morbidity and mortality worldwide [1] and one of the most common chronic inflammatory diseases, characterized by remodeling and narrowing of the blood vessels (coronary arteries) that supply oxygen and blood to the heart [2]. Epidemiological studies have identified many risk factors for CHD, including age, gender, smoking, obesity, diabetes, hyperlipidemia, hypertension, lack of exercise, and dietary factors. Twin and family studies have demonstrated that a significant proportion (40-50%) of susceptibility to CHD is inherited [5]. Atherosclerosis is one of the main pathophysiological mechanisms of CHD [2], the responsible molecular and genetic determinants remain largely unidentified. Both genome-wide association studies (GWAS) and candidate gene studies have reported that CDKN2BAS (cyclin-dependent kinase inhibitor 2B antisense RNA) is a risk gene for CHD susceptibility [6,7,8]
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