Evaluation of association between common genetic variants on chromosome 9p21 and coronary artery disease in Turkish population

Abstract

Objective:Coronary artery disease (CAD), which develops from complex interactions between genetic and enviromental factors, is a leading cause of death worldwide. Based on genome-wide association studies (GWAS), the chromosomal region 9p21 has been identified as the most relevant locus presenting a strong association with CAD in different populations. The aim of the present study was to investigate the association of two SNPs on chromosome 9p21 on susceptibility to CAD and the effect of these SNPs along with cardiovascular risk factors on the severity of CAD in the Turkish population.Methods:This study had an observational case-control design. We genotyped 460 subjects, aged 30-65 years, to investigate the association of 2 SNPs (rs1333049, rs2383207) on chromosome 9p21 and CAD risk in Turkish population. Real-time polymerase chain reaction (RT-PCR) was used to analyze the 2 SNPs in CAD patients and healthy controls. The genotype and allelic variations of these SNPs with the severity of CAD was also assessed using semi-quantitative methods such as the Gensini score. Student’s t test and multiple regression analysis were used for statistical analysis.Results:The SNPs rs1333049 and rs2383207 were found to be associated with CAD with an adjusted OR of 1.81 (95% Cl 1.05-3.12) and 2.12 (95% CI 1.19-4.10) respectively. After adjustment of CAD risk factors such as smoking, family history of CAD and diabetes, the homozygous AA genotype for rs2383207 increased the CAD risk with an OR 3.69. Also a very strong association was found between rs1333049 and rs2383207 and Gensini scores representing the severity of CAD (p<0.001).Conclusion:The rs2383207 and rs1333049 SNPs on 9p21 chromosome were significantly associated with the risk and severity of CAD in the Turkish population.

Association between 1p13 polymorphisms and peripheral arterial disease in a Chinese population with diabetes

“…It has been found that chromosome 1p31 locus is specific to peripheral arterial occlusive disease, which is diagnosed angiographically and/or surgically. Rs1333049 on chromosome 9p21 was not only associated with coronary artery disease (CAD) susceptibility, but also associated with PAD, which indicated that CAD and PAD might have a common genetic basis.…”

Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population

“…Cakmak et al. found rs2383207 and rs1333049 were significantly associated with the risk and severity of CAD in the Turkish population (Çakmak et al., ). However, several studies failed to demonstrate a significant association between the 9p21 genotypes and CAD severity by Gensini score in Asian populations (Hinohara et al., ; Hiura et al., ; Shen et al., ).…”

Association of rs10757274 and rs2383206 Polymorphisms on 9p21 locus with Coronary Artery Disease in Turkish Population

“…In a very recent study performed by Çakmak et al, 29) the two SNPs of rs2383207 and rs1333049 at the 9p21 chromosome were evaluated in 220 patients with CAD in a Turkish population. Significant differences were seen in frequencies of rs2383207 and rs1333049 variants between CAD patients and healthy subjects.…”

“…Our study population was wider and patient selection showed important discrepancies between the two studies. Çakmak et al 29) did not include patients older than 55 years in male -and 65 years in female patients. However, these gene polymorphisms are particularly expected to be related with premature atherosclerosis.…”