Correlation between single nucleotide polymorphisms of ATM and coronary artery disease susceptibility

Aims: The planning of this study was to explore the correlation between ataxia-telangiectasia mutated (ATM) gene rs373759, rs664143 polymorphisms and the occurrence risk of coronary artery disease (CAD). Methods: 98 patients with CAD and 109 healthy volunteers who were matched with the former by age and gender, were enrolled in this study. The single nucleotide polymorphisms (SNPs) of ATM were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The distribution difference of SNP genotypes and alleles between case and control groups was checked by the chi-square test and genotype frequencies difference in control group was assessed by Hardy-Weinberg equilibrium (HWE). The susceptibility of CAD was expressed by odds ratio (OR) and 95% confidence interval (CI). The linkage disequilibrium (LD) and haplotype analyses were conducted based on haploview software. Results: The AA genotypes of ATM rs373759 between case and control groups had significant difference (P=0.040), and AA genotype carriers was easily subject to CAD, compared with GG genotype (OR=2.428, 95% CI=1.031-5.718). In addition, two SNPs were strong LD and haplotype Grs373759-Crs664143 were more frequent in control group (P=0.001) and might be a protective factor for CAD (OR=0.366, 95% CI=0.196-0.682). Conclusion: This study discovered that ATM rs373759 polymorphism is likely to be associated with the increased risk of CAD, but not rs664143. Besides, Grs373759-Crs664143 haplotype plays a protective role in CAD.