The association of single nucleotide polymorphism rs189037C>T in ATM gene with coronary artery disease in Chinese Han populations: A case control study

Medicine (Baltimore). 2018 Jan;97(4):e9747. doi: 10.1097/MD.0000000000009747.

Abstract

Accumulated evidence has indicated that ataxia telangiectasia mutated (ATM) is closely related to atherosclerosis and cardiovascular diseases. So we aimed to examine potential association between a gene variant [single nucleotide polymorphisms (SNPs), i.e., rs189037C>T] in the promoter of ATM gene and coronary artery disease (CAD) in Chinese Han populations.In this hospital-based case-control study, a total of 1308 participants were divided into CAD group (652 patients) and control group (656 subjects) after performing coronary angiography. The SNP rs189037 was genotyped by using polymerase chain reaction-restriction fragment length polymorphism.The distribution of rs189037 genotypes and alleles showed a significant difference between CAD and control subjects (genotypes: P = .032; alleles: P = .028). The percentage of the TT genotype is much higher in control group than that in CAD group (22.0% vs 16.3%, P = .009). After adjustment of the major confounding factors, such difference remained significant (OR = 0.62, 95% CI = 0.43-0.89, P = .010). After analyzing data from different groups divided by genders and smoking status respectively, we found that the protective effect of TT genotype on CAD was significant in males (P = .007) and smokers (P = .031). The difference remained statistically significant after multivariate adjustment (adjusted in males: OR = 0.60, 95% CI = 0.38-0.93, P = .022; adjusted in smokers: OR = 0.47, 95% CI = 0.27-0.81, P = .006).Our study suggests that ATM rs189037 polymorphism is associated with CAD in Chinese Han populations. The TT genotype of rs189037 seems to be associated with a lower risk of CAD and a protective genetic marker of CAD, especially in males and smokers.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Asian People / genetics*
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Case-Control Studies
  • China / ethnology
  • Coronary Angiography
  • Coronary Artery Disease / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Markers
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors
  • Sex Factors
  • Smoking / genetics
  • Young Adult

Substances

  • Genetic Markers
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins