238: Lack of association between estrogen receptor α gene polymorphisms and myocardial infarction in Tunisian population

Introduction Coronary artery disease (CAD) is a multifactorial disease, its expression probably being influenced by the interaction of genetic and environmental risk factors. Genetic variation in the estrogen receptor-alpha gene (ERS1) has been associated with CAD in several populations worldwide, but results are still controversial. In the present study, we examined the association between the c.454-397T>C: PvuII restriction site (rs2234693) and c.454-351A>G: XbaI restriction site (rs9340799) polymorphisms (SNPs) and myocardial infarction (MI) in a sample of the Tunisian population. Material and methods The case group included 294 patients with MI, and the control group comprised 275 individuals with angiographically normal coronary arteries and without signs or symptoms of MI. ESR1 PvuII and XbaI polymorphism was determined by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. Results Genotype distributions of the SNPs in the control and patient groups were consistent with those expected for samples in Hardy-Weinberg equilibrium (p> 0.05). The Genotype distribution and the relative allelic frequencies of the -397T>C and - 351A>G polymorphisms were not significantly different between the control and patient groups (p=NS). Moreover, the odds ratio for MI associated with the c.454-397C (OR=1.02, 95% CI 0.81-1.30), and c.454-351G (OR=1.24, 95% CI 0.98-1.58) variants failed to reach statistical significance. Conclusion In the current study, we were unable to demonstrate a significant association of the ESR1 c.454-397T>C and c.454-351A>G polymorphisms with MI. These results do not support the extent of risk associated with developing MI previously reported for the ESR1 c.454-397T>C and c.454-351A>G polymorphisms.