Background: Gene–environment interaction is an important aspect in the development of coronary artery disease (CAD). The mutation (677C-T) of methylenetetrahydrofolate reductase (MTHFR) gene results in a decrease of the enzyme activity that leads to mild hyperhomocysteinemia. Elevated plasma level of homocysteine has been recognized as an independent risk factor for cardiovascular disease. A case–control study was designed to assess whether the prevalence of some MTHFR gene polymorphisms have any role in the development of CAD. Materials and Methods: The study included unrelated 217 cases with CAD and 255 healthy controls. DNA was extracted from peripheral blood. MTHFR genotypes were identifi ed by seeing the presence or absence of 677C->T mutation obtained by PCR followed by Hinf1 restriction digestion. Multiple logistic regression analysis was carried out to fi nd association between studied genotypes and lifestyle as well as biochemical risk factors. Results: The T allele was found to be associated with the disease. Signifi cant associations were found with smoking, hypertension, diabetes, and family history of CAD. Conclusion: The results indicate that MTHFR 677C-T polymorphism has signifi cant association with CADs in the population of eastern India.
Key words: Allele, case–control, methylenetetrahydrofolate reductase, multiple logistic regression, polymorphism.