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Background : Coronary artery disease (CAD) is the most prevalent form  of cardiovascular disease that is caused by the formation of plaque in the arteries walls. Both genetic and environmental factors play an important role in the development of CAD. Aim : The aim of this study was to determine the association of  5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism with CAD in an Iranian population. Subjects and methods : In this case/control study, sequence specific primer-polymerase chain reaction (SSP-PCR) method was used for genotyping of 310 patients with CAD and 367 healthy controls. Results : Frequency of C/T genotype was significantly higher in the patients group than the control group (P = .03, OR: 1.6, 95% CI: 1.04–2.47). Based on the assumption that T is a risk allele, dominant model compares C/C genotypes to C/T + T/T genotypes. A significant association was observed in MTHFR C677T when the effect of the polymorphism was considered under a dominant genetic model (OR = 1.59; 95% CI = 1.03–2.46; P = .02). Evaluating genotype frequencies in 4 different ethnic groups (Fars, Turkmen, Sistani, and others) demonstrated significant statistical association of C/T genotype in Fars sub-groups (OR = 1.8; 95% CI = 1.11–3.06; P = .01) but this association is not observed in other populations. Significant association of C/T (P = .01, OR: 2.21, 95% CI: 1.15–4.4) genotype was found in women, but this association was not observed in men. Conclusion : The results of this study showed that C/T genotype in  MTHFR C677T position is a causative factor, especially in women, and might be associated with susceptibility to CAD in the Iranian population.

Common variant of 5,10-methylenetetrahydrofolate reductase may increase risk of coronary artery disease in the Iranian population