Association between MTHFR Gene Polymorphism (C677T) and Coronary Artery Disease

Background and purpose: Coronary artery disease (CAD) is a complex disease that is caused by both environmental and genetic factors. Methylenetetrahydrofolate (MTHFR) enzyme is associated with metabolism of homocysteine and its impaired function is considered as a risk factor for developing CAD. Some variants are involved in decreased activity of MTHFR and its deficiency. The polymorphism of C677T (rs1801133) seems to be a significant variant that is related with CAD. The purpose of this study was to determine the relationship between MTHFR C677T gene polymorphism and susceptibility of CAD. This case-control study was performed in 71 patients with coronary artery disease and 71 healthy subjects (control group). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to genotype MTHFR polymorphism. The mean ages of subjects in case and control groups were 58.2±8.9 and 46±13.9 years, respectively (P= 0.0000). The case group included 37 (52.1%) males and 34 (47.9%) females. In control group, there were 38 (53.5%) males and 33 (46.5%) females. The frequency of CC, CT, and TT genotypes in C677T polymorphisms was 59.2%, 35.2%, and 5.6%, in CAD patients and 62%, 32.4%, and 5.4%, in controls, respectively, indicating no significant differences between the cases and controls
(p= 0.937). The frequency of T allele was 40.8% in cases and 38% in controls which also showed no significant difference between the two groups (P= 0.864). Current study found no relationship between MTHFR C677T gene polymorphism and CAD. However, further studies in larger population are recommended to achieve better understand this relationship.