The Association Between MTHFR C677T Polymorphism and Homocysteine Levels as Risk Factors for Coronary Artery Disease: A Case-Control study

Objectives: Coronary artery disease (CAD) is the leading cause of disability and global death. Homocysteine is a major risk factor for CAD. High plasma homocysteine levels are an independent risk factor for this disease. Methylenetetrahydrofolate reductase (MTHFR) is one of the essential enzymes of homocysteine metabolism. In this way, mutations of genes encoding enzyme reduce its activity, which can increase blood homocysteine levels and ultimately raise the risk of CAD. Accordingly, this study aimed to investigate the association between MTHFR C677T polymorphism and homocysteine with CAD disease.Materials and Methods: The present investigation is a case-control study conducted on the patients of Heshmat hospital, Rasht, Iran. The demographic characteristics of 90 patients and 76 controls were obtained by questionnaires and blood samples were collected to evaluate homocysteine levels and gene polymorphism. MTHFR C677T polymorphism and blood homocysteine levels were assessed using amplification refractory mutation system polymerase chain reaction (ARMS-PCR) and ELISA, respectively, and a comparison was made between the two groups. The statistical analysis of the data was performed using SPSS software, version 21.Results: The frequency of C677T polymorphism genotypes in the control and patient groups was not statistically significant (P = 0.384). The highest frequency of genotype in the control (46.1%) and patient (50%) groups was shown in CT. Plasma homocysteine levels were significantly higher in CAD patients than in the control group (P = 0.001).Conclusion: The results of this study showed that the TT genotype of C677T polymorphism has a protective effect on CAD. Although the results obtained for C677T polymorphism are not statistically significant, this genotype had little effect on atherosclerosis. Consequently, the interaction of MTHFR gene polymorphism with CAD may be due to C677T genotype and homocysteine levels in the selected population of Guilan.