Association analysis of C677T and A1298C polymorphisms in MTHFR gene in patients with colorectal cancer susceptibility

5,10-methylenetetrahydrofolate reductase (MTHFR) plays an important role in folate metabolism. Also, this gene is associated with repair, synthesis and methylation of DNA. Polymorphisms of C677T and A1298C are two common SNP of MTHFR gene. This study was aimed to investigate the association of C677T and A1298C polymorphisms in MTHFR with colorectal cancer in the Iranian population. In this case-control study, 100 patients with colorectal cancer and 100 healthy individuals' samples as a control group were collected. Genomic DNA was isolated from peripheral blood samples, and MTHFR C677T and A1298C genotyping were performed via RFLP-PCR. Significant associations among genotypes 677CT (OR= 2.0910, 95% CI= 1.1728 to 3.7280, p= 0.0124) and 677TT (OR= 5.2073, 95% CI= 1.0299 to 26.3283,p= 0.0460) with risk of colorectal cancer was found. But no significant relationship was detected between A1298C polymorphism and colorectal cancer. MTHFR C677T polymorphism can increase the risk of colorectal cancer in the Iranian population.