RESUMO
BACKGROUND: It has been proposed that folate and polymorphisms of the enzyme methylenetetrahydrofolate reductase (MTHFR), which regulates influx of folate for methylation reactions for DNA synthesis and repair, are involved in colorectal cancer. This study was designed to determine the influence of a genetic variant (MTHFR G1793A) and folate on colon cancer in Iran. MATERIALS AND METHODS: We analyzed 227 cases and 239 normal unmatched controls using pyrosequencing. Odds ratios and 95% confidence intervals (95% CI) were calculated to evaluate associations of the MTHFR gene polymorphism with colorectal cancer risk. RESULTS: A significantly reduced risk of recurrence was observed in patients heterozygous for the MTHFR G1793A polymorphism (OR: 0.17; 95% CI, 0.05-0.52). The frequency of GG, GA and AA genotypes of MTHFR among the colorectal cancer patients were 98%, 2% and 0% respectively, while the frequencies among controls were 90%, 10% and 0%, respectively. Furthermore, a significant reduction in recurrence risk was seen in MTHFR G1793A heterozygotes limited to those who received folate supplements. CONCLUSION: Our study is compatible with previous findings concerning a reverse association between the MTHFR 1793G> A genotype with cancers in different populations.