Background and Aim: Colorectal cancer (CRC) is the second leading cause of cancer death in the world. The great majority (80%) of patients with colorectal cancer have sporadic disease with no evidence of having inherited the disorder. The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR), is involved in folate metabolism and DNA repair pathways. A novel polymorphic site in MTHFR (G1793A) was first described in 2002. It was selected on the basis of recent investigations on functional effects on DNA synthesis, DNA repair and chromosomal damage. Investigations revealed that this allele was associated with susceptibility to several types of cancers. The aim of the present study was to investigate the associations, if any, between polymorphism G1793A of MTHFR gene and the risk of CRC in a population from Iran. Materials and Methods: We analyzed 227 cases and 239 normal unmatched control genotypes using pyrosequencing technique. Odd ratio and 95% confidence intervals (95% CI) were calculated to evaluate associations of MTHFR gene polymorphism with colorectal cancer risk. Results: While the GG, GA and AA genotype frequencies of MTHFR among the colorectal cancer patients were 98.2%, 1.8% and 0% respectively, we found 90.3% of 1793GG, 9.7% of 1793GA and 0% of 1793AA in the normal controls. Thus, there is a significant reverse association between G/A genotype and colorectal cancer (OR: 0.17 95% CI, 0.05- 0.47). Conclusion: Our study is compatible with previous findings that indicate a reverse association between of the MTHFR 1793G>A genotype with other cancers in different population.
Montazer Haghigh M, Najar Sadeghi R, Mohebbi SR, Vahedi M, Zali M. A Significant Reverse Association between MTHFR Polymorphism (1793G>A) with Sporadic Colorectal Cancer . pajoohande 2009; 14 (3) :147-151 URL: http://pajoohande.sbmu.ac.ir/article-1-792-en.html