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

Document Type : Research Paper


1 Pars Advanced and Minimally Invasive Medical Manners Research Center, Pars Hospital, Iran University of Medical Sciences, Tehran, Iran

2 Fertility and Infertility Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran

3 Department of Biology, Emory University, 1510 Clifton Rd. Atlanta, GA 30322 & ndash; USA


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.

Graphical Abstract

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


  • 5,10-methylenetetrahydrofolate gene may cause impairment of cell function and a variety of cancers like prostate and colorectal cancers.
  • MTHFR C677T and A1298C polymorphism can increase the susceptibility risk of colorectal cancer.
  • There are significant associations between genotypes 677CT and 677TT with colorectal cancer risk.
  • Inflammatory mechanisms are associated with the disorders of female reproductive system.


Main Subjects

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