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Background  The incidence of colorectal cancer (CRC) has increased during recent years in Iran and other developing countries. Clinical studies suggest that essential folate dietary intake and moderate deficiency of methylenetetrahydrofolate reductase  (MTHFR ) may protect and reduce the risk of CRC. The present study aimed to investigate the clinical significance of C677T polymorphism within the  MTHFR  gene and its correlation with the serum folate and Vit B 12  in the Iranian population suffering from CRC.    Methods  Blood samples were taken from 1017 Iranian individuals (517 cases and 500 controls) who were referred for colonoscopy. TaqMan probe assay was performed for C677T  MTHFR  polymorphism. Sera were fractionated from the blood samples of 43 patients and controls and folate and Vit B 12  concentrations were measured by a monobind kit. The correlation of  MTHFR  polymorphisms and folate/vitamin-B 12  with CRC risk was analyzed.    Results  In the current study, we found the frequency of three different genotypes of  MTHFR  polymorphism in the Iranian population i.e., CC, CT, and TT, to be 51.31, 26.73, 21.96 and 61, 32.2, 6.8 in case and control groups, respectively. The homozygote genotype of  MTHFR  rs1801133 polymorphism is associated with an increased risk of CRC by 3.68, 1.42, and 3.74-fold in codominant, dominant, and recessive models respectively (p value < 0.01). Our study revealed that there was no significant difference between the amount of folate and Vit B12 in the case and control groups (p value > 0.05).    Conclusions  This study revealed that there was no significant difference between the amount of folate and Vit B 12  in the case and control groups. Furthermore, our results demonstrated a higher risk association for 677TT and 677TT + C677T genotypes of  MTHFR  compared with 677CC carriers among CRC patients.

Association of MTHFR C677T variant genotype with serum folate and Vit B12 in Iranian patients with colorectal cancer or adenomatous polyps