Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms in oral squamous cell carcinoma in south-east Iran

Abstract

Background: Methylenetetrahydrofolate reductase (MTHFR) gene encodes an essential enzyme involving in folate metabolism. Due to the role of folate in DNA integrity, polymorphisms of MTHFR are interesting targets for cancer risk studies. Our goal was to evaluate the prevalence of MTHFR C677T and A1298T single nucleotide polymorphisms in oral squamous cell carcinoma (OSCC).

Methods: The study was conducted on 57 OSCC patients diagnosed within 2004-2013 along with 62 non-OSCC subjects. DNA was extracted by standard kit protocol. Subsequently, tetra-ARMS (amplification refractory mutation system)-PCR was applied to identify the selected polymorphisms.

Results: Data showed that CT and TT genotypes of C677T polymorphisms significantly increased the risk of OSCC [odds ratio (OR) = 2.2, 95% CI: 1-5, P = 0.04]. Although allelic distribution was not significantly different between patients and controls, T allele of C677T polymorphism was closely associated with the risk of OSCC (OR = 2.5; 95% CI: 0.9-6.9; P = 0.07). Results indicated that C677T/A1298C: CC/AC and C677T/A1298C: CC/AA haplotypes were the most common combinations in OSCC patient and control groups, respectively. (OR = 1.5, 95% CI: 0.6-3.8, P > 0.05).

Conclusion: Our results highlight the possible impact of C677T polymorphism in increasing the risk of OSCC development.

Keywords: methylenetetrahydrofolate reductase; oral squamous cell carcinoma; single nucleotide polymorphism.