Association of the C677T Polymorphism in the MTHFR Gene with Risk of Oral Squamous Cell Carcinoma in South Indian Population

Abstract

Background: The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with reduced enzyme activity, and a significant increase in serum homocysteine (Hcy) concentration. MTHFR C677T polymorphism was likely to play an important role in the susceptibility to OSCC. Methods: In this case-control study, we genotyped 150 OSCC patients and 150 controls, using a PCR-RFLP method. The serum total homocysteine levels were quantitatively detected using commercial enzyme immunoassay (EIA) kits from AxisShied Diagnostics Ltd, UK. Results: In the present study heterozygous CT genotype was found statistically significantly more prevalent in patients than in controls [OR 3.38, 95%CI 146-7.79, p-value 0.004], whereas TT genotype was not statistically significant [OR 2.01, 95%CI 0.18-22.4, p-value 0.05]. CC genotype may be protective for OSCC [OR 0.30, 95%CI 0.13-0.67, P-value 0.003]. The mean serum tHcy levels (mmol/L) 15.0 were higher in cases in all three CC (26.81±7.51), CT (29.26±7.67) and TT (48.85±28.07) genotypes when compared to CC (17.85±2.18), CT (17±1.0) and TT (0) with controls. However, significant variation of homocysteine levels was not observed between the genotypes of OSCC patients and controls. Conclusion: The results of the present study indicate that the frequency of MTHFR 677 ‘T’ allele is rare and CT genotype may be associated with OSCC risk. However, the polymorphisms in the MTHFR gene (677C/T) that are reported to modulate homocysteine levels were not associated with OSCC.