An increased risk of differentiated thyroid carcinoma in Iran with the 677C→T homozygous polymorphism in the MTHFR Gene

Abstract Background : Methylenetetrahydrofolate reductase (MTHFR) involves in folic acid metabolism which influences DNA methylation. A single nucleotide polymorphism (SNP) called 677C→T in MTHFR gene causes producing a thermolabile enzyme with reducing function and eventually defects DNA methylation. To determine association between germ-line polymorphism in MTHFR gene with differentiated thyroid carcinoma (DTC), this preliminary study was designed. Methods : This was a case-control study of 154 DTC patients and 198 cancer free individuals. Genotyping was performed by a multiplex PCR method and the frequencies of the 677C→T SNP in cases and controls were compared. The risk estimation was done by multivariate logistic regression analysis. Results : Compared to CC genotype, an increased risk of DTC for the 677C→T homozygous genotype was demonstrated (odds ratio [OR]: 2.08, 95% confidence interval [CI]: 0.82–5.25). Also, multivariate analysis demonstrated an increased risk of DTC in recessive fashion (TT vs . CC or CT) (OR: 2.38, 95% CI: 0.97–5.82). Conclusion : The MTHFR 677C→T homozygous variant allele may be associated with increased risk of DTC.