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.
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