Objective: To investigate the association between methylentetrahydrofolate reductase (MTHFR) polymorphisms and risk of lung cancer.
Methods: Totally 505 cases with lung cancer and 500 frequency-matched controls were genotyped for the MTHFR C677T and A1298C polymorphisms by polymerase chain reaction-restriction fragment length polymorphism methods. The odds ratios (OR) and 95% confidence intervals (CI) were calculated using unconditional logistic regression model. Haplotype frequency was estimated using EH software.
Results: The frequency of the MTHFR C677T allele in cases was significantly higher than that in controls (53.5% vs 44.9%, P < 0.001). Compared with the 677CC genotype, the 677CT and 677TT genotypes were associated with increased risk of lung cancer, with the OR being 1.43 (95% CI, 1.04-1.95) and 2.40 (95% CI, 1.61-3.59), respectively. In addition, a significant difference in the distribution of haplotype frequencies between cases and controls was observed.
Conclusion: Functional polymorphism in MTHFR is associated with increased risk of lung cancer in Chinese population.