Genetic and environmental factors may play roles in the pathogenesis of ovarian cancer; we aimed to evaluate the associations between MTHFR C677T and A1298C polymorphism and folate intake with ovarian cancer. A case-control study with 200 ovarian cancer patients and 200 controls were selected in Chinese population from January, 2003 and January, 2006. Genotyping of the MTHFR 677 C4T and 1298 A4C SNPs was performed on the ABI PRISMs 7500 real-time (RT) polymerase chain reaction (PCR) system. Individuals with the TT genotype of C667T polymorphism had an increased risk of developing ovarian cancer (Adjusted OR = 1.76, 95% CI = 1.03 to 3.38) and an increased risk also found in 1298 CC genotype with OR (95% CI) of 2.14 (1.15 to 5.76). Individuals with daily folate consumption > 335 µg/day had a lower risk of ovarian cancer, with an adjusted OR (95% CI) of 0.50 (0.25 to 0.97). The 1298CC genotype was related to a poor survival of ovarian cancer (HR = 2.11, 95% CI = 1.13-4.61). We observed that high folate intake may have a protective role in the development and prognosis of ovarian cancer, and MTHFR gene polymorphisms may be associated with ovarian cancer risk and its prognosis.

Key words: Methylenetetrahydrofolate reductase gene, ovarian cancer, folate intake.