Association of MTHFR, MTRR and MTR polymorphisms with breast cancer risk: a study in Chinese females

Literature revealed that folate metabolism imbalance may be involved in predisposition to cancer. MTHFR, MTRR and MTR are essential enzymes for maintenance of folate hemostasis and homocysteine (Hcy) in the blood. We aimed to investigate the association between homocysteine metabolism gene polymorphism (MTHFR rs1801133, MTR 1805087 and MTRR rs1801394) and risk of breast cancer in West China. A total of 466 patients with breast cancer and 470 normal control subjects were enrolled into our study. The MTHFR rs1801133, MTR 1805087 and MTRR rs1801394 polymorphism was analyzed by the polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). By logistic regression analysis, we observed that the CT (adjusted OR=2.67, 95% CI=1.60-4.45) and TT (adjusted OR=2.67, 95% CI=1.60-4.45) genotypes of MTHFR rs1801133 were significantly associated with higher risk of breast cancer, compared with the CC genotype. In addition, the CT+ TT of MTHFR rs1801133 was significantly associated with risk of breast cancer in comparison to the CC genotype (adjusted OR=1.43, 95% CI=1.09-1.88). The CC genotype of MTRR rs1801394 showed higher association with an increased risk of breast cancer as compared with the AA genotype (adjusted OR=1.96, 95% CI=1.14-3.37). The results of our study indicate that the MTHFR rs1801133 and MTRR rs1801394 polymorphisms are potential risk factors for the development of breast cancer in the Chinese population.