Polymorphism in MnSOD Gene and Breast Cancer Risk in Kashmiri Patients: a Case Control Study

Reactive oxygen species (ROS) have been implicated in the etiology of many human diseases. Antioxidant enzymes such as MnSOD protects cells from oxidative stress and generation of ROS. A case control study, with aim to evaluate the relationship between MnSOD Ala-9Val polymorphism and breast cancer was carried out. The study included 522 subjects, including 255 cases and 267 controls, 12 samples were missing or yielded no results. Genotyping of samples were carried out using PCR-RFLP method. We observed that neither of two conditions heterozygous (MnSOD Val/Ala) or Variant/(MnSOD Ala/Ala) was significantly associated with overall breast cancer risk. The frequencies of Val and Ala allele was almost similar in cases, however, a significant association was seen in case of older women (above 45 years of age) (OR =1.98, CI=1.07-3.66, P=0.04). Also ORs were elevated in case of women using oral contraceptives carrying Val/Ala genotype. (OR=2.20; CI=0.54-8.96). In conclusion MnSOD Ala-9Val polymorphism may modify the risk for breast cancer development particularly in presence of age above 45years, oral contraceptives, and urban life style