Evaluation of GSTP1 Rs 4986949 Polymorphism Dispersion in Patients with Breast Cancer Refered to the Clinics of Mazandaran University of Medical Sciences

Background and Purpose: Breast cancer is one of the most costly diseases due to its high prevalence and its social and economic consequences are very important for our society .on the other hand, women as mothers, one of the organ of the family, are involved in society, and this disease effects people of different ages with maximum personal and social activity, which, if not diagnosed and treated in a timely manner, without exception, the suffering person will die from the disease. Glutathione S-transferases ,the gene family, are a multi-functional enzyme that plays a key role in the detoxification of electrophilic compounds such as carcinogens, peripheral toxins, drugs and nutrients, as well as in intracellular transmissions and oxidative stress protection. Research has shown that, in addition to hormonal factors, genetic factors also play an important role in the development of Breast cancer, and since the GSTP1 gene is an enzyme encoder and various gene polymorphisms affect the detoxification process, this study aimed to investigate the evaluation of GSTP1 (rs4986949) polymorphism dispersion in patients with breast cancer referred to the clinics of Mazandaran university of Medical Sciences.Materials and Methods: in this case-control study, 79 clinically diagnosed breast cancer patients and 54 age-matched healthy individuals were included.5 cc peripheral blood were collected from people with breast cancer and healthy subjects in a tube containing EDTA. Genomic DNA was extracted using Salting-out method and finally genotypic polymorphism was evaluated using PCR-RFLP.Results: The frequency of genotypic GT(heterozygote mutant) in comparison with the genotypic frequency of GG (normal homozygote) was significantly different among the population (OR=5/O8, p=o.0020) .It can be said that T allele, probably five times the G allele, increases the risk of developing a disease. Also, due to the frequency of genotypic mutated heterozygote and mutant homozygote (GT+TT)in comparison with the genotypic frequency of normal homozygote (GG) , there was a significant difference (OR=5/O8, p=o.0020). Using HaploReg software (v 4.1) in silico analysis showed that the rs4986949 polymorphism is located in a DNase.Conclusion: The results suggest that patients with Asp 147Tyr have an increased risk for breast cancer and this polymorphism may be a candidate marker for predicting individuals who are at higher risk to breast cancer. and as a result genotypically, polymorphism of GSTP1 (rs4986949) is probably related to breast cancer

کلیدواژه ها:

gene GSTP1(rs4986949) ، polymorphism ، Breast cancer.