Association of CYP1A1 IIe462Val (rs1048943) Polymorphism with Breast Cancer in Iranian Women

Backgrounds and Aims: One member of the cytochrome P450 family, CYP1A1, is one of the genes involved in the metabolism of carcinogens and estrogen, which has been identified to be associated with breast cancer, as well. Considering the known effect of estrogen in different signaling pathways, disorders in these pathways will affect the risk of breast cancer. In this study, we evaluated the relationship between rs1048943 polymorphism of CYP1A1 gene and the risk of breast cancer in a population of Iranian women. Materials and Methods: This case-control study was conducted on 79 patients with breast cancer and 79 healthy women at shohad-e-tajrish hospital. After genomic DNA extraction from peripheral blood cells using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, the genotype of the participants was identified. Then, the relationship between A/G polymorphism and the disease risk was analyzed using SPSS version 23. Results: The mean age of the patients and controls was 48±8 and 43±6 years, respectively. the results showed that the frequency of the G allele had a significant difference between cases and controls. Accordingly, the presence of the G allele, as a risk allele, increased the chance of breast cancer in the carriers of this allele by at least a factor of 2.33 in comparison with people without this allele (OR=2. 33, %95 CI:1.21-4.37, p=0. 006). Conclusions: Our findings showed a significant correlation between the CYP1A1 gene polymorphism and increased risk of breast cancer in a population of Iranian women.