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Abstract: The CYP19A1 gene encoding aromatase P450, a key enzyme in estrogen metabolism, catalyzes the conversion of testosterone to estradiol and androstenedione to estrone. It is generally believed that polymorphisms in genes encoding key enzymes involved in these pathways could affect the activity of enzymes, which can change the level of endogenous hormones. Therefore, genetic polymorphisms in hormone-related genes could increase the breast cancer susceptibility. In this study, 60 breast cancer women’s blood samples and 50 control blood samples were analyzed to identify the genotype frequencies at SNP loci rs10046 C>T and rs2236722 Trp39Arg (T>C) on CYP19A1 using PCR-RFLP and PCR-CTPP, respectively. The data were analyzed to determine the association between these polymorphism loci and susceptibility to breast cancer. The result shows that, the genotype frequencies at SNP rs10046 in the controls were CC (14%), CT (48%), TT (38%); in the infected group were CC (18.33%), CT (58.33%) and TT (23.34%); and at SNP rs2236722, in the control group: TT (94%), TC (6%); in the infected group: TT (90%), TC (10%). The OR analysis of the gene carrying the CC and TC genotypes compared with TT genotype at both loci (OR=2.01; 95% CI=0.87–4.67 with rs10046 and OR = 1.74; 95%CI= 0.40 – 7.42 with rs2236722) indicated that these SNP loci in CYP19A1 had no effect on breast cancer susceptibility.
Keywords: Breast cancer, SNP, rs10046, rs2236722, CYP19A1 gene.
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