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The CYP19A1 gene encodes for aromatase P450, which is a key enzyme in estrogen metabolism, catalyzes the conversation of testosterone to estradiol and androstenedione to estrone. It is generally believed that polymorphisms in genes coding for key enzymes involved in these pathways could effect to 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 blood samples of breast cancer women and 50 control populations were analyzed to identify the genotype frequency 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 showed that, the genotype frequencies at SNP rs10046 in the control as: CC (14%), CT (48%), TT (38%), in case group are CC (18.33%) , CT (58.33%) and TT (23.34%); at SNP rs2236722 in the control group: TT (94%), TC (6%), in case group TT (90%), TC (10%). The OR analyses for 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 have no effect on breast cancer susceptibility.
Breast cancer, SNP, rs10046, rs2236722, CYP19A1 gene
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