目的 探讨乳腺癌易感性与CYP19基因rs4646(C/A)、rs1008805(A/G)多态性的相关性.方法 采用病例对照研究,应用TaqMan法检测233例浙江地区乳腺癌患者及180例正常人CYP19基因rs4646、rs1008805多态性,基因型分布和乳腺癌发病风险、患者年龄、月经状态及肿瘤临床病理特征的关系采用行x列表X2检验;危险度比值比(OR)及95%可信区间(CI)运用非条件Logistic回归分析计算.结果 (1)病例组中,CYP19基因rs4646(C/A)位点CC、AC、AA基因型的频率分别为47.6%、41.6%、10.7%,而对照组中则分别为52.8%、38.3%、8.9%;病例组中,C、A等位基因的频率分别为68.5%、31.5%,而对照组中则分别为71.9%、28.1%.以CC型为对照,AC、AA型没有增加乳腺癌的发生风险(P>0.05),经年龄分层,亦未发现其与乳腺癌易感性相关.(2)病例组中,CYP19基因rs1008805(A/G)位点从、AG、GG基因型的频率分别为44.6%、43.3%、12.0%,而对照组中则分别为51.4%、40.2%、8.4%;病例组中,A、G等位基因的频率分别为66.3%、33.7%.而对照组中则分别为71.5%、28.5%.以AA型为对照,AG、GG型没有增加乳腺癌的发生风险(P>0.05),经年龄分层,亦未发现其与乳腺癌易感性相关.(3)CYP19基因rs4646(CA/A)和rs1008805(X/G)多态性与乳腺癌患者年龄、月经状况及病理特征均无明显相关.结论 CYP19基因m4646、rs1008805多态性与乳腺癌易感性无明显相关,尚不推荐单独作为未来乳腺癌基因筛查的候选指标.
Objective To investigate the effect of rs4646, and rs1008805 polymorphism in CYP19 gone on genetic susceptibility for breast cancer in Zhejiang population. Methods 233 breast canc-er patients and 180 healthy controls were involved in the study. Genotype analysis was performed through TaqMan assay. The odd ratios (OR) and 95% confidence intervals (CI) were calculated by unconditional Logistic regression model. Results (1) The frequency of CC, AC, and AA genotype of rs4646 in case group and controls was 47.6%, 41.6%, 10.7% and 52.8% ,38.3%, 8.9%, respectively. The frequency of C,and A allele in case group and controls were 68.5%, 31.5% and 71.9%, 28.1%, respectively. No significant association was found between rs4646 polymorphism and breast cancer susceptibility. (2) The frequency of AA,AG,GG genotype of rs1008805 in case group and controls was 44.6%, 43.3%,12.0% and 51.4%, 40.2%, 8.4%, respectively. The frequency of A, and G allele in case group and controls was 66.3%, 33.7% and 71.5%, 28.5%, respectively. No significant association was found between rs1008805 polymorphism and breast cancer susceptibility. (3) No significant association was found be-tween rs4646, and rs1008805 polymorphism and pathological features. Conclusion There may be no rela-tionship between rs646,and rs1008805 polymorphism in CYPI9 gone and breast cancer susceptibility in Zhejiang population. Rs4646, and rs1008805 polymorphism in CYP19 may not be promising candidate lo-cus for breast cancer susceptibility in clinical genetic test.