乳腺癌易感性与CYP19基因rs4646、rs1008805多态性的相关性  

rs4646, and rs1008805 polymorphism in CYP19 and breast cancer susceptibility in Zhejiang population

作　　者：邵喜英[1] 许涌[4] 苏丹[3] 许凯声[5] 冯建国[3] 牟翰舟[3] 徐笑红[2] 陈占红[1] 王晓稼[1] 

机构地区：[1]浙江省肿瘤医院化疗中心,杭州310022 [2]浙江省肿瘤医院检验中心 [3]浙江省肿瘤研究所 [4]浙江大学附属第二医院国际保健中心 [5]浙江大学附属第二医院检验科

出　　处：《中华实验外科杂志》2009年第4期431-433,共3页Chinese Journal of Experimental Surgery

基　　金：浙江省自然科学基金资助项目（Y206856）

摘　　要：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×列表，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AA、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（C／A）和rs1008805（A／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rs4646、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 gene on genetic susceptibility for breast cancer in Zhejiang population. Methods 233 breast cancer 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 4;. 6% ,41.6%, 10. 7% and 52.8% ,3Z. 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 between rs4646 ,and rs1008805 polymorphism and pathological features. Conclusion There may be no relationship between rs646, and rs1008805 polymorphism in CYP19 gene and breast cancer susceptibility in Zhejiang population. Rs4646, and rs1008805 polymorphism in CYP19 may not be promising candidate locus for breast cancer susceptibility in clinical genetic test.

关 键 词：乳腺癌 基因多态性 等位基因 

分 类 号：R737.9[医药卫生—肿瘤]