目的:研究雌激素受体α(ESR1)基因单核苷酸多态性(SNPs)与乳腺癌易感性的关系.方法:运用聚合酶链反应(PCR)和限制性片段长度多态性(RFLP)分析的方法检测193例中国汉族女性乳腺癌患者和71名正常女性对照者ESR1基因上rs11155816位点的基因型,以SPSS 11.0软件卡方检验处理数据.结果:rs11155816位点等位基因频率符合Hardy-Weinberg遗传平衡定律.rs11155816位点的等位基因及基因型与患者肿瘤位置及是否存在远处转移相关,差异有显著性(P＜0.05);与年龄、大小、组织学类型、受体表达无关.rs11155816位点等位基因及基因型频率在乳腺癌人群与正常对照者间分布差异有显著性,乳腺癌人群中等位基因A频率高于正常人群(23.8%比15.5%,P＜0.05).结论:rs11155816位点基因的多态性与乳腺癌患者的肿瘤位置和远处转移相关,等位基因A携带者乳腺癌发病风险较高.%Objective : To study the association between single nucleotide polymorphisms( SNPs ) in the estrogen receptor alpha gene( ESR1 ) with breast cancer risk and different tumor clinical pathological characteristics. Methods : We evaluated the association of SNP rs11155816 genopype with breast cancer risk among 193 cases and 71 controls in a population - based , case - control study by PCR - RFLP based methods. SPSS 11. 0 software was employed for data analysis. Results : The allele frequency of rs11155816 meeted Hardy - Weinberg equilibrium. The allele and genotype frequency of rs11155816 were positively associated with tumor site of patients, metastasis and stage of tumors( P ＜ 0. 05 ),but no significant association between polymorphism and age , size, tissue type and hormonal recepter status was found. The distrihution of rs11155816 genotype was significantly different between patients and normal people . The frequency of A allele in breast cancer patients was higher than that in healthy controls ( 23 . 8 ％ vs 15. 5％ , P ＜ 0. 05 ). Conclusion : rs11155816 polymorphisms is statistically associated with the tumor site of patients , metastasis status and stage of tumors. People with allele A were found to be associated with an increased risk of breast cancer.
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