雌激素受体基因多态性与乳腺癌的关系

目的：研究雌激素受体α（ESR1）基因单核苷酸多态性（SNPs）与乳腺癌患者临床病理特征和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RS2077647位点的基因型，以SPSS 11.0软件卡方检验处理数据。结果：①RS2077647位点等位基因频率符合Hardy-Weinberg遗传平衡定律；②RS2077647位点的等位基因及基因型与患者年龄、肿瘤大小及PR表达相关，不同年龄组、不同肿瘤大小组和孕激素受体（PR）阴性与阳性组间，RS2077647的等位基因和基因型的频率不同，差异有显著性（P＜0.05）；③RS2077647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无显著性（P＞0.05）。结论:RS2077647位点基因的多态性与乳腺癌患者的年龄、肿瘤大小及PR表达相关，与乳腺癌易感性无关。

Relationship between ESR1 gene polymorphisms and breast cancer susceptibility

Objective To study the association of single nucleotide polymorphisms (SNPs) in the estrogen receptor alpha gene(ESR1) with breast cancer susceptibility and different tumor clinical pathological characteristics. Methods The PCR-RFLP method was used to examine ESR1 genotype in 193 women with breast cancer and 71 healthy women. The potential role of the ER alpha genotype in estrogen receptor (ER), progesterone receptor (PR), cerbB2 expression and some other clinical pathological manifestations were assessed by SPSS 11.0 software. Results ①The allele frequencies of RS2077647 accorded with Hardy-Weinberg equilibrium;②The allele and the genotype frequencies of RS2077647 were positively associated with the age of patient, the size of the tumor and PR expression. The distributions of allele and genotype frequencies of RS2077647 were statistically different in breast cancer patients sub-groups classified by age, tumor size and PR expression (P<0.05); ③The distributions of RS2077647 genotype had no significant difference between the patients and healthy women. Conclusion RS2077647 polymorphisms is positively associated with the age of the patient, the size of the tumor and PR expression. It has no relationship with breast cancer susceptibility.