ERβ基因多态性与新疆维吾尔族和汉族女性乳腺癌相关性研究  

Correlation between ERβ gene polymorphism and breast cancer of Uyghur nationality and Han nationality in Xinjiang area

作　　者：朱琳[1] 李迅[1] 刘炜[1] 马小平[1] 赵振慧[1] 杨顺娥[1] 

机构地区：[1]新疆医科大学附属肿瘤医院淋巴瘤乳腺癌内科,新疆乌鲁木齐830011

出　　处：《中华肿瘤防治杂志》2015年第20期1585-1591,共7页Chinese Journal of Cancer Prevention and Treatment

基　　金：新疆维吾尔自治区科技厅自然科学基金面上项目(2013211A068)

摘　　要：目的雌激素受体β基因（estrogen receptorp，ERβ）为雌激素受体（estrogen receptor，ER）亚型之一，有2个常见多态位点，不同个体ERβ的表达水平和功能可能受其基因多态性的影响，本研究探讨ERβ基因RsaI多态性与新疆维吾尔族和汉族女性乳腺癌易感性的关系。方法选择2013-01-01—2014-09—30新疆医科大学附属肿瘤医院初次诊断为原发性乳腺癌的维吾尔族患者130例和汉族患者120例，选择本院同期健康体检者维吾尔族125名和汉族118名。应用聚合酶链反应一限制性内切酶片段长度多态性（polymerase chain reaction-restriction fragment length polymorphism,PCR—RFLP）方法检测入选对象ERβ基因RsaI位点多态性，比较该位点多态性与新疆维吾尔族和汉族女性乳腺癌易感性的关系。结果维吾尔族和汉族两民族病例组、对照组基因型分布及等位基因频率差异均有统计学意义，P〈0．05。在维吾尔族中，病例组与对照组的基因型分布差异及等位基因频率差异无统计学意义，P〉0．05；在汉族中，病例组与对照组的基因型分布及等位基因频率差异均有统计学意义，P〈0．05。以rr基因型为对照，非条件Logistic回归分析发现，汉族妇女中，无多产史（OR=0．466，95％CI为0．234～0．928，P〈0．05）和无乳腺良性病史（OR=0．421，95％CI为0．204-0．869，P〈0．05）的Rr型乳腺癌发病风险降低。结论维吾尔族和汉族两民族ERβ基因RsaI基因型分布和等位基因频率差异有统计学意义。携带Rr基因型可能降低新疆汉族妇女乳腺癌易感性。OBJECTIVE Estrogen receptor β gene （ERβ） has two common polymorphism locis, which is a subtype of estrogen receptor （ER）, different individual expression level and function of ER13 may be affected by the ERβ gene polymorphism. The objective of this study is to investigate the relationship of ERβ Rsa I polymorphism with susceptibility to breast cancer in patients of Uyghur and Han. METHODS A total of 493 women including 130 Uyghur cases, 125 Uyghur controls, 120 Han cases and 118 Han controls were enrolled to determine the Rsa I polymorphism of ERβ using PCR-RFLP method. Then the relationship of ERβ Rsa I polymorphism with breast cancer susceptibility was analyzed. RESULTS Significant differences of ERβ Rsa I genotypes and allele frequencies were observed between cases and controls in whole group （P〈0.05）. However, in Uyghur group, there were no significant differences of ERβ Rsa I polymorphism between cases and controls （P〉0.05）. While, in Han group, our finding showed significant differences of ERβ Rsa I polymorphism between cases and controls （P〈0.05）. We also found that compared with those carrying rr genotype, the population carrying Rr genotype without fertility or benign breast diseases showed decreased risk of breast cancer in Han group （OR=0. 466, 95%CI was 0. 234-0. 928, P〈0.05;OR：0. 421, 95%CI was 0. 204-0. 869, P〈 0.05）. CONCLUSIONS Our data shows significant difference of ERβ Rsa I polymorphism between cases and controls in Uyghur and Han groups. People of Han carrying Rr genotype may have a decreased risk of breast cancer in Xinjiang.

关 键 词：乳腺肿瘤 雌激素受体β基因 维吾尔族 汉族 基因多态性 

分 类 号：R737.9[医药卫生—肿瘤]