ESRα和VDR基因多态性与乳腺癌易感性关系  

Association between polymorphisms of estrogen receptor alpha and vitamin D receptor gene and breast cancer risk

作　　者：白永恒[1] 陆红[1] 黄友泽 梁勇[1] 张行[1] 刘乐平[1] 潘晓东[1] 陈必成[1] 

机构地区：[1]温州医学院附属第一医院外科实验室,浙江温州325000 [2]浙江省温州市第八人民医院检验科

出　　处：《中国公共卫生》2010年第12期1525-1527,共3页Chinese Journal of Public Health

基　　金：温州市鹿城区科技计划项目(S10106)

摘　　要：目的探讨雌激素受体α（ESRα）、维生素D受体（VDR）基因多态性与乳腺癌发病风险关系。方法选取189例乳腺癌患者和374名非癌女性对照人群为研究对象,应用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和测序检测ESRα基因rs2234693和rs9340799位点、VDR基因rs10735810位点的多态性。结果 ESRα基因rs9340799位点等位基因G在病例组的分布频率（15.08%）明显低于对照组（22.46%）（P=0.002）,与等位基因A相比,经年龄校准的OR=0.580（95%CI=0.413~0.815）;ESRα基因单体型CG在病例组的分布频率（13.7%）明显低于对照组（20.6%）（P=0.005）,复合基因型CCGG在病例组的分布频率（1.59%）也明显低于对照组（5.61%）（P=0.025）,其OR值分别为0.614（95%CI=0.436~0.864）和0.271（95%CI=0.080~0.921）。结论 ESRα基因rs9340799位点多态性与乳腺癌发病紧密相关,携带有等位基因G,单体型CG或复合基因型CCGG的个体患乳腺癌的风险较低。Objective To investigate the associations between polymorphisms of the estrogen receptor alpha,vitamin D receptor gene and breast cancer risk.Methods Totally 189 breast cancer patients and 374 non-cancer female controls were selected.The genotypes were detected by PCR-RFLP and confirmed by sequencing.Results The frequency of rs9340799 G allele was 15.08% in the cases and significantly lower than that of in the controls（22.46%）,and the cancer risk was decreased compared with A allele（odds ratio=0.580,95% confidence interval：0.413-0.815）.Haplotype CG and multiplex genotype CCGG was associated with a decreased risk of breast cancer with the ORs of 0.614（95%CI：0.436-0.864）,0.271（95%CI：0.080-0.921）,respectively.Conclusion rs9340799 polymorphism in ESRα gene is related to breast cancer risk and individuals with allele G,halpotype CG or multiplex genotype CCGG have decreased risk of breast cancer.

关 键 词：雌激素受体Α 维生素D受体 多态性 乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]