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.
出处
《中国公共卫生》
CAS
CSCD
北大核心
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)
关键词
雌激素受体Α
维生素D受体
多态性
乳腺癌
estrogen receptor alpha
vtamin D receptor
polymorphism
breast cancer
