雌激素受体（ESR）基因多态性与疾病相关性的研究进展  

Advances in the ESR Gene Polymorphism with Disease Association

作　　者：龙丽[1] 单可人[1] 任锡麟[1] 

机构地区：[1]贵阳医学院分子生物学重点实验室,550004

出　　处：《国际遗传学杂志》2008年第2期124-128,共5页International Journal of Genetics

基　　金：基金项目：贵州省省长基金（黔科教办[2005]14号）;贵州省科技厅科研基金项目资助（黔科合J字[2005]2016号）

摘　　要：雌激素受体是一种受配体激活的转录因子，由配体结合区、DNA结合区、转录激活区组成。雌激素受体对于对雌激素敏感的组织是一个重要的调节元件，如子宫内膜、乳腺、骨组织、肝脏等。雌激素的功能是刺激组织的增殖、分化，因此受体功能的变化可能有重要的临床意义。雌激素受体基因的多态性，单倍构型与它的生物学功能是相关的，研究认为ESR基因多态性与乳腺癌、骨质疏松症、HBV感染、子宫内膜异位症、冠心病等疾病存在相关性。该研究从雌激素受体的结构、功能与疾病的相关性方面作一综述。The estrogen receptor （ESR） is a ligand-activated transcription factor composed of several domains important for hormone binding, DNA binding, and activation of transcription. The estrogen receptor is an important mediator of the hormonal response in estrogen-sensitive tissues such as the endometrium, breast, bone, liver. Since ESR function is reflected in the proliferation of these tissues, it is plausible that variations in the functions of the receptor can have clinically significant effects. Polymorphism in the ESR gene, hypothetically related to biological function, have inconsistently been associated with breast cancer, osteoporosis, HBV infection, endometriosis, coronary heart disease. We summarize the progress of ESR from the aspects of structures, functions as well as the relations with human diseases in the paper.

关 键 词：雌激素受体 基因多态性 相关性 

分 类 号：R3[医药卫生—基础医学]