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雌激素受体(ER)是雌激素的结合位点,是信号转导的始发站。研究表明,人ER有α和β两种亚型,由不同的基因编码,两者均存在多种遗传多态性,从而可能影响ERα和ERβ的表达和功能,因此与许多雌激素相关性疾病的发生和发展有着密切关联。目前国内外研究较多的是乳腺癌、子宫内膜异位症、子宫肌瘤等疾病与ER基因多态性的关系。本文就ER结构、ER基因常见遗传多态性及其与女性六种疾病(子宫内膜异位症、子宫肌瘤、子宫内膜癌、绝经后骨质疏松、原因不明月经过少及复发性流产)相关性的研究进展进行综述。
Estrogen receptor (ER) is the estrogen binding site, is the initiator of signal transduction. Studies have shown that human ER α and β are two subtypes, encoded by different genes, both exist a variety of genetic polymorphisms, which may affect the expression and function of ERα and ERβ, and therefore associated with many estrogen-related diseases The occurrence and development are closely linked. At present, more studies at home and abroad are breast cancer, endometriosis, uterine fibroids and other diseases and ER gene polymorphisms. This article on the ER structure, ER gene common genetic polymorphisms and six female diseases (endometriosis, uterine fibroids, endometrial cancer, postmenopausal osteoporosis, unexplained menstruation and recurrent Abortion) related to the research progress are reviewed.