Progression of the relationship between estrogen receptor gene polymorphisms and gynecologic diseases

Estrogen receptor,the binding site of estrogen,is the first stage of its signal transduction pathway.Researches show that human ER has two subtypes,α and β,they are coded by different genes,both of them have several kinds of genetic polymorphisms,it may influence their expression and functions,thus associating intimately with estrogen-dependent diseases.Studies have been made on the relationship between estrogen receptor gene polymorphisms and various of gynecologic diseases,especially the breast cancer,endometriosis and hysteromyoma,but their results are inconsistent.This review summarizes current studies on ER construction,ER genetic polymorphisms and correlation between ER gene polymorphisms and endometriosis,hysteromyoma,endometrial carcinoma,postmenopausal osteoporosis,unknown aetiology hypomenorrhea and recurrent spontaneous abortion.