Associations between Estrogen Receptor Gene Polymorphisms and Endometriosis

Abstract

Endometriosis is common estrogen-related gynecological diseases related to interactions of dietary, genetic causes, social and environmental factors. The high prevalence approaches 5-15% in premenopausal women and 30% in infertile women, and it is unusual to occur after the onset of menopause. In this review, the gene polymorphisms of estrogen receptor (ER) α and β re-lated to the risks of endometriosis were investigated through statistical analysis by using the gene polymorphism for the risks of the disease examined trends. The polymorphism of ERα -PvuII in Europe tends to increase the risk of endometriosis and, ERα -XbaI polymorphisms in both Asia and Europe have a slightly increased risk of endometriosis. In the case of ERβ -RsaI, the risk of endometriosis increases in Brazil, while the polymorphism of ERβ -AluI reduces the disease risks in Asia. Polymorphism studies on ER associated with the risk of endometriosis in Asia and Europe showed that those polymorphisms may be used to predict the high or low risks of endometriosis, and potentially used for prevention, therapy or prognosis of endometriosis. Further studies on interacting with more related genes and environmental factors may provide a better understanding of associations between estrogen receptor gene polymorphisms and endometriosis. (J Korean Soc Menopause 2013;19:64-73)