Polymorphisms in the estrogen receptor β gene but not estrogen receptor α gene affect the risk of developing endometriosis in a Japanese population

Abstract

Objective To determine whether polymorphisms in the estrogen receptor (ER) α and β genes are associated with endometriosis in a Japanese population. Design Association study. Setting University hospital. Patient(s) Japanese women diagnosed with endometriosis by laparotomy or laparoscopy. Intervention(s) Determination of polymorphisms in the ERα and ERβ genes was performed by polymerase chain reaction restriction fragment-length polymorphism analysis in 132 affected women and 182 controls. Main outcome measure(s) Frequency and distribution of AluI and RsaI polymorphisms in ERβ gene and of PvuII and XbaI polymorphisms in ERα gene. Result(s) No significant differences in the frequency of either AluI and RsaI polymorphisms in the ERβ gene or of XbaI and PvuII polymorphisms in the ERα gene were found between endometriosis patients and controls. However, a positive association was noted between the AluI polymorphism in the ERβ gene and stage IV endometriosis patients in the population studied. Conclusion(s) The AluI polymorphism in the ERβ gene is associated with an increased risk of stage IV endometriosis in a Japanese population.