에스트로겐 수용체 유전자의 다형성과 자궁내막증
Associations between Estrogen Receptor Gene Polymorphisms and Endometriosis
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에스트로겐에 의존적인 자궁내막증은 여러 유전적 원인뿐만 아니라 식습관 및 사회적, 환경적 원인과의 복잡한 상호 작용에 의한 일반적인 질병으로 대부분 폐경 전의 여성에게서 발병하여 가임기 여성의 5-15% 및 불임 여성의 30%로 높은 유병률을 보이며, 흔하지 않게 폐경 후에도 발병하기도 한다. 본 종설에서는 ERα와 β 유전자의 다형성과 자궁내막증의 연관성에 관련된 연구를 조사하고 통계적으로 분석하는 방법을 사용하여 유전자 다형성에 따른 질병의 위험성에 대한 경향성을 살펴보았다. ERα의 PvuII 다형성은 유럽지역에서 자궁내막증의 위험성을 증가하는 경향을, ERα의 XbaI 다형성은 아시아 및 유럽 모두에서 자궁내막증의 위험성을 조금 증가하는 경향을 나타내었다. ERβ의 경우, 아직 연구가 많이 이루어지지 않아 경향성을 정확히 판단할 수는 없지만 ERβ의 RsaI 다형성이 브라질에서는 위험성을 증가시키며, ERβ의 AluI 다형성이 아시아에서는 위험성을 감소시킨다. ER의 다형성이 아시아 및 유럽에서 자궁내막증의 위험성과 연관성을 나타내며, 앞으로 자궁내막증의 위험성을 예측할 수 있는 도구로써 이용될 잠재력을 가지고 있음을 시사하고 있다. 자궁내막증의 발생과 ER 유전자의 다형성과의 연관성을 더욱 잘 이해하기 위해서는 상호작용을 하는 더 많은 유전자와 관련이 있는 여러 환경적 요인에 대한 작용을 연구할 필요가 있다.
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 βre-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.
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