Genetics of endometriosis: a comprehensive review

Abstract

This review aimed to critically evaluate the review, observational, cohort, and case–control studies performed so far in order to assess the association between endometriosis and genetics. The search strategies used included an online search of the MEDLINE database and a manual search of relevant publications and reviews. Additional reports were collected by systematically reviewing all references from the retrieved papers. Family studies have long suggested that genetic factors play a role in the etiology of endometriosis. Nevertheless, until now, studies on candidate genes have revealed inconsistent and contradictory evidence, leading to more questions rather than clear answers. It is possible that recent technological improvements in genetic evaluation could allow for a better understanding of the pathogenic mechanisms of endometriosis in the near future.

摘要

本综述旨在批判性地总结评估迄今为止所发表的综述、观察性研究、队列性研究和病例-对照研究, 探讨子宫内膜异位症与遗传学之间的关系。应用在线检索MEDLINE数据库和手工检索相关出版物或综述的检索方法, 通过系统地审查检索到的所有参考文献来书写本文。长期的家族性研究表明遗传因素在子宫内膜异位症的发病中起着重要作用。然而, 迄今为止, 对候选基因研究的证据是不一致和矛盾的, 尚不存在明确的答案, 这会导致更多的问题。最近在基因评估方面的技术进步有可能使人们在不久的将来更好地理解子宫内膜异位症的发病机制。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Endometriosis
• genic polymorphism
• next-generation sequencing
• hereditary disease

Disclosure statement

No potential conflict of interest was reported by the authors.