Simpson Joe Leigh, Bischoff Farideh
Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.
Reprod Biomed Online. 2003 Sep;7(2):162-9. doi: 10.1016/s1472-6483(10)61746-4.
Endometriosis is inherited in polygenic/multifactorial fashion, with recurrence risks of 5-7% for first-degree relatives. The current task is to determine the number and location of causative genes. This review initially supports the basis for polygenic/multifactorial inheritance and then outlines genome-wide strategies for identifying causative genes. Potential candidate genes are surveyed, and discrepant results emphasized. Finally, a hypothesis for endometriosis, having a multi-step pathogenesis analogous to the pathogenesis of neoplasia, is considered.
子宫内膜异位症以多基因/多因素方式遗传，一级亲属的复发风险为5-7%。当前的任务是确定致病基因的数量和位置。本综述首先支持多基因/多因素遗传的基础，然后概述了全基因组范围内识别致病基因的策略。对潜在的候选基因进行了调查，并强调了不一致的结果。最后，考虑了一个关于子宫内膜异位症的假说，其具有类似于肿瘤形成的多步骤发病机制。
