Borghese B, Zondervan K T, Abrao M S, Chapron C, Vaiman D
Cochin Institute, U1016 INSERM, CNRS 8104, Université Paris Descartes, Paris, France.
Department of Gynecology Obstetrics II and Reproductive Medicine, Faculté de Médecine, AP-HP, Groupe Hospitalier Ouest, Centre Hospitalier Universitaire Paris Centre, Paris, France.
Clin Genet. 2017 Feb;91(2):254-264. doi: 10.1111/cge.12897. Epub 2016 Nov 30.
Endometriosis is a gynecologic disease affecting up to 10% of the women and a major cause of pain and infertility. It is characterized by the implantation of functional endometrial tissue at ectopic positions generally within the peritoneum. This complex disease has an important genetic component with a heritability estimated at around 50%. This review aims at providing recent insights into the genetic bases of endometriosis, and presents a detailed overview of evidence of epigenetic alterations specific to this disease. In the future, these alterations may constitute therapeutic targets for pharmacological compounds able to modify the epigenetic code.
子宫内膜异位症是一种妇科疾病,影响着多达10%的女性,是疼痛和不孕的主要原因。其特征是功能性子宫内膜组织植入通常位于腹膜内的异位位置。这种复杂的疾病具有重要的遗传成分,遗传度估计约为50%。本综述旨在提供对子宫内膜异位症遗传基础的最新见解,并详细概述该疾病特有的表观遗传改变的证据。未来,这些改变可能构成能够修饰表观遗传密码的药物化合物的治疗靶点。