子宫内膜异位症(EMs)是妇科常见病,以痛经和不孕为主要症状,其发病机制目前尚不确定。近年大量基础实验和临床检测资料表明,其发病过程是以在位内膜的不同生物学特性,甚至基因差异决定的。结合国外近5年研究,对EMs的遗传基因流行病学及EMs患者在位子宫内膜与正常子宫内膜分子水平的差异进行探讨,为EMs的诊治提供更为有效的手段。 Endometriosis (EMs) is a common gynecological disease, with dysmenorrhea and infertility as the main symptoms, the pathogenesis is not yet confirmed. In recent years, a large number of basic experimental and clinical test data show that the pathogenesis of eutopic endometrium in different biological characteristics, or even genetic differences. Based on the researches in the past five years, the genetic epidemiology of EMs and the differences between eutopic endometrium and normal endometrium of EMs patients are discussed, which provide a more effective method for the diagnosis and treatment of EMs.