子宫内膜异位症的遗传学发病机制研究进展

子宫内膜异位症（EMs）严重影响育龄期女性的健康和生活质量。EMs临床表现多样，大多数女性表现为慢性非周期性盆腔痛、痛经和不孕等，但是EMs的具体发病机制尚不完全清楚。研究发现，EMs在患者一级亲属和单卵双胞胎中发病率较高，EMs的发病风险中高达51%是遗传导致的，提示遗传因素在EMs的发生中发挥重要作用。近年来通过全基因组关联分析（GWAS）和其他技术的应用，发现炎症相关基因、细胞色素家族相关基因和癌前病变相关基因等与EMs的发生、发展有着密切关系。为进一步了解EMs的遗传学发病机制，现就近年来该领域研究进展进行综述。

Advances in Genetic Pathogenesis of Endometriosis

Endometriosis(EMs) seriously affects the health and life quality of women of reproductive age. EMs has a variety of clinical manifestations, such as chronic aperiodic pelvic pain, dysmenorrhea and infertility. However, the pathologic mechanism of EMs is not completely clear. Evidence shows that the incidence of EMs is relatively high in those first-degree relatives and monozygotic twins of EMs patients, and up to 51% of the risk of EMs is related to heredity, suggesting that genetic factors play an important role in the pathologic mechanism of EMs. With the development of genome-wide association study(GWAS) and the clinical translation of many other research methods in recent years, the inflammation-related genes, cytochrome family-related genes and precancerous lesion-related genes were found to be related with the pathogenesis of EMs. In this paper, the research progress of genetic pathogenesis of EMs was reviewed.