子宫内膜异位症的遗传学研究进展  

Advances in genetic research of endometriosis

作　　者：张旸 韩烁 孟文佳 鹿群 Zhang Yang;Han Shuo;Meng Wenjia;Lu Qun(Medical Center for Human Reproduction,Beijing Chao-Yang Hospital,Capital Medical University,Beijing 100020,China)

机构地区：[1]首都医科大学附属北京朝阳医院生殖医学中心,北京100020 [2]天津医科大学中心妇产科临床学院,天津300070

出　　处：《中华生殖与避孕杂志》2023年第5期455-460,共6页Chinese Journal of Reproduction and Contraception

摘　　要：子宫内膜异位症是育龄期常见的妇科疾病,表现为痛经、不孕,严重影响女性的身心健康,其发病机制尚未明确。研究表明子宫内膜异位症是多因素病因所致,其中遗传在子宫内膜异位症发病机制中起重要作用。遗传关联研究从功能候选基因到全基因组水平发现了多个与该疾病发生、发展相关的遗传易感性位点。此外,表观遗传学也可能参与了子宫内膜异位症的发生和发展。本文从激素调节、免疫炎症、黏附、侵袭和血管生成等相关的基因入手,总结了与子宫内膜异位症相关的遗传学研究进展。子宫内膜异位症遗传学的研究将有助于理解其发生、发展机制,发现新的治疗靶点,为子宫内膜异位症的诊断、治疗提供理论基础。Endometriosis is a common gynecological disease in childbearing age,manifested as dysmenorrhea and infertility,which seriously affects women's physical and mental health.The pathogenesis of endometriosis is not yet clear.Researches show that endometriosis is caused by multiple factors,among which heredity plays an important role in the pathogenesis of endometriosis.Genetic association research has found many genetic susceptibility sites related to the occurrence and development of the disease from functional candidate genes to the whole genome level.In addition,epigenetics may also be involved in the occurrence and development of endometriosis.This paper summarized the genes related to hormone regulation,immune inflammation,adhesion,invasion and angiogenesis.The research on genetics of endometriosis will help to understand the occurrence and development mechanism of endometriosis,find new therapeutic targets,and provide theoretical basis for the diagnosis and treatment of endometriosis.

关 键 词：子宫内膜异位症 疾病遗传易感性 多态性 单核苷酸 表观遗传学 

分 类 号：R711.71[医药卫生—妇产科学]