Advances in genetic research of endometriosis

VernacularTitle:子宫内膜异位症的遗传学研究进展
Author: Yang ZHANG ¹ ; Shuo HAN ; Wenjia MENG ; Qun LU
Author Information

1. 首都医科大学附属北京朝阳医院生殖医学中心，北京　100020
Publication Type:Journal Article
Keywords: Endometriosis; Genetic predisposition to disease; Polymorphism, single nucleotide; Epigenetics
From: Chinese Journal of Reproduction and Contraception 2023;43(5):455-460
CountryChina
Language:Chinese
Abstract: 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.