Abstract: 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.

Key words: Genome, Polymorphism, single nucleotide, Cytochrome P-450 enzyme system , DNA methylation, Interleukin-12