Recent Advances in Molecular Genetics of Endometriosis

Endometriosis (MIM 131200) is a prevalent and complex gynecological disease polygenically inherited with multifactorial pathogenesis. It is increasingly recognized as a major women's health issue. Endometriosis is characterized by the presence of endometrial-like tissue in sites outside the uterus, mainly the pelvic peritoneum, ovaries and rectovaginal septum causing severe dysmenorrhoea, dyspareunia, chronic pelvic pain and subfertility. Recent advances in molecular technologies have provided many evidences about the underlying biological events that are likely to be involved in the development of endometriosis. Different chromosomal regions, genes and other molecules, such as microRNAs, have been identified as potentially involved in endometriosis pathogenesis. Moreover, genome-wide analyses of endometriosis have showed novel molecular signatures or individual genes that had not been previously associated with the disease. The goal of these studies is to provide information that might, in turn, lead to new therapies. In this review, some previous studies were updated supporting the polygenic/multifactorial inheritance and the association with malignant neoplasias. We have also emphasized the importance of identifying the causative genes and determining novel diagnostic and predictive biomarkers.