Genetic factors associated with the co‑occurrence of endometriosis with antiphospholipid syndrome (Review)

Immune-related factors may serve an important role in the development of endometriosis, considering the occurrence of substantial abnormalities in the immune system of women with endometriosis, including reduced T-cell reactivity and natural killer cell cytotoxicity, as well as increased numbers and activation of peritoneal macrophages. Moreover, women suffering from endometriosis are at a higher risk for developing various autoimmune diseases as comorbidities of endometriosis. Recent epidemiological data demonstrate that patients with endometriosis have a significantly higher risk (2.84-fold) of developing subsequent antiphospholipid syndrome (APS) compared with women without endometriosis. These data pose a question about the putative role of a shared genetic background affecting the co-occurrence of these two disorders. Endometriosis is a chronic, complex, inflammatory, estrogen-dependent and progressive gynecological disorder, with an incidence of up to 10% in women of reproductive age, characterized by the growth of endometrial tissue outside the uterine cavity. APS is a systemic autoimmune disorder characterized by the development of thrombotic and/or obstetric complications in the presence of specific types of antibodies, including antiphospholipid antibodies. The present review aims to delineate the genetic basis of the co-occurrence of endometriosis with APS by systematically searching the literature for genes involved in the development of both conditions, with the goal to clarify the underlying shared molecular and pathogenetic mechanisms. This information may contribute to the identification of putative novel therapeutic targets for pharmaceutical intervention in both disorders and the classification of patients with endometriosis in a subgroup with a possibility of developing subsequent APS.