The Epidemiology and Genetics of Uterine Leiomyoma

Uterine leiomyomas (fibroids) are the most common benign neoplasms in premenopausal women, which confer significant morbidity during the reproductive years and represent a significant public health issue. The incidence of fibroids has been associated with African-American race, early onset of menarche, early parity, and environmental/dietary exposures. These sex steroid-responsive uterine tumors are characterized by de novo transformation of the myometrium into fibroids via excessive formation of the extracellular matrix (ECM). Cytogenic anomalies, mutations in mediator complex subunit 12 (MED 12), and aberrant DNA methylation/demethylation have been observed, but have not been reported as direct mediators of fibroid development. Recent advances in epigenetics have implied a functional role of G protein-coupled receptor 10 (GPR10) overexpression and irregular microRNA expression in the pathobiology of fibroids that require future investigation. Herein, the impact of epidemiologic and genetic factors on the incidence and development of fibroids is reviewed.