The Role of Genetics in Endometriosis: Insights into Pathogenesis and Treatment

Endometriosis is a disease caused by the outgrowth of uterine endometrium-like tissues and it manifests in different patterns under a microscope.The genetic causes of endometriosis are poorly known.This condition shows genetic diversity by causing multiple lesions that change their biochemical activity.This disease is associated with discomfort, adenomyosis, infertility, placentation, and peritoneum inflammation which impact immune and reproductive systems.The inherited genetic and epigenetic variants may demonstrate the alterations in genetics, endometrium, placenta, and immunology that lead to endometriosis development.This book chapter explores the genetic variants that contribute to endometriosis development and their implications for improving diagnostic approaches.Additionally, it focuses on current genome-wide association study findings that have revealed genetic alterations associated with endometriosis along with their underlying biochemical processes and molecular mechanisms.Moreover, this chapter highlights that the diagnostic methods need to incorporate population-specific biomarkers based on the genetic variations found among different ethnic groups.The chapter outlines the future research directions as well as highlights the role of genetics in the improvement of accurate diagnosis and individualized treatments for endometriosis patients.