Genetics

Genetic studies show endometriosis is a complex, polygenic condition—not caused by a single gene. Adenomyosis shares some of these and has unique variants as well. Family history raises risk, and heritability is estimated around half, but genes act by subtly shifting pathways rather than determining destiny. Large genome-wide association studies (GWAS) have mapped dozens of risk loci near genes involved in estrogen signaling and response (ESR1, FSHB, GREB1), uterine development and decidualization (WNT4), cell adhesion and extracellular matrix remodeling (VEZT, FN1), and immune/inflammatory signaling. These insights help explain symptom variability and highlight targets for future non‑hormonal therapies, while guiding biomarker discovery and risk stratification research.

Readers learn how to interpret “risk genes,” why no single genetic test can diagnose endometriosis, and what emerging polygenic risk scores might offer as evidence matures. The focus is on "germline" risk (inherited variation), distinct from "somatic" mutations sometimes found in lesions. The focus of this section is on genetics research and its clinical implications, while pointing to adjacent, practical topics such as Biomarkers for test development, New Treatments for therapeutic translation, Diagnostics & Imaging for current diagnostic pathways, and Epidemiology for population-level patterns. Limited data suggest partial overlap but important differences in adenomyosis genetics; for clinical management of uterine disease, see Adenomyosis.