Diagnosis
Which genes are linked to endometriosis so far?
The short answer
Genetic studies have found endometriosis risk signals near WNT4, GREB1, ESR1, FSHB, VEZT, FN1, SYNE1, and IL1A. They suggest risk is influenced by many common genetic variants, each with a small effect, rather than one single endometriosis gene.
Genome-wide association studies suggest endometriosis risk is influenced by many common genetic variants, each with a small effect, rather than a single endometriosis gene. Signals have been found near genes including WNT4, GREB1, ESR1, FSHB, VEZT, FN1, SYNE1, and IL1A.
Taken together, these findings point to biological processes involving hormone signaling and progesterone response, changes in the uterine lining (decidualization), inflammation and immune activity, and tissue remodeling outside the uterus. Genetics can help explain why endometriosis tends to run in families, but it doesn’t currently replace a clinical evaluation or guide treatment on its own. If you’re concerned about inherited risk or persistent symptoms, our team can help you sort through the best next steps.
Where to go from here
Understand it, compare it with what you're feeling, then talk it through with us.
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Worried About Genetic Risks?
Our specialists can help you understand the genetic factors linked to endometriosis and guide your next steps. Get personalized advice on diagnosis and care tailored to your family history and symptoms.
Questions people ask next
All diagnosis questionsIs endometriosis hereditary?
Yes, endometriosis can run in families, and having a parent or sibling with it raises your risk. But a family history does not guarantee you will develop endometriosis or reliably predict symptom severity, and many patients have no known family history.
Do genes interact with the environment or microbiome in endometriosis?
Yes, genes can influence susceptibility to endometriosis, while environmental and biological factors may affect whether and how symptoms appear. The microbiome can interact with inflammation, immune function and estrogen metabolism, which may affect how the disease behaves.
How could genetics influence endometriosis treatment?
Genetics may help guide endometriosis treatment by identifying pathways behind pain, inflammation, and lesion behavior. This could lead to more targeted, potentially non-hormonal medications, though most genetics-guided treatments are still in development.
Who is at higher risk for endometriosis?
Studies suggest endometriosis is more common in people whose periods started younger, who have shorter cycles, or who have heavy or prolonged bleeding. Family history can increase risk, and certain reproductive tract anomalies are linked to a higher likelihood.
Further reading
Genetic Insights Into Endometriosis
Learn how genetics shapes endometriosis (familial clustering, gene mapping, GWAS, and genomics) and what this means for diagnosis, treatment, and monitoring.
Will Genetic Testing Help Diagnose Your Endometriosis Soon?
Discover if genetic testing could soon help diagnose endometriosis. Learn about new research and what it means for patients seeking answers.
The Link Between Epigenetics, Diet, and Endometriosis
How epigenetic mechanisms and DNA methylation shape endometriosis, how your diet may modulate them, and the implications on your endometriosis care.
