Endometriosis Linked to Autoimmune Diseases Through Shared Genetic Pathways, New Study Finds

This large-scale study connects endometriosis with autoimmune diseases like RA, MS, and coeliac—paving the way for faster diagnoses and shared treatment options.

Endometriosis Linked to Autoimmune Diseases Through Shared Genetic Pathways, New Study Finds

For years, women with endometriosis have reported symptoms that extend far beyond the pelvic region—chronic fatigue, joint pain, food sensitivities, inflammation. Now, new research offers the biological proof behind what many have long suspected: endometriosis and immune conditions are deeply connected, and it’s not just coincidence—it’s genetic.

A landmark study published in Human Reproduction has revealed a shared genetic basis between endometriosis and several autoimmune, autoinflammatory, and mixed-pattern diseases—including rheumatoid arthritis, multiple sclerosis, coeliac disease, osteoarthritis, and psoriasis. The findings could reshape how we screen, treat, and understand endometriosis—not just as a reproductive condition, but as a whole-body disease.

What the Study Found

Led by researchers at the University of Oxford, this large-scale analysis is one of the first to combine both clinical and genetic evidence to explore comorbidities with endometriosis.

Key Insights:

• Women with endometriosis have a 30–80% higher risk of developing autoimmune and immune-related diseases.

• Genome-wide association studies (GWAS) revealed genetic correlations between endometriosis and immune conditions, especially rheumatoid arthritis and osteoarthritis, and to a more limited extent multiple sclerosis.

• The study found evidence that endometriosis may causally contribute to rheumatoid arthritis and the presence of one condition may contribute to the development of the other.

• Data was drawn from the UK Biobank, analyzing over 8,000 endometriosis cases and 64,000 immune disease cases.

“These conditions have been reported more frequently by women with endometriosis, but we didn’t know why,” said Dr. Nilufer Rahmioglu, senior author. “This study helps uncover the biology behind those patterns.”

Why This Matters for Women’s Health

This isn’t just about connecting dots—it’s about changing lives. By identifying the genetic overlap, researchers have opened the door to:

• Earlier screening for autoimmune diseases in women diagnosed with endometriosis

• Drug repurposing and shared treatment strategies for coexisting conditions

• More personalized care plans and preventive health approaches

• Recognition of endometriosis as a systemic disease, not just a gynecological issue

At The IVF Warrior, we know the toll endometriosis can take—from delayed diagnoses, to chronic symptoms, to complex fertility challenges. This study validates what many patients have experienced for years: endometriosis doesn’t happen in isolation. And understanding the bigger picture is the first step toward more compassionate, integrated care.

“This research is an important step toward faster diagnoses and more tailored treatment,” said Janet Lindsay, CEO of Wellbeing of Women, the study’s primary funder.

Have Endometriosis? Here’s What You Can Do:

If you live with endometriosis—or suspect you may—here’s what this research means for you:

1. Advocate for Your Care

Talk to your health provider about symptoms and concerns outside of reproductive health e.g., joint pain, fatigue, digestive issues, skin changes. And remember, you are always entitled to a second opinion if a provider dismisses your concerns.

2. Ask About Screening

If you have endometriosis, consider discussing screening for immune-related conditions like coeliac disease, thyroid disorders, RA, or autoimmune markers, especially if you’re experiencing overlapping symptoms. Specialists such as a rheumatologist are very knowledgeable about screening, diagnosing, and monitoring autoimmune conditions.

3. Support Research

This study was made possible by investing in women’s health research, something that continues to be grossly underfunded. Raising awareness and funding can fast-track answers and new treatments for the 1 in 10 women globally affected by endometriosis.

A Systemic Condition That Deserves Systemic Solutions

The narrative around endometriosis is evolving. It’s not just painful periods. It’s not just a fertility problem. And it’s not “all in your head.”

This new research adds weight to what many of us have felt for decades: endometriosis is a systemic inflammatory disease with complex, far-reaching effects on the body—and it must be treated as such.

“Very large studies like this help connect the dots between clinical experience and molecular biology,” said Professor Krina Zondervan, senior author and head of the Nuffield Department of Women’s & Reproductive Health. “This gives us a roadmap to develop treatments that can target multiple conditions at once.”

For those living with endometriosis, this study is more than a breakthrough—it’s validation. And for the next generation, it may pave the way to earlier detection, better care, and fewer years lost to misdiagnosis and misunderstanding. We're one step closer to a world where women's pain is taken seriously—and where science and advocacy walk hand in hand.

Source:

Rahmioglu N, Zondervan KT, et al. The phenotypic and genetic association between endometriosis and immunological diseases. Human Reproduction. April 2025. Read the full study on PubMed

Medical Disclaimer: The information provided in this blog is intended for general informational purposes only and should not be considered as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your healthcare provider or qualified medical professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in this blog.