New Genetic Insights Link Endometriosis with Immune-Related Conditions

Recent groundbreaking research from the University of Oxford has uncovered a significant genetic connection between endometriosis and various immune system disorders. Published in the journal Human Reproduction, the study analyzed data from over 8,000 women with endometriosis and 64,000 individuals with immunological diseases, revealing that women suffering from endometriosis face a 30-80% higher risk of developing autoimmune and autoinflammatory conditions such as rheumatoid arthritis, multiple sclerosis, celiac disease, osteoarthritis, and psoriasis.

The investigation employed genome-wide association studies (GWAS) and Mendelian randomization techniques to explore the shared genetic basis of these diseases. Results indicated notable genetic correlations, particularly between endometriosis, osteoarthritis, and rheumatoid arthritis, suggesting common biological pathways. The findings also hint at a potential causal relationship between endometriosis and rheumatoid arthritis, implying that one condition could influence the development of the other.

This comprehensive study utilized the UK Biobank's extensive data, categorizing immune conditions into autoimmune, autoinflammatory, and mixed-pattern diseases. By identifying specific genetic variants common across conditions, researchers are paving the way for innovative treatment strategies, including drug repurposing and personalized therapeutic approaches.

Experts emphasize that understanding this genetic link is vital for early diagnosis and better management of endometriosis and associated immune conditions. Dr. Nilufer Rahmioglu highlighted the importance of female-specific genetic research to unravel the underlying biological mechanisms, which could lead to targeted therapies. Professor Krina Zondervan added that integrating clinical and genetic insights helps uncover new avenues for treatment development.

This research underscores the importance of close monitoring of women with endometriosis for signs of immune-related diseases. The findings hold promise for advancing healthcare strategies and improving the quality of life for millions affected by these interconnected conditions. Further studies are needed to develop effective treatments that address both endometriosis and its associated immune disorders.

source: https://medicalxpress.com/news/2025-04-reveals-genetic-link-endometriosis-immune.html