A recent study has discovered a genetic link between endometriosis and several immune conditions, identifying osteoarthritis, rheumatoid arthritis, multiple sclerosis, coeliac disease, and psoriasis as significantly associated with endometriosis. This research not only enhances the understanding of these connections but also presents possibilities for targeted treatments and early interventions.
The research revealed that women with endometriosis face an increased risk, ranging from 30-80%, of developing autoimmune diseases such as rheumatoid arthritis, multiple sclerosis, and coeliac disease, as well as autoinflammatory conditions like osteoarthritis and psoriasis. A genetic correlation between endometriosis and some of these diseases points to a shared genetic foundation underlying this increased risk. Evidence also indicates a potential causal relationship between endometriosis and rheumatoid arthritis, suggesting one condition may contribute to the other's development.
Data from the UK Biobank facilitated a comprehensive analysis of over 8,000 endometriosis cases and 64,000 immunological disease cases, examining associations with 31 different immune conditions. Researchers employed genome-wide association studies and meta-analyses to explore genetic correlations, and used Mendelian randomisation to investigate causal relationships. This identified specific genetic variants shared between endometriosis and autoimmune diseases. The study received major funding from Wellbeing of Women UK.
Dr. Nilufer Rahmioglu of the University of Oxford highlighted the significance of sex differences in these findings. "Sex differences are well documented across various immune conditions, many of which are more prevalent in females. This is also the case for many autoimmune and inflammatory diseases. These conditions have been reported more frequently by women with endometriosis, but we don’t know why. Female-specific genetic studies such as we conducted here can help to find out and uncover the biology behind these disease processes," she explained.
Professor Krina Zondervan, also from the University of Oxford, stated: "Very large studies integrating clinical and genetic information, such as conducted here, are able to provide valuable new insights into disease biology. In this case, we have provided solid evidence of a link between endometriosis and subsequent risk of diseases such as osteoarthritis and rheumatoid arthritis, and we have shown this has a biological basis. This new information can now be leveraged to look for new treatment avenues that may work across these conditions."
Janet Lindsay, CEO of Wellbeing of Women, emphasized the importance of this research. "This research is an important step towards building a more accurate understanding of endometriosis, a condition that affects 1/10 women globally. The findings show a link between endometriosis and autoimmune diseases that could pave the way towards faster diagnosis and more personalised treatments. For too long there has been too little investment in research into women’s health issues like endometriosis. It is crucial that we increase research investment in the next generation of women's health researchers to expand our knowledge and improve patient outcomes."
The research team aims to explore therapeutic strategies to address both endometriosis and its associated immune conditions. Future studies focusing on biomarkers, clinical trials, and targeted treatments will be vital in transitioning from understanding genetic and phenotypic associations to actionable healthcare solutions. Interested readers can access the full paper, titled 'The phenotypic and genetic association between endometriosis and immunological diseases,' in Human Reproduction.