An international study in which the Institute of Biomedicine of the University of Barcelona (IBUB), located in the vicinity of the Barcelona Science Park, has participated, has found new evidence that links the appearance of endometriosis with traumatic experiences and situations of stress and anxiety in women. The results, published in the journal JAMA Psychiatry, could serve to improve the early detection of this gynecological disease that affects 190 million women worldwide.

Endometriosis is a chronic inflammatory disease characterized by the presence of endometrial tissue outside the uterus. Its symptoms include intense pelvic pain, especially during menstruation, pain during sexual intercourse, chronic fatigue and digestive disorders, significantly impacting the quality of life of women who suffer from it, with emotional problems such as anxiety and depression.

Research shows that endometriosis seems to be closely related to those traumas in which there has been direct physical contact, such as in cases of physical abuse or sexual assault. Through genetic analysis, the study has discovered that this relationship seems to be independent of the genetic predisposition to endometriosis.

«These results challenge established paradigms by uncovering shared genetic mechanisms linking endometriosis with post-traumatic stress disorder and other types of trauma, while providing new insights into how different types of traumatic events are associated with the disease», explains Dora Koller, first author of the article and researcher at the Department of Genetics, Microbiology, and Statistics of the UB’s Faculty of Biology, and notes that «while psychological trauma has been associated with endometriosis, to date, there has been little information on the role of the type of trauma and genetic predisposition».

The study included the participation of Marina Mitjans, researcher at the same UB department and at the UB Institute of Biomedicine (IBUB), at Sant Joan de Déu Research Institute (IRSJD) and at the Mental Health Networking Biomedical Research Centre (CIBERSAM). Other authors from the University of Bergen (Norway), the Karolinska Institute (Sweden), the University of Oxford (United Kingdom), Harvard T. H Chan School of Public Health, and the Massachusetts General Hospital (United States) also participated in the study.

A study conducted on more than 240,000 women

The study was based on observational and genetic data analyses from 8,276 women with endometriosis and 240,117 controls in the UK Biobank, a biomedical database containing anonymized genetic, lifestyle and health information, as well as biological samples from people in the United Kingdom. «Our study shows that people with endometriosis were more likely to report having experienced certain traumatic events compared to healthy people», notes Dr. Keller. For example, people with endometriosis were 17% more likely to have witnessed a sudden death, 16% more likely to have experienced sexual assault in adulthood and 36% more likely to have received a life-threatening diagnosis.

Post-traumatic stress disorder and child abuse

The genetic analyses performed consisted mainly of a genome-wide association study (GWAS) of endometriosis, as well as an analysis of the interaction between traumatic events and polygenic risk of the disease. The results showed a genetic correlation with several situations associated with trauma, highlighting the relationship with posttraumatic stress disorder and child abuse.

Mechanisms which do not depend on the genetic predisposition

The results suggest that the relationship between genetic risk of endometriosis and trauma is not due to a direct interaction between genes and environment, but rather to correlations between the two. For example, people with a genetic predisposition may be more likely to experience or remember certain traumatic events, which could influence their risk of developing endometriosis.

An early diagnosis strategy

The associations identified between endometriosis and traumatic events are consistent with a previous study by the same research team that linked the disease to depression, anxiety and eating disorders. These combined findings highlight the importance of assessing the physical and mental health of patients with endometriosis. «Although the results need to be confirmed in other cohorts, they suggest that we may be able to design early endometriosis screening programmes that consider not only genetic factors, but also a history of physical trauma or other risk factors. This would help to identify and treat the disease more comprehensively and effectively», concludes the researcher.

» Reference article: Koller, Dora; Lokhammer, Solveig et al. «Linking childhood and adult trauma to endometriosis 1 through observational and 2 genetic analyses». JAMA Psychiatry, febrer de 2025. doi: 10.1001/jamapsychiatry.2024.4694

» Link to the news: IBUB website [+]