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These findings demonstrate an association that is independent of the disease’s genetic predisposition.
Researchers of a study published in JAMA Psychiatry assessed the impact of childhood and adulthood traumatic experiences as well as stressful events on endometriosis. They observed that traumatic experiences and genetic predisposition were independently associated with endometriosis, suggesting that their assessment may be useful when identifying those at risk of disease development.1
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The same research team published a prior study in JAMA Network Open had linked endometriosis to depression, anxiety, and eating disorders. This study, according to the authors, was the first large-scale study to provide both genetic and phenotypic evidence of the processes that underlie psychiatric comorbidities of endometriosis. Because these findings indicated a connection between endometriosis and mental health, the investigators hypothesized that psychologically traumatic experiences were also associated with endometriosis.1,2
For this case-control study, the analyses were performed between May 13, 2023, and September 30, 2024. Both genotypic and phenotypic information was combined from UK Biobank individual-level data (8276 patients with endometriosis and 240,117 female controls) with genome-wide information available from a large meta-analysis (a total of 23,942 patients and 450,668 female controls) and the FinnGen cohort (16,588 patients and 111,583 female controls).1
Main outcomes and measures were the following: the phenotypic associations via multiple regression; a latent-class analysis (LCA) to investigate the co-occurrence patterns of different traumatic experiences in endometriosis cases and controls; and genetic correlation and polygenic risk scoring analyses to assess pleiotropy linking traumatic events to endometriosis.1
The final analysis included up to 8276 women with endometriosis (mean age: 53.2 years), and 240,117 female controls (mean age: 56.5 years). The findings demonstrated that women with endometriosis were more likely to report childhood and adulthood traumatic experiences and stressful events (contact trauma OR, 1.28; 95% CI, 1.02-1.26). Additionally, the LCA highlighted the association of endometriosis with emotional and physical trauma (n = 225, 8% vs n = 3948, 5%; P < 2.2 × 10−16) and sexual trauma (n = 414, 5% vs n = 3158, 4%; P = 2.9 × 10−3). The controls were more likely assigned to the “no trauma” class (n = 563, 20% vs n = 18,949, 24%; P = 7.4 × 10−14).1
Further, the investigators observed through genetic correlation analyses that endometriosis is linked to multiple trauma-related outcomes, including post-traumatic stress disorder and childhood maltreatment. Endometriosis PRS was associated with an increased odds of the disease (β = 0.31, P < 2.2 × 10−16); however, no interaction was observed with different types of trauma events.1
“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,” first author Dora Koller, researcher, department of genetics, microbiology and statistics, University of Barcelona, and researcher at the department of psychiatry of Yale School of Medicine, said in a news release. “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.”
Between these studies, the consistent association of both mental health disorders with an elevated risk of endometriosis, independent of genetic factors, highlights the significant impact of psychological well-being on this condition. Additionally, the observed genetic correlations linking endometriosis to trauma-related outcomes and mental health disorders pave the way for a deeper understanding of shared biological mechanisms. These findings advocate for another approach in the treatment of endometriosis management.
“Our findings highlight how childhood and adult trauma may contribute to the pathogenesis of endometriosis with mechanisms that appear independent of the genetic predisposition,” Marina Mitjans, researcher at the same UB department and at the UB Institute of Biomedicine, at the Sant Joan de Déu Research Institute, and at the Mental Health Networking Biomedical Research Centre, said in the news release.1