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Genetic, Phenotypic Mechanisms Involved in Links Between Endometriosis, Mental Health

Jolynn Tumolo

Pleiotropy likely contributes to comorbid depression, anxiety, and eating disorders in women affected by endometriosis, suggests study findings published online in JAMA Network Open.

“Our findings support that endometriosis is a chronic systemic disease with complex links to women’s mental health rather than a classic gynecological disease,” said corresponding author Dora Koller, PhD, of the Yale School of Medicine Department of Psychiatry in West Haven, Connecticut.

Researchers at the Yale School of Medicine investigated shared genetic effects and possible causal relationships between endometriosis and psychiatric comorbidities. The genetic association study used data on 8276 women with endometriosis and 194,000 female controls from the UK Biobank combined with genome-wide information from the Million Veteran Program and the Psychiatric Genomics Consortium.

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Depression, anxiety, and eating disorders are strongly associated with endometriosis, the study found. Although chronic pain helps explain the associations, it is not the sole contributor, the researcher team explained. Even after analyses adjusted for chronic pain, associations between the psychiatric comorbidities and endometriosis remained strong.

The psychiatric comorbidities can partly be explained by genetic factors. Genetic liabilities for depression and anxiety were linked with increased odds of endometriosis, the study found.

“A genome-wide analysis of pleiotropic associations shared between endometriosis and psychiatric disorders identified 1 locus, DGKB rs12666606, with evidence of pleiotropy between endometriosis and depression after multiple testing correction,” researchers reported.

The variant is mapped to a gene with high expression in several brain regions and female reproductive tissues, the research team explained.

“These findings highlight that endometriosis is associated with women’s mental health through pleiotropic mechanisms,” researchers advised. “To our knowledge, this is the first large-scale study to provide genetic and phenotypic evidence of the processes underlying the psychiatric comorbidities of endometriosis.”

 

References

Koller D, Pathak GA, Wendt FR, et al. Epidemiologic and genetic associations of endometriosis with depression, anxiety, and eating disorders. JAMA Netw Open. Published online January 3, 2023. doi:10.1001/jamanetworkopen.2022.51214

Epidemiologic and genetic associations of endometriosis with depression, anxiety, and eating disorders. News release. Yale School of Medicine; January 18, 2023. Accessed January 27, 2023.

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