Endometriosis patients are also genetically predisposed to depression, anxiety, and eating disorders

Study finds more of a relationship than previously acknowledged.


Endometriosis is a common chronic gynecologic condition that has a significant detrimental impact on the health of women. Endometriosis is associated with several psychological comorbidities, including depression, anxiety, and significant physical symptoms.

However, the biological mechanisms associated with endometriosis with mental health comorbidities remain elusive.

A new Yale study investigated whether pleiotropy contributes to the association of endometriosis with depression, anxiety, and eating disorders. This study is the largest epidemiological study to date on psychiatric factors.

The authors suggest that endometriosis has demonstrated that depression, anxiety, and eating disorders are not only a result of the chronic pain endometriosis generates but also have their underlying genetic mechanisms.

Unsurprisingly, a genetic predisposition to endometriosis may entail genetic changes that also impact other parts of the body. The link between endometriosis and mental health is more complex than we anticipated. The biological basis is more than just chronic pain; there is much more to learn.

Endometriosis is an extremely painful condition in which tissue similar to the lining of the uterus [endometrium] grows outside the uterus. Its symptoms are pelvic, abdominal, and low back pain, heavy bleeding, painful sexual intercourse, painful urination and bowel movements, constipation or diarrhea, bloating, nausea, fatigue, and infertility.

For a long, the condition has been thought of as just a gynecological disease—that it didn’t affect anything but female reproduction. Hence, women were often only treated when they presented with infertility. However, this new study acknowledges that the effects of endometriosis extend far beyond reproduction.

The study, which focused on the systemic manifestations of endometriosis in various organ systems, including the brain, shows that the disease causes changes in the brain that lead to anxiety and depression.

This genetic association study was performed on 202 276 unrelated female participants. Genotypic and phenotypic information from the UK Biobank was combined with genome-wide association statistics available from the Psychiatric Genomics Consortium (11 countries), the Million Veteran Program (US), the FinnGen study (Finland), and the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium (5 countries).

First, they looked to see if depression, anxiety, and eating disorders were more common in endometriosis patients, taking into account chronic pain, socioeconomic level, age, body mass index, various drugs, and co-morbid illnesses. They discovered that endometriosis substantially increases the likelihood of having these three psychological illnesses.

The researchers then decided to look into the genetics of this link. After conducting a genetic correlation analysis, they discovered a considerably high genetic association between endometriosis and each of the three illnesses. They then used pleiotropy analysis to find the shared genomic variations. This study discovered a genetic variant termed DGKB rs12666606 shared by endometriosis and depression.

Dora Koller, Ph.D., a postdoctoral researcher in computational genomics, said, “This is a gene that is highly expressed in many brain regions as well as female reproductive tissue, which is very interesting.”

According to scientists, the study will raise awareness about the lesser-known, far-reaching manifestations of endometriosis.

Hugh Taylor, MD, chair, and Anita O’Keeffe Young, Professor of Obstetrics, Gynecology & Reproductive Sciences at Yale School of Medicine, said, “It’s important for the public and health care providers to know there’s a common risk for endometriosis and mood disorders. Going back to the history of endometriosis, it has often been blamed on the patient—you’re too thin, you’re too anxious, you complain too much. It is not that. Based on your genetic makeup, you are at increased risk for all of these conditions simultaneously.”

Journal Reference:

  1. Dora Koller, Gita A. Pathak et al. Epidemiologic and Genetic Associations of Endometriosis With Depression, Anxiety, and Eating Disorders. JAMA Network Open. DOI: 10.1001/jamanetworkopen.2022.51214
Latest Updates