Women with endometriosis genetically predisposed to depression, anxiety and eating disorders- study

Women suffering from endometriosis may be genetically predisposed to depression, anxiety and eating disorders, Yale researchers have found.

The largest epidemiological study to date on the psychiatric factors that can accompany endometriosis has demonstrated that depression, anxiety, and eating disorders are not only a result of the chronic pain endometriosis generates, but also have their own underlying genetic mechanisms.

One in ten women lives with endometriosis, a chronic condition where endometrial-like tissue grows outside the uterus. Some may experience flare ups while menstruating, while others live with daily symptoms.

The World Health Organization (WHO) estimates that “at least” six and a half million women in the US alone have the condition, a figure that rises to as high as 190 million globally.

The new study, published in JAMA Network Open, obtained data from the UK Biobank which included more than 8,200 patients with endometriosis and 194,000 healthy controls.

First, researchers investigated if depression, anxiety, and eating disorders were more prevalent in those with endometriosis, accounting for chronic pain, socioeconomic status, age, body mass index, various medications, and co-morbid conditions.

They found that having endometriosis significantly increases the odds of having these three psychiatric conditions.

Next, the team explored the underlying genetics of this association. Through running a genetic correlation analysis, they found a significantly high genetic correlation between endometriosis and each of the three disorders.

They further conducted an analysis to identify the shared genetic variants, uncovering a variant shared between endometriosis and depression. The gene is one highly expressed in many brain regions as well as female reproductive tissue.

‘Far beyond reproduction’

Renato Polimanti, associate professor of psychiatry and the study’s principal investigator, said: “The relationship between endometriosis and mental health is more complicated than we expected.

“The biological basis is not just chronic pain, and there is much more that we need to understand.”

Dora Koller, a postdoctoral researcher in computational genomics and first author whose inspiration for the study stems in part from her own journey with the condition, said: “For a long time, researchers thought it was just a gynaecological disease—that it didn’t affect anything but female reproduction, and so women were often only treated when they presented with infertility.

“But we have to acknowledge that the effects of endometriosis extend far beyond reproduction.”

Dr Hugh Taylor, chair and Anita O’Keeffe Young Professor of Obstetrics, Gynecology & Reproductive Sciences at Yale School of Medicine and a co-author on the study, added: “It’s not surprising that having a genetic predisposition to endometriosis might include genetic alterations that affect other areas of the body as well.”

Epidemiological studies have long revealed a correlation between endometriosis and mental health disorders, Taylor explained, but researchers’ past explanation of this relationship was “often irresponsible” and shifted the blame onto the patients.

“Correlation does not prove cause and effect. The inappropriate, wrong, and hurtful interpretation was often, ‘these are anxious people complaining about pain that all women have.’ They were wrong.”

The team hopes its current study will help raise awareness about the lesser known, far-reaching manifestations of endometriosis.

“It’s important for the public and healthcare providers to know there’s a common risk for endometriosis and mood disorders,” Taylor said.

“Going back to the history of endometriosis, it has far too often been blamed on the patient—you’re too thin, you’re too anxious, you complain too much. It is not that. You are at increased risk for all of these conditions simultaneously based on your genetic makeup.”