Endometriosis may actually have a genetic link to 2 common health problems

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Those of us who live free from the chronic pain caused by endometriosis can only imagine what a life of constant discomfort looks like. Depression can look like inevitable consequence, risking hypotheses that distract us from the search for additional causes.

Today, research by geneticists at the Queensland University of Technology in Australia has discovered a number of risk factors that increase the chances of developing both endometriosis and depression, as well as a variety gastrointestinal disturbances.

While not ruling out an environmental influence, the finding clearly shows that gut health, endometriosis, and chronic mood disorders often coincide thanks to genes common to all three.

Endometriosis is the presence of endometrial tissue – the thick layers of cells lining the uterus – where it does not have to grow.

Just like the endometrium, this tissue is also affected by cyclical fluctuations in hormones, causing internal bleeding, scar tissue, and inflammation. In its most aggressive form it grows deep into surrounding organs and tissues, such as the bladder, colon, and ligaments that hold the muscles in place around these organs.

While it is believed that endometriosis affects approximately one in ten women, totaling around 200 million worldwide, the consequences of this rogue liner vary from being completely asymptomatic to living with chronic, crippling pelvic pain.

Most often, the disease manifests itself through a litany of symptoms and conditions, including excessive bleeding, pain during sex and during menstruation, nausea and indigestion.

In addition to all of this, it is not uncommon for people diagnosed with endometriosis to also experience episodes of anxiety and depression. Research confirms this, finding that they are the most common disorders found in association with endometriosis.

It’s not a big step to assume that the relationship is causal. Studies made on mice also imply that the pain of endometriosis could directly affect the brain, promoting pain awareness and mood disorders.

Additionally, having higher levels of pelvic pain makes depression even more likely, making it seem like it is the pain that causes depression, not the endometriosis itself.

Without necessarily contradicting the role of pain in our mood, researchers are increasingly becoming aware of the complexity of depression, finding that it is more than a psychological state, but rather an entire physiological system affected by a rich variety. of genes.

Studies of twins have also strongly hinted at a genetic basis of endometriosis. To see if any of the genes involved could also predispose individuals to depression, the researchers used data from a genome-wide association study (GWAS) conducted by the Endogenous International Consortium.

The sample of over 208,000 people included around 17,000 cases of endometriosis, with just under 192,000 serving as controls, all from a variety of countries around the world.

This was compared to a similar GWAS database previously used to find genes linked to depression, with a few alternative databases being used to see if their results could be replicated.

After performing an assessment for overlapping mutations common to both, the researchers identified 20 independent locations on the genome that could be considered significant for both conditions, eight of which are completely new.

A total of 22 genes were involved, many of which had roles in the pathways governing adhesion between cells, signaling that regulates cell movements and proliferation, and gastric health.

In fact, further excavation has revealed other causal links between endometriosis and depression and at least one abnormal bowel condition, such as peptic ulcers or gastroesophageal reflux disease.

Knowing that the links can be genetic is one thing. Mapping the complicated mess of pathways from genes to health and vice versa is a whole different story.

We are still a long way from a cure, and even finding suitable treatments is an ongoing challenge. Given that we’ve known about the disease for almost a century, it’s shocking that endometriosis is still so routinely overlooked.

Learning more about the underlying genetics and how it might play into other health issues isn’t worth it.

This research was published in Human genetics.


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