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Those of us living free from the chronic pain caused by endometriosis can only imagine what a life of constant discomfort is like. Depression can seem like an inevitable consequence, risking assumptions that distract us from looking for further causes.
Now, research conducted by geneticists at Queensland University of Technology in Australia has uncovered a number of risk factors that increase the chances of developing both endometriosis and depression, as well as a variety of gastrointestinal conditions.
While it doesn’t rule out an environmental influence, the finding makes it clear that gut health, endometriosis, and chronic mood disorders often overlap thanks to genes common to all three.
Endometriosis is the presence of endometrial tissue – the thick layers of cells that line the uterus – where it has no growing activity.
Just like the endometrium, this tissue is also affected by cyclical fluctuations in hormones, which result in internal bleeding, scar tissue, and inflammation. In its most aggressive form it pushes deeply into surrounding organs and tissues, such as the bladder, colon and ligaments that hold the muscles in place around those organs.
While endometriosis is thought to affect about one in ten women, adding up to about 200 million worldwide, the consequences of this rogue coating range from being completely asymptomatic to living with chronic and debilitating pelvic pain.
The condition most commonly manifests itself through a range of symptoms and conditions, including excessive bleeding, pain during intercourse and during menstruation, nausea, and indigestion.
Furthermore, it is not unusual for people diagnosed with endometriosis to also experience anxiety attacks and depression. Research confirms this, finding that they are the most common disorders found in association with endometriosis.
It is not a big leap to assume that this relationship is causal. Studies in mice also imply that the pain of endometriosis can directly affect the brain, promoting pain sensitization and mood disorders.
Also, having higher levels of pelvic pain makes depression even more likely, making it seem like pain is causing depression and not endometriosis itself.
Without necessarily contradicting the role of pain in influencing our moods, researchers are becoming increasingly aware of the sheer complexity of depression, discovering that it is more than a psychological state, but rather an entire physiological system influenced by a rich variety. of genes.
Twin studies have also strongly suggested a genetic basis for 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 International Endogene Consortium.
The sample of over 208,000 individuals included approximately 17,000 cases of endometriosis, including just under 192,000 as controls, all from a diversity of nations around the world.
This was compared to a similar GWAS database used previously to find genes linked to depression, with a couple of alternative databases used to see if their results could be reproduced.
After evaluating the 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 entirely new.
In all, 22 genes were implicated, many with roles in the pathways that govern cell adhesion, signaling that regulates cell movement and proliferation, and gastric health.
Indeed, further excavation has uncovered further 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 the pathways from genes to health and back is another story altogether.
We are still a long way from a cure and finding adequate treatments is also an ongoing challenge. Given that we’ve known about the condition for nearly a century, it’s shocking that endometriosis is still so regularly overlooked.
Knowing more about the underlying genetics and how they might play out in other health conditions is beyond worth it.
This research was published in Human genetics.
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