A recent study has found that genetic variants inherited from ancient human ancestors, combined with exposure to common modern chemicals, may increase the risk of developing endometriosis in some women. The research was published in the European Journal of Human Genetics and was led by Amelia Warren as part of her Masters degree at Bournemouth University.
Endometriosis affects about one in ten women of reproductive age and is associated with severe pain, inflammation, and immune system problems. Despite increased awareness, the disease remains challenging to diagnose early because symptoms like pelvic pain are often dismissed as normal menstrual discomfort.
"Endometriosis has come to the forefront in recent years and a lot more people understand what it is, but it remains difficult to diagnose early and often goes untreated," said Warren. "Ultrasounds do not usually pick up the small signs and pelvic pain is often assumed to be normal for a woman during her period. As a result, it's typically the most severe cases that get diagnosed," she added.
The researchers reviewed previous studies and identified five genes likely linked to endometriosis. These genes are sensitive to chemicals commonly found today that can interfere with hormones and disrupt immune function. Using data from NHS's Genomics England database, they compared these genes in 19 women diagnosed with endometriosis against those without the condition.
Their analysis revealed six genetic variants more frequently seen in women with endometriosis. Some of these gene variations appear to have been inherited from Neanderthals or other ancient populations.
The study also highlighted that several of these genetic differences occur in genes known to respond to everyday chemicals now present in plastics, cosmetics, and household items—substances previously thought harmless. This suggests that both inherited genetics and chemical exposures could together affect immune function and contribute to inflammation seen in endometriosis.
Amelia Warren expressed hope that their findings will lead to new ways of identifying individuals at higher risk for endometriosis before symptoms become severe.
Dr. Anna Mantzouratou, Visiting Fellow at Bournemouth University who supervised the research, said: "The variants we saw have been part of the human genome for a very long time, but the modern chemical environment is new, and we're beginning to understand how these interactions might influence conditions like endometriosis.
"This is an initial pilot study, but it marks an important step toward connecting the dots between our genetic makeup and the world we live in. If we can better understand how environmental exposures 'activate' or influence these biological processes, we may be able to identify risk earlier and support women long before symptoms become severe."
