Bold claim: modern pollutants and ancient DNA may explain why some women develop endometriosis. A fresh study posits that certain genetic differences inherited from early human relatives, combined with exposure to common today’s chemicals, could account for why some individuals are more prone to the condition.
Published in the European Journal of Human Genetics, the research points toward a link between our DNA, the modern environment, and endometriosis. This could pave the way for deeper insights into how genetic makeup and everyday exposures interact to influence disease risk.
Endometriosis affects about one in ten women of reproductive age and can cause intense pelvic pain and inflammation, often tied to immune system function. Amelia Warren, who led the study as part of her master’s program at Bournemouth University, explains that while awareness has grown, early diagnosis remains challenging and many cases go untreated. Ultrasounds frequently miss the subtle early signs, and pelvic pain is sometimes dismissed as a normal part of menstruation, which means only the more severe cases are typically identified.
The Bournemouth team began by surveying prior research and pinpointed five genes that appear most strongly associated with endometriosis. These genes also show heightened sensitivity to common modern chemicals that can disrupt hormones and immune responses.
Using the NHS Genomics England database, the researchers compared the genetic profiles of 19 women diagnosed with endometriosis with those of women without the condition. They identified six variants that appeared more often in the affected group. Notably, some variants trace back to ancient populations, including Neanderthals.
A key finding is that several of these variants reside in genes known to react to substances once deemed harmless but now present in plastics, cosmetics, and various household products. This suggests a potential interaction: inherited genetic traits, when exposed to modern chemicals, may dysregulate immune processes and contribute to the inflammation characteristic of endometriosis.
Related coverage highlights other angles in this field, such as links between genetic variants and cardiovascular risk, potential dietary influences on endometriosis, and the impact of Mediterranean-style eating patterns on disease odds.
The researchers hope their work advances understanding of why some women develop endometriosis and could help flag individuals who are more vulnerable at an earlier stage. Bournemouth University supervisor Dr. Anna Mantzouratou notes that while these variants are longstanding in the genome, the contemporary chemical environment is new—and exploring how these interactions shape conditions like endometriosis is crucial.
This study is a preliminary pilot, but it represents a meaningful step toward connecting genetic factors with environmental exposures. A clearer grasp of how external chemicals might ‘activate’ these biological pathways could enable earlier risk identification and support for women before symptoms intensify.
Amelia Warren emphasizes the importance of listening to patients: many women with endometriosis feel unheard and see little progress. Demonstrating ongoing efforts to help can make a meaningful difference for them.
Source:
Warren, A., et al. (2025). Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants. European Journal of Human Genetics. doi: 10.1038/s41431-025-01977-9.
