Genetic inheritance and exposure to modern chemicals may increase susceptibility to endometriosis in women.
- Genetic differences inherited from ancient humans may increase risk of endometriosis
- Common chemicals in plastics, cosmetics, and household products can interact with sensitive genes
- Early identification of at-risk women could improve treatment and outcomes
A combination of inherited genetic differences and exposure to everyday chemicals may explain why some women are more prone to developing endometriosis (1✔ ✔Trusted Source
Endometriosis – on the intersection of modern environmental pollutants and ancient genetic regulatory variants
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The findings, published in the European Journal of Human Genetics, highlight how interactions between human DNA and the modern environment could be linked to the condition.
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Some genes we inherit and the chemicals we’re exposed to every day can interact and increase the risk of #endometriosis. #womenshealth #genetics #medindia
Barriers to Identifying Endometriosis Early
Approximately one in ten women of reproductive age experience endometriosis, a condition that can cause intense pain and inflammation, often associated with immune system issues.
“Endometriosis has become more recognized in recent years, yet early diagnosis remains difficult and many cases go untreated,” said Amelia Warren, who led the study as part of her Masters degree at Bournemouth University.
“Small signs are usually not detected by ultrasounds, and pelvic pain is often dismissed as a normal part of menstruation. Consequently, it is mainly the most severe cases that receive a diagnosis,” she added.
Genes Linked to Endometriosis
Researchers at Bournemouth University reviewed prior studies and pinpointed five genes most likely connected to endometriosis. These five genes included IL-6, CNR1, IDO1, TACR3, and KISS1R. These genes are especially sensitive to everyday chemicals that can disrupt hormones and the immune system.
Utilizing the NHS Genomics England database, the team examined these genes in 19 women diagnosed with endometriosis and compared them with women without the condition.
Genes Reacting to Modern Chemical Exposure
The analysis revealed genetic variants that appeared more frequently in women with endometriosis. Some of these variants trace back to ancient human ancestors, including Neanderthals and other early populations.
Notably, the co-localized IL-6 variants rs2069840 and rs34880821, positioned within a Neandertal-derived methylation region exhibited strong linkage disequilibrium and suggested possible immune system dysregulation. In addition, variants in CNR1 and IDO1, including some with Denisovan ancestry, were also significantly associated.
The researchers emphasized that several of these variants are located in genes known to react to chemicals now present in plastics, cosmetics, and household products, previously considered harmless. This suggests that a combination of inherited genetic traits and chemical exposure could impair the immune system, potentially triggering the inflammation associated with endometriosis.
Toward Earlier Detection of Endometriosis Susceptibility
Amelia Warren and the team hope their findings will pave the way for a better understanding of why some women develop endometriosis and help identify those at risk early.
Dr. Anna Mantzouratou, a Visiting Fellow at Bournemouth University who supervised the study, said, “These variants have been part of the human genome for thousands of years, but the modern chemical environment is new. We are beginning to see how these interactions might influence conditions like endometriosis.”
Early Risk Awareness Through Genetic–Environment Links
“This pilot study represents an important step in linking our genetic makeup with environmental exposures. A clearer understanding of how these factors influence biological processes could allow for earlier identification of risk and proactive support for women before severe symptoms arise,” she added.
Warren also highlighted the importance of validation for women affected by the condition: “Many women with endometriosis feel unheard and neglected. Demonstrating that efforts are underway to make a difference is crucial.”
In conclusion, the interplay between inherited genetic variations and exposure to modern chemicals could explain why certain women develop endometriosis. Understanding these connections offers potential for early identification and better management of the condition, improving outcomes for affected women.
Reference:
- Endometriosis – on the intersection of modern environmental pollutants and ancient genetic regulatory variants – (https://www.nature.com/articles/s41431-025-01977-9)
Source-Medindia