Research published in the European Journal of Human Genetics explores the relationship between inherited genetic variants and exposure to modern pollutants as risk factors in the development of endometriosis.

Approximately 10% of women of reproductive age suffer from endometriosis, a Endometriosis is a disease that causes pain and inflammation. Early diagnosis is complicated, leading to inadequate treatment in many cases.

Ultrasound scans often fail to detect subtle signs of the disease. The common perception of pelvic pain during menstruation contributes to late diagnoses.

Genetic Variants and Chemical Exposure

Researchers identified six genetic variants in women diagnosed with endometriosis. Many of these variations are associated with genes that react negatively to common chemicals in the environment.

Studies suggest that the combination of genetic factors and environmental exposures can affect the immune system, promoting inflammation that complicates the condition.

Toward Early Diagnosis

This study represents an important step in understanding the connection between genetics and environment. Researchers hope to identify vulnerable groups earlier and improve patient care.

Dr. Amelia Warren, who led the study as part of her master's degree at Bournemouth University, and her colleague Anna Mantzouratou, a visiting researcher at the same institution, emphasize the importance of raising awareness about women with endometriosis, stressing that the understanding of the disease is evolving, and efforts are being made to mitigate its impact.

Symptoms of Endometriosis

The most common symptoms of endometriosis, aside from pelvic pain, include infertility, heavy menstrual periods, and pain during sexual intercourse.

Severe menstrual pain.

Dysmenorrhea, or severe menstrual cramps that worsen over time, affects many women with this condition. This pain can extend to the lower back or abdomen. Abnormal bleeding. This presents as spotting between periods or very heavy menstrual flow, impacting daily quality of life. Pain associated with bodily functions. This includes pain during bowel movements, urination during menstruation, or digestive symptoms such as bloating and fatigue. Other common symptoms. Infertility is a major symptom, along with chronic fatigue and leg pain or lower back pain. Role of pollutants. Specific environmental pollutants, such as endocrine disruptors, may contribute to the development of endometriosis by disrupting hormonal balance and promoting chronic inflammation. These compounds mimic or interfere with hormones such as estrogen, promoting the abnormal growth of endometrial tissue outside the uterus.

Below are details of key mechanisms and examples.

Endocrine disruptors. Chemicals such as phthalates, bisphenol A (BPA), PCBs (polychlorinated biphenyls), PBDEs (polybrominated diphenyl ethers), and PFAS act on estrogen receptors, generating oxidative stress and hormonal disorders that facilitate endometriosis. Studies show that exposure to these substances increases the risk by promoting cell adhesion and invasion of the endometrium.

Heavy metals. Cadmium, lead, arsenic, and mercury, present in contaminated water, air, and food, accumulate in the body and increase the risk up to three times in women with high blood levels. They induce oxidative stress and follicular damage, exacerbating the disease.

Air pollutants.

PM2.5 particles and PAHs (polycyclic aromatic hydrocarbons) in the air cause chronic inflammation and hormonal imbalance, associated with increased progression of endometriosis. Occupational exposures to these also contribute.

Other factors. Dioxins, pesticides (OCPs), and UV filters such as benzophenone produce similar effects through endocrine disruption, with evidence from epidemiological studies linking up to 40 environmental factors. Reducing exposure through environmental policies is key to mitigating risks.

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