Endometriosis affects roughly 10% of women, yet the condition is often dismissed as “just a bad period” or misdiagnosed for years. The average delay in diagnosis is seven years from when symptoms start. Researchers have long struggled to explain why endometrium-like tissue grows outside the uterus, causing severe pelvic pain, heavy bleeding, and infertility. A large genetic study published earlier this year now points to a direct link between inflammation and endometriosis, offering a clearer path toward understanding the disease.
A large genetic study pinpoints key variants
The meta-analysis, published in Nature Genetics, included more than 60,000 women with endometriosis and over 700,000 controls. Scientists examined each participant’s genome and looked for correlations between genetic signals and the disease. They identified 42 regions of interest, housing 49 single-nucleotide polymorphisms — small errors in the genetic code that can trigger harmful effects.
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Among the most affected genes were SRP14, GDAP1, MLLT10, BSN, and NGF. The study proposed that the SRP14 variant may drive pain by activating nerve growth factor, which has been shown to increase nerve density around endometriosis lesions. Variants in GDAP1 have already been linked to painful menstruation and abdominal cramps. The analysis also found that MLLT10 and BSN variants are associated with multi-site chronic pain.
The inflammation connection
Because endometriosis is an inflammatory condition, researchers tested for genetic overlap with other inflammatory diseases. They found a positive genetic correlation with osteoarthritis and asthma. The likely explanation, the authors said, involves neuroimmune mechanisms that underlie many chronic pain conditions. Symptoms also appear to vary with hormonal state — osteoarthritis, for instance, is known to fluctuate with sex hormone levels.
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This isn’t the first time inflammation has been spotlighted in endometriosis research, but the genetic data strengthens the case that the immune system plays a central role, not just as a side effect of the disease but as part of its root cause. The study adds weight to the idea that treatments aimed at neuroimmune pathways could help both endometriosis and related pain conditions.
Period poverty is a term that has gained traction in recent years. Originally used to describe a lack of access to menstrual products, it has since expanded to cover the wider gap in education and research around women’s health. The field has come a long way from attributing pelvic pain to “hysteria,” but patients still call for more work to be done.
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What’s still missing from the research
The study has clear limits. It only included women of European and East Asian ancestry. The authors note that the impact of BMI, age at first period, and menstrual cycle length on endometriosis genetics still needs to be determined. Without data from other ancestral backgrounds, the picture remains incomplete. As the World Health Organization notes, endometriosis is a global problem — and research must reflect that.
The findings do not yet translate into new treatments. But they give researchers specific genetic targets to investigate. For now, the link between inflammation and endometriosis is clearer than ever, even if the full story — especially for women outside European and East Asian populations — remains to be written.
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