Endometriosis study paves way for new diagnostics and treatments

A major genetics study has found dozens of new signals linked to endometriosis, offering fresh insight into the biology driving the condition.

Endometriosis is a systemic disease affecting around 10 per cent of females worldwide.

It happens when tissue similar to the lining of the uterus grows outside it, causing pain, inflammation and fertility problems.

Despite how common it is, the underlying causes have remained poorly understood, slowing progress in diagnosis and treatment.

In one of the largest investigations to date, researchers analysed genetic data from approximately 1.4 million females, including more than 105,000 with endometriosis.

The study identified 80 genomic regions linked to disease risk, including 37 previously unreported loci, or specific positions on chromosomes, significantly advancing understanding of endometriosis genetics.

Notably, five of these regions were also linked to adenomyosis, a related condition in which endometrial-like tissue grows within the wall of the uterus.

Beyond identifying genetic variants, the researchers integrated transcriptomic, epigenetic and proteomic data, which examine gene activity, chemical changes regulating genes and proteins, to better understand how these variants influence disease development.

This multi-omics approach linked endometriosis genetics to key biological processes, including cell differentiation, immune response, hormonal regulation, tissue remodelling and inflammation.

These findings support long-standing hypotheses that endometriosis is not solely a localised gynaecological condition but a complex, systemic disorder involving immune and hormonal dysregulation.

The study also found that genetic risk for endometriosis interacted with a range of clinical symptoms, including abdominal pain, anxiety, migraine and nausea.

This reinforces the multifaceted nature of the disease and may help explain why patients often experience a broad spectrum of symptoms beyond pelvic pain.

Such insights could improve patient stratification in the future, enabling more personalised approaches to management based on genetic risk profiles.

The analysis also identified potential therapeutic targets through drug-repurposing approaches.

Some of the implicated pathways overlap with those targeted by existing treatments for breast cancer, contraception and preterm birth prevention, raising the possibility of accelerating new treatment strategies for endometriosis.