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Researchers identify a genetic cause of endometriosis

Endometriosis affects 1 in 10 women worldwide. The current therapies for this condition are limited and tend to focus on intensive hormonal treatments or invasive surgeries. As a result, there is an apparent clinical need for novel non-hormonal and non-invasive therapies. Now, in a recent paper, a team of researchers have identified a genetic variant in the NPSR1 gene, which increases an individual’s risk of suffering from endometriosis. This target could provide hope for a new non-hormonal based treatment.

What is Endometriosis?

Endometriosis is a common chronic inflammatory disease affecting 190 million women worldwide. In women with endometriosis, the endometrial tissue grows outside the uterus. This causes a wide range of symptoms, including stomach pain and reduced fertility. It has been recognised since the 1980s that endometriosis typically runs in families, which suggests that there are underlying genetic risk factors involved.

Genetic Causes of Endometriosis

In a study, recently published in Science, a team of researchers sequenced 32 human families where 3 or more women were affected by endometriosis. From this study, the team uncovered a variant in the NPSR1 gene, which was significantly associated with the disease. The women in this study, who harboured variants in the NPSR1 gene, had stage III/IV endometriosis. The researchers then further validated their findings in rhesus macaque. Rhesus macaques are one of three primates reported to experience endometriosis.

In addition, the researchers also tested to see if the NPSR1 site could be used as a potential drug target. To do this, the team used an NPSR1 inhibitor to block protein signals from the NPSR1 gene in both cellular assays and in mouse models. The results showed a reduction in inflammation and abdominal pain. These findings show the potential of targeting NPSR1 in future drug development.


Endometriosis is a debilitating and often under-recognised disease. Although further research into the mechanisms and role of this genetic variant is still required, these findings bring us one step closer to developing a non-hormonal and non-invasive treatment for endometriosis, which will provide relief for so many women worldwide.

Image credit: iStock

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endometriosis / Genetic Variants / Sequencing