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Researchers identify genetic cause of endometriosis

Woman with endometriosis


Researchers have identified the genetic cause of endometriosis through DNA sequencing, which highlights a potential new non-hormonal treatment.

Scientists at Oxford University, in collaboration with researchers at the University of Wisconsin-Madison and Baylor College of Medicine in Texas, performed genetic analysis on humans and rhesus macaques monkeys to identify the specific gene known as NPSR1, which increases the risk of suffering from endometriosis.

The results are published in Science Translational Medicine.

Endometriosis causes chronic pain as a result of uterine tissue growing outside the uterus. The tissue often develops around the ovaries or fallopian tubes, leading to inflammation, pain and reduced fertility. Current treatments, including surgery and hormone therapy, can ease symptoms but often involve unwanted side effects.

The Oxford team analysed DNA from families where at least three women suffered from endometriosis and discovered that most of the women carrying the rare variants of the gene had stage III/IV endometriosis.

The genetic linkage to the condition was verified by examining the DNA of rhesus monkeys. This validation led to further in-depth sequencing by the Oxford team of more than 11 000 women, including patients with endometriosis and healthy women. From this analysis, the team were able to identify a specific common variant in the NPSR1 gene also associated with stage III/IV endometriosis.

Jeffrey Rogers, associate professor at the Human Genome Sequencing Center at Baylor College of Medicine, said: ‘This is one of the first examples of DNA sequencing in nonhuman primates to validate results in human studies and the first to make a significant impact on understanding the genetics of common, complex metabolic diseases. The primate research really helped to provide confidence at each step of the genetic analysis in humans and gave us motivation to carry on chasing these particular genes.’

The genetic insights provide information for potential new drug targets, which could treat this debilitation disease and improve the therapy outcome. This includes using an NPSR1 inhibitor to block protein signalling. In experiments on mice, the researchers found this treatment reduced inflammation and abdominal pain.

Professor Krina Zondervan from the University of Oxford added: ‘This is an exciting new development in our quest for new treatments of endometriosis, we have a promising new nonhormonal target for further investigation and development that appears to address directly the inflammatory and pain components of the disease.’

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