'Groundbreaking study finds endometriosis risk is rooted in genetics'

27 April 2023 , 17:56

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Study revealed shared genetic basis for endometriosis (Image: Getty Images)

Finally, some progress on a painful condition that’s so often ­overlooked in women. ­Researchers at the University of Oxford, in collaboration with 25 teams across the world, have published the largest ever study on the genetic cause of endometriosis.

Their study included DNA from 60,600 women with endometriosis and 701,900 without. It revealed a shared genetic basis for the condition and other types of pain such as migraine, back pain and multi-site pain.

The results open up new avenues for designing medical treatments targeting endometriosis, or repurposing existing pain treatments for it.

Endometriosis has enormous ­implications on quality of life, ­occurring in 5-10% of females of a reproductive age (190million globally), causing constant and intense pelvic pain, fatigue, depression, anxiety and even infertility.

Classically, tissue that resembles the uterus lining (endometrium) is found outside the uterus, primarily on the ovaries, bowel and bladder.

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Endometriosis can only be reliably diagnosed through surgery and this takes eight years on average from the first symptoms. Treatment is limited to repeated surgeries and hormonal treatments with many side-effects that stop women getting pregnant.

We know endometriosis can run in families, and therefore genetic factors play a role in why it develops in some women but not in others.

Very little is known about its causes, but by comparing DNA in women with and without the disease we get clues to the start and progression of the condition.

The researchers have found 42 areas across the genome that contain ­variants that increase the risk of ­endometriosis. They also discovered a shared genetic basis for endometriosis and a range of other chronic pain conditions. This could be related to so-called ­sensitisation of the central nervous system, which makes a person suffering from chronic pain more prone to other types of pain.

This points to new non-hormonal pain treatments, or using existing pain treatments for endometriosis.

Professor Krina Zondervan, of Oxford University, and senior author on the paper, said: “Endometriosis is now recognised as a major health issue affecting women’s lives.

“This study involved the analysis of DNA from more than 60,000 women with endometriosis worldwide, in an unprecedented collaboration of 25 academic and industry groups contributing their data and time.

“It has provided a wealth of new knowledge on the genetics underlying endometriosis, which will help the research community in their efforts to come up with new treatments and possibly new ways of diagnosing the disease thereby benefiting millions of women worldwide.”

Miriam Stoppard