Largest-ever endometriosis genetic study reveals treatment clues

14 March 2023

IMB researchers have contributed to the largest ever genetic study of endometriosis, finding new data about the variants that increase risk of the disease.

The study found genetic risk factors for endometriosis are also associated with other chronic pain types such as migraine, back pain and multi-site pain.

Dr Sally Mortlock and Professor Grant Montgomery collaborated with University of Oxford researchers and 24 teams across the world to compare the DNA code of more than 60,000 women with endometriosis and 700,000 women without the disease.

Paving the way for treatments

“Very little is known about the causes of endometriosis, but studying genetics can give us clues to the biological processes that are the basis for onset and progression,” Dr Mortlock said.

“Before this study there were 17 genetic regions associated with endometriosis and now we have 42 regions with much richer data.”

“It means we can find out what genes in these regions do and find new drug targets, leading to new treatments.”

Endo affects 1 in 9 women

Woman bent over in pain
Endometriosis can cause constant and intense pelvic pain

Endometriosis is a severe inflammatory condition caused by tissue that resembles the uterus lining, the endometrium, growing outside the uterus.

It affects 1 in 9 women of reproductive age, or 190 million women globally, and can cause constant and intense pelvic pain, fatigue, depression, anxiety and infertility.

Professor Montgomery has been studying the genetics of endometriosis for more than 20 years and said the study was an important step towards improved treatment and diagnosis.

More data will speed up diagnosis

“Diagnosing endometriosis has traditionally taken 8-10 years, so having more detailed genetic data puts us in a much better position to be able to speed up that process,” Professor Montgomery said.

Dr Mortlock said the shared genetic basis for endometriosis and other types of seemingly unrelated pain may indicate ‘sensitisation’ of the central nervous system.

“This makes people suffering from chronic pain more prone to other types of pain,” Dr Mortlock said.

Risk for endo associated with chronic pain

The findings open up new avenues for treatment of endometriosis.  

“Perhaps in some cases, we need to be designing pain treatments rather than hormonal treatments.”

Sally Mortlock and Grant Montgomery
Dr Sally Mortlock and Professor Grant Montgomery

The study was led by Oxford University’s Professor Krina Zondervan and Dr Nilufer Rahmioglu and included data from the UK Biobank and 23andMe.

UK Biobank is a large-scale biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants. UK Biobank’s database, which includes blood samples, heart and brain scans and genetic data of the volunteer participants, is globally accessible to approved researchers who are undertaking health-related research that’s in the public interest.

The research was published in Nature Genetics.

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