Study reveals common genetic basis for endometriosis and other pain conditions


University of Queensland researchers have contributed to the largest-ever genetic study of endometriosis, finding new data on variants that increase the risk of developing the disease.

The study found that genetic risk factors for endometriosis are also associated with other types of chronic pain such as migraines, back pain, and pain of multiple locations.

Dr. Sally Mortlock W Professor Grant Montgomery of the University of Queensland The Institute of Molecular Biosciences collaborated with University of Oxford researchers and 24 teams worldwide to compare the DNA code of more than 60,000 women with endometriosis and 700,000 women without the disease.

Very little is known about the causes of endometriosis, but the study of genetics can give us clues to the biological processes that underlie the onset and progression.

Prior to this study, there were 17 genetic regions associated with endometriosis and now we have 42 regions with much richer data.

This means we can learn what the genes in these regions are doing and find new drug targets, leading to new therapies.”

Dr Sally Mortlock, University of Queensland’s Institute of Molecular Biosciences

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

It affects 1 in 9 women of childbearing age, or 190 million women globally, and can cause persistent and severe pelvic pain, fatigue, depression, anxiety, and infertility.

Professor Montgomery has been studying the genes of endometriosis for more than 20 years and said the study was an important step towards improving treatment and prognosis.

“It traditionally takes eight to 10 years to diagnose endometriosis, so having more detailed genetic data puts us in a much better position to be able to speed up this process,” said Professor Montgomery.

Mortlock said the common genetic basis for endometriosis and other types of seemingly unrelated pain may indicate a “sensitivity” of the central nervous system.

“This makes people with chronic pain more susceptible to other types of pain,” said Dr. Mortlock.

The findings open up new avenues for treating endometriosis.

“Maybe in some cases we need to design pain therapies in place of hormonal therapies,” Dr. Mortlock said.

The study was led by Oxford University professor Krina Zondervan and Dr Nilufer Rahmi Oglu and included data from the UK Biobank and 23andMe.

The UK Biobank is an extensive biomedical database and research resource containing anonymized genetic, lifestyle and health information from half a million UK participants. The UK Biobank database, which includes blood samples, heart and brain scans and genetic data of volunteer participants, is available globally to accredited researchers carrying out health-related research in the public interest.

Research published in normal genetics.


Journal reference:

Rahmi Oglu, N.; et al. (2023). The genetic basis of endometriosis and comorbidity with pain and other inflammatory conditions. normal genetics.


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