Largest-ever genetic study revealed genetic regions associated with endometriosis

The study found new data about the variants that increase the risk of the disease.


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.

A new study has now identified the variants that increase the risk of the disease. The study, to which scientists from the Institute for Molecular Bioscience- University of Queensland contributed, is the largest-ever genetic study of endometriosis.

Scientists found that the genetic risk factors for endometriosis are also associated with other chronic pain types such as migraine, back pain, and multisite pain.

The study compares the DNA code of 60,674 cases with endometriosis and 701,926 controls without the disease of European and East Asian descent.

Dr. Sally Mortlock from Institute for Molecular Bioscience said, “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. 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.”

Professor Grant Montgomery, also from Institute for Molecular Bioscience, said, “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.”

Dr. Mortlock said, “The shared genetic basis for endometriosis and other seemingly unrelated pain may indicate ‘sensitization’ of the central nervous system. This makes people suffering from chronic pain more prone to other types of pain.”

Scientists observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), and inflammatory diseases, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine.

Identified signals explained up to 5.01% of disease variance and regulated expression or methylation of genes in endometrium and blood, many of which were associated with pain perception/maintenance (SRP14/BMF, GDAP1, MLLT10, BSN, and NGF).

Dr. Mortlock said“The findings open up new avenues for treating endometriosis. Perhaps in some cases, we need to be designing pain treatments rather than hormonal treatments.”

Journal Reference:

  1. Rahmioglu, N., Mortlock, S., Ghiasi, M. et al. The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nat Genet 55, 423–436 (2023). DOI: 10.1038/s41588-023-01323-z
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