The largest ever genetic study of endometriosis has found that genetic risk factors are also associated with other chronic pain types such as migraine, back pain and multi-site pain.
Endometriosis is a severe inflammatory condition caused by tissues that resembles the uterus lining, the endometrium, growing outside the uterus.
With the ability to cause frequent, intense pelvic pain, fatigue, depression, anxiety and infertility, the disease affects 1 in 9 women of reproductive age, or 190 million women globally.
Now, researchers from the University of Queensland’s Institute for Molecular Bioscience, Dr. Sally Mortlock and Professor Grant Montgomery, have 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.
The shared genetic basis for endometriosis and other types of seemingly unrelated pain may be indicative of ‘sensitisation’ of the central nervous system, according to Dr. Morlock, who says “This makes people suffering from chronic pain more prone to other types of pain”.
She also says this could mean it’s sometimes necessary to “design pain treatments rather than hormonal 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,” said Dr. Morlock, adding that before the study, they knew of 17 genetic regions associated with endometriosis compared to the 42 regions now known.
Dr. Morlock points out that this means they can now work to better understand “what genes in these regions do and find new drug targets, leading to new treatments”.
The study was led by Oxford University’s Professor Krina Zondervan and Dr Nilufer Rahmioglu and included data from UK Biobank and the biotechnology company, 23andMe.
Accessible to approved researchers worldwide, UK Biobank is a large-scale biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants.
Having studied the genetics of endometriosis for more than 20 years, Professor Montgomery also said this study was an important step towards improved endometriosis treatment and 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.