Researchers at the University of Oxford completed the largest study to date looking at the genetic basis for endometriosis.
The study, published in the journal Nature Genetics, found 42 genomic regions associated with endometriosis and revealed a shared genetic basis between endometriosis and pain traits, such as migraine, chronic and back pains.
This could contribute to a heightened sensitivity of the nervous system making endometriosis patients more prone to pain. Women suffering from endometriosis are traditionally given hormone treatments, but these insights might draw attention to treating pain.
It’s estimated that one in ten women suffer from endometriosis, which is characterized by uterine tissue, called endometrium, developing outside of the uterus. This tissue often accumulates in the stomach, ovaries, fallopian tubes and ligaments around the reproductive organs. Along with the excruciating pain, this can result in scarring and infertility in up to half of the women who have the condition.
a Need for Better Diagnosis
For many women even getting a diagnosis of endometriosis can be a long and grueling process.
A survey of women with the condition published in the journal Lancet found that their top priority is finding a better way to diagnose the condition. Also on the list were better treatments for managing the symptoms of the disease, particularly the pain.
This new study by researchers from Oxford included data from more than two dozen academic and industry research teams across the world, including 23andMe.
In all, the study included data from about 760,000 women, about 60,000 of whom were diagnosed with endometriosis. Using data from both women with endometriosis and those without it helps researchers discern the biological basis for the condition. It also helps in the study of the onset and progression of the condition. About half of the data used in this study came from 23andMe customers who consented to participate in research.
Using different datasets along with the details on surgical findings and pain experiences, improve what researchers could do.
“(It) allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience,” said Dr. Nilufer Rahmioglu, Senior Research Scientist at the Wellcome Centre for Human Genetics, University of Oxford, and first author of the study.
Find out More
You can read the full study here.
Or read more coverage on the blog about endometriosis here.