The largest genetic study ever conducted on endometriosis revealed significant overlap in genes associated with nearly a dozen other pain conditions, including migraines.
The results could open a new chapter for research into the underlying causes of the disease and potential new treatments.
Endometriosis, or endo for short, is a very common inflammatory condition in which tissue similar to the lining of the uterus grows outside the organ. It’s the leading cause of chronic pelvic painalthough symptoms can also include gastrointestinal problems, urinary problems and persistent fatigue.
The cause of the life-changing disease is more or less a mystery, although early research suggests there is a strong genetic component. Between 30 and 50% of cases of endo appear to be inherited, yet very few genetic risk factors have been identified to date.
Currently, there have been only 9 genome-wide association studies of endometriosis in populations of European and East Asian ancestry, and together these data identify approximately 19 genetic regions associated with the disease .
A meta-analysisled by the University of Queensland (UQ) in Australia and the University of Oxford, has now more than doubled that number, bringing the list of suspects to 42.
The study compared the genomes of 60,000 women with endometriosis and 700,000 women without the disease. The second largest study on the subject looked at just 17,000 cases of endo.
“Very little is known about the causes of endometriosis, but studying genetics can give us clues about the biological processes that underlie its onset and progression,” said molecular bioscientist Sally Mortlock of UQ.
In previous genetic studies, for example, scientists have related endo risk factors to other conditions with shared symptoms, such as depression and gastrointestinal disorders.
Current research is once again drawing parallels between specific genetic regions that are associated with endo and other conditions that involve pain and inflammation, such as migraine, chronic back pain, asthma and osteoarthritis.
According to Mortlock, these findings should allow future researchers to focus on what the genes in these specific regions actually do. This knowledge could then help experts develop drug targets for new endo treatments.
For example, the genetic overlap between endo and other painful conditions could imply that the nervous system, in some cases, has become too sensitive to pain.
“It makes people with chronic pain more prone to other types of pain,” explain Deathlock.
“Maybe in some cases we need to design pain treatments rather than hormone treatments.”
That said, many genes causally linked to endometriosis risk are already known to play a role in sex hormone-related signaling processes. Others are linked to the development of tumors.
In 2022, another study authored by Mortlock also found a genetic link between endometriosis and certain types of ovaries cancer.
The connection could help explain why people with endo are slightly more likely to develop ovarian cancers later in life, which could lead to better treatments for both conditions. The ovaries in particular seem to be linked to extensive endoscopic injuries and scarring.
The ovarian endometriosis in the current study tended to coincide with more extensive endo cases which, in turn, had a stronger genetic basis.
“These findings support the hypothesis that the presence of endometriosis may lead to pain through the interrelated activation of hormonal, immune, and neural pathways, as seen in other chronic pain conditions,” the authors said. of the study. to write.
Most previous research on endometriosis has considered only women of childbearing age, who are the cohort most commonly affected by the disease. Since the current research was a meta-analysis, its scope was reduced by previous assumptions.
In fact, endo may also impact women who no longer menstruateas well as people who do not identify as female and, on rare occasions, people designated male at birth.
Changing this outdated, gender-specific view can reveal even more about the disease, as well as improve diagnosis for everyone.
Currently, the average woman can easily wait up to seven years for endo diagnosis, and people who do not identify as female often report that their symptoms are overlooked or ignored as a result.
The truth is that many doctors today don’t feel like they have enough information to identify endo or treat it.
Symptoms of the disease are numerous, often measured subjectively and vary widely from person to person. The only way to know if someone has endo for sure is through surgery.
Even after this diagnosis has been made, find helpful treatments that alleviate symptoms without causing side effects or scar tissue is an ongoing challenge for many patients.
Surgery and hormone therapy are the most commonly offered treatments today, but they don’t work the same way for everyone. Some researchers suspicious this is because endo encompasses a whole variety of subtypes that may require different treatment approaches.
If true, future genetic research will be crucial in unraveling the different ways endometriosis can occur and what to do about it.
The study was published in Natural genetics.