- Endometriosis is a disease that can cause pain and infertility, and currently, there is no cure for it.
- Researchers at the University of Oxford in the United Kingdom studied DNA samples from thousands of female participants to see if there is a genetic component underlying endometriosis.
- The researchers collaborated with 25 teams internationally to obtain and analyze a large set of data from female participants both with and without endometriosis.
- Their findings showed that not only is there a genetic component to this condition, but there is also a correlation between endometriosis and other inflammatory conditions.
Endometriosis can be a debilitating condition for those who develop it, and diagnosing it can be costly and difficult.
In order to learn more about the genetic factors surrounding the condition, University of Oxford scientists worked with other researchers across the globe to analyze DNA from hundreds of thousands of female participants.
Their research revealed that endometriosis may be linked to other inflammatory conditions.
The study authors published the results in Nature Genetics.
Endometriosis overview
During the menstrual cycle, part of the process is for the endometrium lining, the tissue that lines the uterus on the inside, to thicken. If a person does not become pregnant, this lining is typically shed during menstruation.
Sometimes, a tissue similar to this lining can grow in areas it should not — and this is what occurs in endometriosis.
This lining can grow around the fallopian tubes, the ovaries, or in the pelvic area. Sometimes it can even grow around other organs, such as the intestines or bladder.
Some signs and symptoms of endometriosis include:
- pain in the lower back and pelvis
- painful sex
- infertility
- painful periods
- digestive issues.
According to the World Health Organization, (WHO), endometriosis affects approximately 10% of menstruating individuals who are in their reproductive stage worldwide.
The study methods
The University of Oxford research team wanted to conduct a genome-wide association study (GWAS) and do a meta-analysis of data obtained to determine whether there is likely a genetic component to endometriosis.
The researchers worked with 25 other teams to obtain data from more than 60,000 individuals diagnosed with endometriosis, which they compared to the DNA samples of slightly more than 700,000 people without this condition, who acted as the control group.
The samples came from participants who had either European or East Asian ancestry.
While analyzing the data, the scientists paid attention to genetic variants present in people with endometriosis versus those without. They also took the effects of these variants on the “endometrium, blood, and other relevant tissues” into consideration.
The researchers also studied nine other immune or inflammatory diseases to see whether there was any correlation between these conditions and endometriosis.
A genetic map of endometriosis
Upon analyzing the data available, the scientists identified 42 genetic loci — locations of genes or genetic sequences in the genome — that they considered significant for developing endometriosis.
This finding gives credence to the idea that endometriosis may have a genetic component, which could be significant in terms of developing an improved diagnostic process and treatments.
After studying these loci further, the researchers were able to identify a number of genes and hormone regulators that were connected both to endometriosis and other pain conditions.
Some health issues the authors found a correlation with include migraine and chronic back pain, as well inflammatory conditions, such as osteoarthritis and asthma.
The first author of the study, Dr. Nilufer Rahmioglu, senior research scientist at the Wellcome Centre for Human Genetics at the University of Oxford, discussed the study in an interview with Medical News Today.
“Using different datasets of women with and without endometriosis, some of which had unprecedented detailed data on surgical findings and pain experience collected using standardized criteria, allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience,” said Dr. Rahmioglu.
“Our results stimulate new avenues for designing new medical treatments targeting subtypes of endometriosis, or repurposing existing pain treatments for endometriosis.”
— Dr. Nilufer Rahmioglu
Links to IBS, migraine, asthma
Dr. G. Thomas Ruiz, the OB/GYN lead at MemorialCare Orange Coast Medical Center in Fountain Valley, CA, who was not involved in this study, discussed the research with MNT.
“This study reinforces that a family history of endometriosis is important. This is something that gynecologists have understood and this study codifies this belief,” said Dr. Ruiz.
Dr. Ruiz noted that a strength of the study lies in its large sample size and says a lot of good information can be derived from the study. He suggests focusing on the big picture of there being a “genetic basis for endometriosis and for advanced stage endometriosis.”
“There appears to be a link between the body’s response to endometriosis and other inflammatory disorders like asthma and osteoarthritis,” Dr. Ruiz added.
Dr. Steve Vasilev, a board-certified integrative gynecologic oncologist and medical director of integrative gynecologic oncology at Providence Saint John’s Health Center and professor at Saint John’s Cancer Institute in Santa Monica, CA, not involved in the study, also commented on the study findings.
“The study found significant genetic overlap between endometriosis and multiple other pain or inflammatory conditions, such as irritable bowel syndrome, migraine, and fibromyalgia. This finding highlights the importance of shared genetic factors in the development of comorbid conditions and provides insights for potential therapeutic targets.”
— Dr. Steve Vasilev
Dr. Vasilev noted that the study findings do not immediately have a clinical use, but “they lay the groundwork for future clinical applications. The results provide a deeper understanding of the genetic basis of endometriosis and its comorbidities.”
Additionally, Dr. Vasilev said the findings can assist with risk prediction, personalized medication, targeted therapies, early diagnosis, and prevention.
“Better diagnostics and therapeutics are badly needed and data from studies such as this will contribute to achieving this goal,” said Dr. Vasilev.
New guidelines: Diagnosis, management
Those who have concerns about ongoing pelvic pain, heavy and painful periods, and other symptoms surrounding menstruation should consult with their gynecologists to discuss the possible reasons for these issues, which could be endometriosis.
According to guidelines published in the Canadian Medical Association Journal earlier this month, there is currently no blood test that can confirm a doctor’s suspicion of endometriosis.
Laparoscopic surgery is traditionally used to definitively diagnose endometriosis. This surgery, however, is somewhat invasive and carries some risks, as all surgeries do.
As a result, these new guidelines for diagnosis recommend that providers use a combination of patient history and imaging to diagnose endometriosis. Transvaginal ultrasonography and magnetic resonance imaging (MRI) are diagnostic methods included in the guidelines.
People with endometriosis can manage their symptoms through hormone therapy, such as birth control pills, which can have efficacy rates of 60–80%. However, those who are trying to conceive may need to have surgery to have lesions removed.
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