An estimated 190 million women worldwide suffer from endometriosis, a debilitating condition with no cure and a wide range of symptoms that, let alone treatment, lead to an average delay in diagnosis. It will take about 8 years.
Currently, the largest study of its kind analyzed the genomes of 60,674 people suffering from endometriosis across 25 datasets, along with genetic maps of 701,926 women and girls of reproductive age without endometriosis. It has been. The study was able to identify 42 common areas associated with this condition. That’s more than double her for what was previously known.
“By using a different data set of women with and without endometriosis, we had unprecedentedly detailed data on surgical findings and pain experience collected using standardized criteria. In part, we were able to generate a wealth of new information about the genetically driven subtypes of endometriosis and the experience of pain.” Senior Fellow at Oxford University and lead author of the study Nilufer Rahmioglu says:
Additionally, the study reveals a common genetic basis that patients are susceptible to other types of chronic pain unrelated to endometriosis, such as migraines, back pain, and multisite conditions. became.
“Little is known about the causes of endometriosis, but studying its genetics can provide clues to the biological processes underlying its onset and progression,” said the study. “Before this study, there were 17 gene regions associated with endometriosis, but now there are 42 regions with richer data.
“This means we can look at what the genes in these regions are doing and find new drug targets that could lead to new treatments,” she added.
42 regions showed genetic variants that increase the risk of endometriosis, thus opening the door to better targeted therapies to address different subtypes of the disease. The condition is characterized by the presence of endometrial-like tissue on the outside of the uterus, but the location of these deposits, as well as the symptoms associated with them, vary widely. Persistent pelvic pain, fatigue, depression, anxiety, nausea, and infertility are just a few of the vast range of symptoms patients experience.
Endometriosis is notoriously slow to diagnose, not only because of the systemic problems surrounding its severity, but also because of the sheer number of ways it manifests itself in symptoms. It not only speeds up the process, but also opens the door to less invasive procedures and the development of non-hormonal and analgesic therapies.
“Endometriosis is now recognized as a major health problem affecting women’s lives,” said Krina Zonderban, a professor at the University of Oxford and senior author of the study. “It provides a wealth of new knowledge about the underlying genetics of endometriosis and will help the research community come up with new treatments and possibly new diagnostics that will benefit millions of women around the world. I guess.”
A study was published in a journal natural genetics.
Source: University of Oxford
