Researchers from the University of Queensland have contributed to the largest genetic study of endometriosis ever conducted, uncovering new information regarding the polymorphisms that raise the risk of the condition.
According to the study, there is a connection between endometriosis genetic risk factors and other chronic pain conditions as migraine, back pain, and multi-site pain. The study was released in the journal Nature Genetics.
In order to compare the DNA codes of more than 60,000 women with endometriosis and 700,000 women without the condition, Dr. Sally Mortlock and Professor Grant Montgomery from the University of Queensland’s Institute for Molecular Bioscience worked with researchers from the University of Oxford and 24 teams from around the globe.
“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,” Dr. Mortlock said.
“Before this study, there were 17 genetic regions associated with endometriosis and now we have 42 regions with much richer data.
“It means we can find out what genes in these regions do and find new drug targets, leading to new treatments.”
Endometrium, a tissue that resembles the uterus’ lining and grows outside the uterus, is the primary cause of the severe inflammatory disorder endometriosis.
It affects 1 in 9 women of reproductive age, or 190 million women worldwide, and can result in infertility as well as chronic and severe pelvic discomfort, exhaustion, melancholy, and anxiety.
The study, according to Professor Montgomery, who has spent more than 20 years researching the genetics of endometriosis, was a significant step toward better diagnosis and treatment.
“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.
Dr. Mortlock said the shared genetic basis for endometriosis and other types of seemingly unrelated pain may indicate “sensitization” of the central nervous system.
“This makes people suffering from chronic pain more prone to other types of pain,” Dr. Mortlock said.
The findings open up new avenues for the treatment of endometriosis.
“Perhaps in some cases, we need to be designing pain treatments rather than hormonal treatments,” Dr. Mortlock said.
Data from UK Biobank and 23andMe were used in the study, which was directed by Professor Krina Zondervan and Dr. Nilufer Rahmioglu of Oxford University.
An enormous scientific database and research tool, UK Biobank contains de-identified genetic, lifestyle, and health data from 500,000 UK individuals. The database of the UK Biobank, which contains the genetic information, heart and brain scans, and blood samples of the volunteer participants, is available to authorized researchers throughout the world who are engaged in health-related public interest research.
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