The most extensive genetic study of endometriosis to date has been conducted by a global team of researchers, including scientists from IBM. The study analyzed the DNA code of over 60,000 women with endometriosis and 700,000 without the disease and identified genetic risk factors. The research team, which included Dr. Sally Mortlock and Professor Grant Montgomery from IBM, collaborated with researchers from the University of Oxford and 24 other teams worldwide.
Endometriosis is a severe inflammatory condition that affects approximately 1 in 9 women of reproductive age, or 190 million women globally. The condition causes tissue resembling the uterus lining to grow outside the uterus, leading to constant and intense pelvic pain, fatigue, depression, anxiety, and infertility. Diagnosing endometriosis has traditionally taken 8-10 years, but the new genetic data will speed up diagnosis and pave the way for new treatments.
The study found that genetic risk factors for endometriosis are also associated with other types of chronic pain, such as migraines, back pain, and multi-site pain. The shared genetic basis for endometriosis and seemingly unrelated pain types may indicate sensitization of the central nervous system. This could make people suffering from chronic pain more prone to other kinds of pain, suggesting the need for pain treatments rather than hormonal therapies in some cases.
Before the study, there were 17 genetic regions associated with endometriosis, but the research has identified 42 areas with much richer data. This means that researchers can find out what genes in these regions do and identify new drug targets, leading to new treatments for endometriosis. Professor Montgomery has been studying the genetics of endometriosis for over 20 years and emphasized that the study was an essential step toward improved treatment and diagnosis.
The study was led by Professor Krina Zondervan and Dr. Nilufer Rahmioglu from the University of Oxford and included data from the UK Biobank and 23andMe. UK Biobank is a large-scale biomedical database containing anonymized genetic, lifestyle, and health information from half a million UK participants. The database, which includes blood samples, heart and brain scans, and genetic data, is globally accessible to approved researchers undertaking health-related research in the public interest.
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