Fibromyalgia genetic risk factors identified in 2.5 million-person study
Researchers found 26 genome regions tied to fibromyalgia risk, pointing to nervous-system biology behind the chronic pain disorder.
By Tom Brennan · Health & Medicine Correspondent
3 min read
Fibromyalgia genetic risk factors have been identified in the largest study of its kind, according to researchers involved in a paper published in Nature Medicine. The findings matter because they add evidence that the disorder has biological roots tied to pain processing in the nervous system.
King's College London said scientists analyzed genetic data from more than 2.5 million adults, including 55,000 people diagnosed with fibromyalgia. The team compared millions of DNA differences in people with and without the condition to look for variants that appeared more often among those diagnosed.
Fibromyalgia is a chronic disorder marked by widespread pain and tenderness, fatigue, sleep problems, and difficulties with memory and mood. King's College London said it affects about 2% of people worldwide, while its biological causes have remained unclear.
What did the fibromyalgia genetic study find?
The researchers identified DNA variants in 26 regions of the genome that influence a person's risk of developing fibromyalgia, King's College London said. Many of the genes in those regions are connected to brain and nerve function, supporting the view that altered pain processing is part of the condition.
Frances Williams, professor of genomic epidemiology at King's College London and a co-senior author of the paper, helped assemble data from 11 health research studies in the United States, the United Kingdom, Finland, Estonia, Denmark and Iceland. The project involved 53 researchers across seven countries, according to King's College London.
Williams said the large dataset gives the team confidence that the signals are genuine and indicates that fibromyalgia involves a problem in how pain is processed. Michael Wainberg, an investigator at the Lunenfeld-Tanenbaum Research Institute and the University of Toronto and a co-senior author, said the findings support a clear biological basis for a condition whose patients have often been dismissed.
Why the Huntington's disease link stood out
The variant most strongly associated with fibromyalgia risk was found within HTT, the gene in which different mutations cause Huntington's disease, King's College London said. Huntington's disease is a severe, progressive and fatal neurodegenerative disorder.
The study also pointed to a receptor called GPR52, which regulates HTT levels. King's College London said GPR52 is already being studied as a possible drug target in Huntington's disease, raising the possibility that existing pharmaceutical research could later inform fibromyalgia research.
The authors did not report a new diagnostic test or treatment. Instead, they said the results provide clues about biological pathways that could help researchers improve how fibromyalgia is identified, understood and treated.
How genes may connect fibromyalgia with other conditions
The study found substantial genetic overlap between fibromyalgia and several other conditions, including low back pain, irritable bowel syndrome and post-traumatic stress disorder, according to King's College London. Researchers think shared nervous-system mechanisms may help explain why some of these disorders occur in the same people.
Williams said chronic pain syndromes often cluster in individuals and families and appear genetically similar. She said targeting shared mechanisms could potentially help a group of related disorders, rather than one diagnosis at a time.
The authors also cautioned that genes do not determine fibromyalgia risk on their own. Nasa Sinnott-Armstrong, assistant professor at Fred Hutch Cancer Center and a co-senior author, said future work needs to examine how genetic risk, environmental exposures and life events combine, including possible triggers and changes in neural tissues.
King's College London said the researchers have founded the Chronic Pain Genomics Consortium to study other chronic pain syndromes, beginning with pelvic pain. Williams said the new findings may also help explain why fibromyalgia often appears alongside anxiety and depression.
This story draws on original reporting from Medical Xpress.