Largest fibromyalgia genetics study finds 26 risk regions, confirms biological basis

The largest genetic study of fibromyalgia ever conducted has identified 26 regions of the genome that affect a person's risk of the condition, researchers report in the journal Nature Medicine.

The multi-ancestry analysis examined genetic data from more than 2.5 million adults, of whom roughly 55,000 had been diagnosed with fibromyalgia. It drew on 11 health research studies from the United States, the United Kingdom, Finland, Estonia, Denmark and Iceland, and involved 53 researchers across seven countries.

Fibromyalgia is characterised by widespread pain and tenderness, fatigue, and problems with sleep, memory and mood. It affects about 2 percent of the global population, yet its biological causes had remained unclear.

A link to the Huntington's gene

Of the 26 variants identified, the one most strongly linked to fibromyalgia risk sits within the gene HTT. Different mutations in that gene cause Huntington's disease, a severe and fatal neurodegenerative disorder. A second variant points to a receptor called GPR52, which regulates HTT levels and is already being investigated as a possible drug target for Huntington's disease.

Many of the genes implicated in the 26 regions are involved in brain and nerve function, pointing to the nervous system as central to the disorder. The study also found substantial genetic overlap between fibromyalgia and other conditions, including low back pain, irritable bowel syndrome and post-traumatic stress disorder.

"By studying the DNA of over 2 million individuals we can be confident that the findings are real and they suggest that fibromyalgia represents a problem in pain processing," said Professor Frances Williams, co-senior author and Professor of Genomic Epidemiology at King's College London.

Dr. Michael Wainberg, a co-senior author at the Lunenfeld-Tanenbaum Research Institute and the University of Toronto, said the work changes how the condition is understood. "For decades, patients have been dismissed or told their pain is simply psychological. Our findings confirm the condition has a clear biological basis," he said.

Shared mechanisms

Williams said the clustering of chronic pain syndromes suggests a common thread. "Targeting the shared mechanisms underlying them could potentially benefit a whole cluster of disorders," she said.

The findings do not yet provide a genetic test for diagnosing fibromyalgia or a new treatment. The authors say the results offer insight into the underlying biology that could help researchers develop better ways to identify and treat the condition, and note that genetics are not the only determinant of whether someone develops it.