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Study of 2.5 Million People Identifies 26 Genetic Risk Factors for Fibromyalgia

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An international team of researchers analyzed genetic data from more than 2.5 million adults, including 55,000 diagnosed with fibromyalgia, identifying DNA sequence variants in 26 regions of the genome that affect the risk of developing the syndrome. The study involved 53 researchers across seven countries and drew from 11 health research cohorts in the US, UK, Finland, Estonia, Denmark, and Iceland. Many of the implicated genes are involved in brain and nerve function.

The strongest genetic association was with a variant in the HTT gene, which also causes Huntington's disease when mutated. Carriers of this variant showed approximately a 9% increased odds of fibromyalgia. Another variant pointed to the GPR52 receptor, which regulates HTT levels and is already being investigated as a possible drug target in Huntington's disease. The findings provide the strongest evidence yet that fibromyalgia is primarily a nervous system disorder rather than an autoimmune disease.

Fibromyalgia is characterized by widespread pain and tenderness, fatigue, and problems with sleep, memory and mood. It affects about two percent of the global population, though estimates range from 2% to 8%. The study also found genetic overlap between fibromyalgia and conditions including lower back pain, irritable bowel syndrome, and post-traumatic stress disorder, suggesting shared nervous system mechanisms.

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