New Delhi: A team of international researchers has identified new genetic risk factors associated with fibromyalgia syndrome — a long-term medical condition that causes widespread body pain, fatigue, sleep problems, and affects more women than men.
In a study published on 28 July in Nature, researchers analysed genetic data from more than 2.5 million adults, identifying 26 genetic variants throughout the genome associated with fibromyalgia. The study highlighted that these genetic variants are parts of the genetic code found more frequently in fibromyalgia compared to healthy adults.
The study is evidence that fibromyalgia is primarily a nervous system disorder rather than an autoimmune disease, as was understood earlier.
“This study provides robust genetic evidence defining fibromyalgia as a central nervous system disorder, thereby establishing a biological framework for its complex pathophysiology and extensive clinical comorbidities,” the study read.
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The findings
According to the study, out of the 26 genetic variants identified, the strongest associated variant was observed within the HTT gene, which is located on the short arm of chromosome 4, and provides instructions for making the protein huntingtin — essential for normal cell function, growth, and survival.
Other mutations in this gene are also known to cause Huntington’s disease — a fatal brain disorder that causes nerve cells to break down progressively. Another associated variant pointed to a receptor called GPR52 that regulates HTT levels. This receptor is already being investigated as a possible drug target in Huntington’s disease.
The teams matched the findings with a dataset of 20 million cells from various tissues and found more pressing evidence for a neurological origin for fibromyalgia. Scientists found that the genes near fibromyalgia genetic risk factors were more active in nervous system cells than in other cells. This, the study said, set fibromyalgia apart from traditional autoimmune conditions.
The study added that genetics was not the only factor determining whether someone develops fibromyalgia. Researchers said that even people carrying multiple fibromyalgia variants likely required another risk factor to trigger the fibromyalgia syndrome.
There is a substantial genetic overlap between fibromyalgia and a range of other conditions, including lower back pain, irritable bowel syndrome, and post-traumatic stress disorder. The findings hinted that shared biological mechanisms within the nervous system may make people susceptible to several of these conditions. This could be a possible explanation to why they often appear together.
“Fibromyalgia showed strong, positive genetic correlation with a wide range of chronic pain, psychiatric and somatic disorders, including genetic correlations above 0.7 with low back pain, post-traumatic stress disorder and irritable bowel syndrome,” the study read.
Curiously, while the syndrome is understood to impact roughly three times more women than men, there was no genetic difference that set women at more risk. This suggested that the prevalence in women could be because of other non-genetic factors, including hormones or their environment.
(Edited by Janaki Pande)