Recent large-scale studies have identified genetic factors that might increase the risk of developing chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME). Researchers have associated eight regions of the human genome with this condition based on DNA analyses from over 15,000 affected individuals.

“Our research offers the first strong evidence for genetic influences,” says Sonya Chowdhury from the UK charity Action for ME.

In the long term, these findings may aid in creating new diagnostic tools and treatments for ME/CFS. This condition has been recognized for decades and is primarily characterized by a debilitating response to minimal exertion, often accompanied by fatigue after mental effort.

Chowdhury adds that the results provide “recognition and validation” for individuals suffering from this condition. “Many people have been dismissed with comments such as, ‘It’s not a real illness,'” she explains. “They visited doctors who often downplayed their symptoms.”

“This represents a significant breakthrough for patients,” notes Andy Devereux Cooke, co-founder of Science for ME, a forum supporting those with the condition.

The research, termed Decode, involved analysis of DNA from over 15,500 individuals with ME/CFS against approximately 260,000 samples from unaffected individuals.

“Eight genetic signals were identified,” explains Chris Ponting from the University of Edinburgh, UK. These genomic regions appear to differ significantly in individuals with ME/CFS, suggesting that genetic variants in these areas could influence the likelihood of developing the condition. The findings were announced at a press briefing but have not yet been published in scientific journals or preprint platforms.

Among these eight regions, the research team pinpointed 43 protein-coding genes, with 29 deemed particularly noteworthy. “Delving into these genetic signals reveals associations with both immune and nervous system functions,” Ponting states. “Notably, the activity of these genes is prevalent in brain tissue, indicating a potential link to nervous system involvement.”

Additionally, researchers uncovered immune system-related genes, particularly rabgap1l, which may significantly heighten the risk of CFS. This aligns with anecdotal reports from many individuals with the condition, who often cite prior mild infections as precursors to their symptoms.

“I believed there was something distinct about the immune systems of individuals suffering from ME/CFS,” comments Jackie Cliff from Brunel University in London, noting that this study represents a substantial advancement in ME/CFS research.

Despite the fact that ME/CFS is significantly more prevalent in women, this study found no differences in genetic susceptibility between men and women. However, the team has yet to analyze the X and Y sex chromosomes.

The next steps involve examining these eight genome regions in greater depth to comprehend how genetic variations translate into molecular and cellular processes, both with and without ME/CFS. This could potentially pave the way for diagnostic tests and targeted treatments addressing the fundamental mechanisms of the disorder. However, this progress is contingent upon securing research funding, which is currently limited, says Cliff.

ME/CFS is estimated to impact 67 million individuals globally. A 2017 report from Think Tank 20/20 Health estimated that it incurs costs of £3.3 billion annually to the UK economy due to decreased productivity and healthcare expenses. “It’s an overlooked and marginalized illness that deserves attention and investment,” emphasizes Ponting.