The researchers conducted the largest genetic analysis of myalgia encephalomyelitis/chronic fatigue syndrome (ME/CFS) in history. This is a lifelong condition that affects the abilities of people who can exert physical effort and may debilitate them.
A decoding study recruiting more than 15,000 people from European ancestors to this condition revealed that eight stretches of the genome are linked to the syndrome. These were not previously linked to ME/CFS. Genetic mutants found in these locations are also found in some healthy individuals, studies suggest. However, in people with ME/CFS, variants are more likely to act alongside environmental factors and increase the risk of condition, the researchers said.
Chris Ponting, co-author of the study, a bioinformentine at the University of Edinburgh, said at a press conference on Wednesday (August 6) that the findings “provides me the first robust evidence of genetic contributions,” co-author Chris Ponting said.
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This new study has been released as a preprint by the University of Edinburgh and has not yet been peer-reviewed.
Estimates suggest that ME/CFS could affect 67 million people worldwide, but the exact prevalence is uncertain, suggesting that studies on how the disease manifests and how it was treated were late during the ice age. This is part of a dispute in the field about what characterizes important symptoms of the disease.
For years, leading psychiatrists positioned ME/CFS as a psychological state. These trusted theories suggest that syndromes are driven by the patient’s mental state and lack of movement, such as brain fog, fatigue that is not alleviated by rest, and chronic pain. These ideas were revealed in part because several clinical studies conducted in ME/CFS failed to identify biological changes linked to distinct triggers of syndromes or observed symptoms.
Related: “I took a rug from under my life”: Milestone ME/CFS research begins to explain the illness, but will it lead to treatment?
Now, new research adds to increasing evidence linking symptoms to dysfunction of the nervous and immune system.
“Our findings provide credibility and validity to the experiences of those who are with me,” Sonya Chowdhury, CEO of ME/CFS Charity Action, said at a press conference.
Decoding was involved in genome-wide association studies (GWAS). This is a genetic analysis looking for links between general variability in the genome and other characteristics such as the presence of a particular disease. In this study, two separate GWAS were performed in approximately 15,600 ME/CFS patients.
The patient’s genome was compared to those without ME/CFS, where genetic information was previously recorded in a UK biobank, which contains data from 500,000 UK adults. Together, two GWAS identified eight loci (genome locations) that were strongly associated with whether a person had ME/CFS. In these important places, they marked the genes most likely to affect the risk of those developing the condition.
These genes included several linked immune function. One is BTN2A2, which in previous studies could affect T-cell function, the key to combating bacteria. One locus contained Ca10, a previously linked gene, which was pain. The authors say this link may help explain hypersensitivity to light, sound and touch in ME/CFS patients.
Genetic links do not reflect changes brought about by disease. Instead, they suggest biological systems that affect how people who are vulnerable to ME/CFS development affect.
The authors made an effort to replicate the data by examining whether these same associations could be drawn using the 13,800 ME/CFS cases recorded in the UK Biobank and Dutch lifeline databases. However, none of the relevances have been reproduced after statistical corrections.
“This may not be flawed in the decoding discoveries themselves, but rather reflect inadequate or inconsistent data with diagnostic data from other datasets,” Amy Mason, a Cambridge University researcher who was not involved in the study, told the UK’s Science Media Centre.
Long covid– A long-term condition that appears after a Covid-19 infection and affects many systems within the body has been recognized to share symptoms with ME/CFS. However, DeCodeme was not identified either of the same genetic signals found in a similarly sized GWAS analysis of Long Covid, published earlier this year, Ponting said. At this point, it is unclear why this is the case.
ME/CFS is a very sexually biased disorder. Approximately 80% of patients are women. Although the Decodeme study did not identify strong sex links, Mason noted that the team did not see the X or Y chromosome where sex-linked traits were found. The analysis also focuses entirely on people of European descent and may limit its value to patients of other ancestors.
The authors hope that decoding medication will become a jump-off point for further research, which can explore genetic signals in greater detail and identify biological mechanisms that suggest it is involved in ME/CFS. For now, the findings cannot proceed with diagnostic or screening of the condition, Ponting said.
“There is an urgent need for research targeting these areas to delve into these areas… to determine why each of these signals is linked to me,” he said.
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