Gene Study Uncovers ME/CFS Links
Largest Genetic Analysis Reveals Eight Genome Regions Tied to Debilitating Syndrome
A groundbreaking genetic study involving over 15,000 individuals has identified eight previously unknown genetic regions associated with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), offering new insights into the complex illness. This research marks the most extensive genetic investigation into ME/CFS to date.
Key Genetic Discoveries
The DecodeME study, which focused on people of European ancestry, pinpointed specific gene variants that may interact with environmental factors to elevate an individual’s susceptibility to ME/CFS. Researchers emphasize that these variants can also be present in healthy individuals, suggesting a complex interplay of genetic predisposition and external triggers.
“Our findings provide the first robust evidence for genetic contributions to ME risk.”
—Chris Ponting, Bioinformatician, University of Edinburgh
The findings, released as a preprint by the University of Edinburgh, are poised to offer significant validation for the experiences of those living with ME/CFS, a condition that affects an estimated 67 million people globally, though exact prevalence remains uncertain.
Challenging Past Misconceptions
Historically, ME/CFS was sometimes wrongly characterized as a psychological condition, with discredited theories suggesting mental states and inactivity drove the illness. These outdated views arose partly due to a lack of clear biological markers. However, this new research adds to a growing body of evidence pointing towards dysfunction in the nervous and immune systems.
“Our findings will provide credibility and validity to the experience of people with ME.”
—Sonya Chowdhury, CEO, Action for M.E.
Unraveling the Genetic Basis
The study employed genome-wide association studies (GWAS), comparing the genomes of approximately 15,600 ME/CFS patients with those in the UK Biobank. This analysis identified eight specific genomic locations, or loci, strongly associated with the condition. Among the implicated genes are BTN2A2, known to influence T cell function, and CA10, previously linked to pain sensitivity, potentially explaining heightened sensory experiences in ME/CFS patients.
While initial attempts to replicate these findings using separate datasets were unsuccessful, researchers suggest this may be due to diagnostic inconsistencies in the other databases rather than flaws in the DecodeME results. The study’s focus on European ancestry, however, means further research is needed to understand genetic links across diverse populations.
Notably, the study did not find genetic signals similar to those identified in a large-scale GWAS of long COVID, despite shared symptoms between the two conditions. Additionally, the research did not examine sex chromosomes, where potential sex-linked traits contributing to ME/CFS, which disproportionately affects women, might reside.
The DecodeME findings are considered a vital first step, with researchers emphasizing the urgent need for further investigation to pinpoint the precise biological mechanisms driving ME/CFS and to accelerate the development of diagnostic tools and effective treatments. According to a 2023 report by the National Academy of Medicine, ME/CFS research funding in the United States remains significantly lower than for other comparable illnesses (National Academy of Medicine, 2023).
