Large scale study reveals areas of the genome associated with ME/CFS

Genetic differences found in people with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) may provide evidence that genetics plays a role in the condition.

The unpublished study, which has not yet been peer-reviewed, is the result of the DecodeME study: a collaboration between the University of Edinburgh, and charities Action for ME and Forward ME. Researchers on the project identified differences in eight areas of the genomes of people with ME/CFS.

'DecodeME has revealed genetic results, which should prove game-changing in the ME/CFS research field, and that also align with decades of patients reporting on their experiences,' said co-investigator Andy Devereux-Cooke, who is affected by the condition himself. 'These results will not mean that a test or cure will be developed straight away, but they will lead to a greater understanding of ME/CFS.'

ME/CFS affects around 67 million people worldwide. There is no cure, no diagnostic test, and little is known about its causation. Symptoms include pain, brain fog and extreme energy limitations that do not improve with rest, which often start after an infectious illness.

The DecodeME study used genome-wide association studies (GWAS) to analyse 15,579 DNA samples from 27,000 people with ME/CFS. Genes in the eight identified regions were linked to the immune and nervous systems and are involved in the body’s response to infections, as well as chronic pain. The researchers suggest that these genetic variants interact with environmental factors to increase the risk of a person developing ME/CFS.

'These extraordinary DNA results speak the language of ME/CFS, often recounting people's ME/CFS symptoms. DecodeME's eight genetic signals reveal much about why infection triggers ME/CFS, and why pain is a common symptom,' said investigator Professor Chris Ponting from the University of Edinburgh. 'ME/CFS is a serious illness and we now know that someone's genetics can tip the balance on whether they are diagnosed with it.'

The researchers attempted to replicate their results in other datasets from the UK Biobank and the Netherlands' Lifeline database, but were unable to do so. However, Dr Amy Mason, a public health statistician from the University of Cambridge who was not involved in the study, commented: 'This may reflect poor or inconsistent diagnosis data in those other datasets, rather than flaws in the DecodeME findings themselves.'

Co-investigator Sonya Chowdhury, CEO of Action for ME, said: 'With DecodeME, we have gone from knowing next to nothing about the causes of ME/CFS, to giving researchers clear targets. This brings ME/CFS in line with other long-term diseases which have genetic components. We hope this attracts researchers, drug developers, and proportionate funding to ME/CFS – and speeds up the discovery of treatments.'