Shimosako, Nana, Kerr, Jonathan R · Journal of clinical pathology · 2014 · DOI
This study looked at small variations in DNA (called SNPs) from people with ME/CFS to see if these genetic differences could help identify different subtypes of the condition. Researchers compared DNA from 108 ME/CFS patients with 17 people with depression and 68 healthy people. They found that certain genetic variations were more common in ME/CFS patients and that different combinations of these variations appeared to match different subtypes of the illness.
ME/CFS lacks a reliable biological diagnostic test, making this research important because it explores whether genetic markers could eventually help diagnose the condition and distinguish between different subtypes that may respond differently to treatment. Identifying genetic subtypes could improve patient management by enabling more targeted therapeutic approaches based on individual genetic profiles.
This study does not prove that these genetic variations cause ME/CFS, only that they are associated with it—the underlying mechanism remains unknown. The study also does not demonstrate clinical utility; while SNP patterns correlate with subtypes, the authors explicitly state that further work is needed before this could become a practical diagnostic test. Additionally, the findings are limited to the specific population studied and would require validation in independent, larger cohorts before drawing broad conclusions.
About the PEM badge: “PEM required” means post-exertional malaise was an explicit required diagnostic criterion for participant inclusion in this study — not that PEM was studied, observed, or discussed. Studies using criteria that do not require PEM (e.g. Fukuda, Oxford) are tagged “PEM not required”. How the atlas works →
The first block is for the primary paper and is the citation you should use in research work. The atlas-snapshot line only applies if you are specifically referring to this atlas’s reading of the paper on the date shown.
Primary citation
Shimosako, Nana & Kerr, Jonathan R (2014). Use of single-nucleotide polymorphisms (SNPs) to distinguish gene expression subtypes of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME).. Journal of clinical pathology. https://doi.org/10.1136/jclinpath-2014-202597
BibTeX
@article{mecfsatlas-shimosako-2014-use-single,
author = {Shimosako, Nana and Kerr, Jonathan R},
title = {Use of single-nucleotide polymorphisms (SNPs) to distinguish gene expression subtypes of chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME).},
journal = {Journal of clinical pathology},
year = {2014},
doi = {10.1136/jclinpath-2014-202597},
note = {PubMed: 25240059},
url = {https://www.mecfsatlas.com/evidence/shimosako-2014-use-single},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-30. https://www.mecfsatlas.com/evidence/shimosako-2014-use-single
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