Marshall-Gradisnik, Sonya, Johnston, Samantha, Chacko, Anu et al. · The Journal of international medical research · 2016 · DOI
This small study looked at genetic differences in immune cells (B cells) from ME/CFS patients compared to healthy people. Researchers found that ME/CFS patients had more variations in genes controlling calcium flow and acetylcholine signaling—two processes important for immune cell communication. Some of these genetic variations were much more common in patients with ME/CFS, suggesting they might play a role in the disease.
This research provides genetic evidence supporting a potential immune mechanism in ME/CFS, particularly linking B cell dysfunction to calcium and acetylcholine signaling abnormalities. The findings are relevant to recent clinical observations that some ME/CFS patients respond to anti-CD20 antibody therapy and show muscarinic antibody positivity, suggesting these genetic variants may help identify subgroups of patients who might benefit from targeted treatments.
This study does not prove that these genetic variations cause ME/CFS—it only shows association in a very small sample. The study cannot establish whether these genetic differences directly cause the observed immune dysfunction or are secondary consequences of the disease. Additionally, genetic variation does not necessarily translate to functional abnormality without further cellular and biochemical validation.
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
Marshall-Gradisnik, Sonya, Johnston, Samantha, Chacko, Anu, Nguyen, Thao, Smith, Peter, & Staines, Donald (2016). Single nucleotide polymorphisms and genotypes of transient receptor potential ion channel and acetylcholine receptor genes from isolated B lymphocytes in myalgic encephalomyelitis/chronic fatigue syndrome patients.. The Journal of international medical research. https://doi.org/10.1177/0300060516671622
BibTeX
@article{mecfsatlas-marshall-gradisnik-2016-single-nucleotide,
author = {Marshall-Gradisnik, Sonya and Johnston, Samantha and Chacko, Anu and Nguyen, Thao and Smith, Peter and Staines, Donald},
title = {Single nucleotide polymorphisms and genotypes of transient receptor potential ion channel and acetylcholine receptor genes from isolated B lymphocytes in myalgic encephalomyelitis/chronic fatigue syndrome patients.},
journal = {The Journal of international medical research},
year = {2016},
doi = {10.1177/0300060516671622},
note = {PubMed: 27834303},
url = {https://www.mecfsatlas.com/evidence/marshall-gradisnik-2016-single-nucleotide},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-30. https://www.mecfsatlas.com/evidence/marshall-gradisnik-2016-single-nucleotide
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