Smith, Alicia K, Fang, Hong, Whistler, Toni et al. · Neuropsychobiology · 2011 · DOI
Researchers used a novel genetic screening approach to search for genes that might be involved in ME/CFS by comparing DNA variants and gene activity between people with ME/CFS and healthy controls. They identified two genes—GRIK2 and NPAS2—that showed both genetic differences and altered activity levels in people with ME/CFS. GRIK2 is involved in communication between nerve cells, while NPAS2 controls the body's internal clock, suggesting these biological systems may play a role in the condition.
This is one of the first genome-wide efforts to systematically identify genetic associations in ME/CFS using an integrative approach. Implicating glutamatergic neurotransmission and circadian rhythm genes provides testable biological hypotheses that could explain some ME/CFS symptoms and guide development of targeted diagnostics or therapeutics.
This study does not prove that GRIK2 or NPAS2 variants cause ME/CFS, only that they are statistically associated with the condition in this population. The findings require independent replication in larger cohorts before clinical application. Genetic association does not establish mechanism or treatment relevance.
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 →
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Primary citation
Smith, Alicia K, Fang, Hong, Whistler, Toni, Unger, Elizabeth R, & Rajeevan, Mangalathu S (2011). Convergent genomic studies identify association of GRIK2 and NPAS2 with chronic fatigue syndrome.. Neuropsychobiology. https://doi.org/10.1159/000326692
BibTeX
@article{mecfsatlas-smith-2011-convergent-genomic,
author = {Smith, Alicia K and Fang, Hong and Whistler, Toni and Unger, Elizabeth R and Rajeevan, Mangalathu S},
title = {Convergent genomic studies identify association of GRIK2 and NPAS2 with chronic fatigue syndrome.},
journal = {Neuropsychobiology},
year = {2011},
doi = {10.1159/000326692},
note = {PubMed: 21912186},
url = {https://www.mecfsatlas.com/evidence/smith-2011-convergent-genomic},
}Atlas snapshot reference
ME/CFS Atlas. Generator v1 / Scanner v1.4 / policy v0.1. Accessed 2026-05-30. https://www.mecfsatlas.com/evidence/smith-2011-convergent-genomic
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