Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome
Authors
Schlauch, K. A.
Khaiboullina, Svetlana F.
De Meirleir, Kenny L.
Rawat, Shanti
Petereit, Julia
Rizvanov, A. A.
Blatt, N.
Mijatovic, Tatjana
Kulick, Doina
Palm, Kathleen M.
Issue Date
2016
Type
Article
Language
Keywords
Alternative Title
Abstract
Myalgic encephalomyelitis, also known as chronic fatigue syndrome or ME/CFS, is a multifactorial and debilitating disease that has an impact on over 4 million people in the United States alone. The pathogenesis of ME/CFS remains largely unknown however, a genetic predisposition has been suggested. In the present study, we used a DNA single-nucleotide polymorphism (SNP) chip representing over 906,600 known SNPs to analyze DNA from ME/CFS subjects and healthy controls. To the best of our knowledge, this study represents the most comprehensive genome-wide association study (GWAS) of an ME/CFS cohort conducted to date. Here 442 SNPs were identified as candidates for association with ME/CFS (adjusted P-value < 0.05). Whereas the majority of these SNPs are represented in non-coding regions of the genome, 12 SNPs were identified in the coding region of their respective gene. Among these, two candidate SNPs resulted in missense substitutions, one in a pattern recognition receptor and the other in an uncharacterized coiled-coil domain-containing protein. We also identified five SNPs that cluster in the non-coding regions of T-cell receptor loci. Further examination of these polymorphisms may help identify contributing factors to the pathophysiology of ME/CFS, as well as categorize potential targets for medical intervention strategies.
Description
Citation
Schlauch, K. A., Khaiboullina, S. F., De Meirleir, K. L., Rawat, S., Petereit, J., Rizvanov, A. A., … Lombardi, V. C. (2016). Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome. Translational Psychiatry, 6(2), e730�"e730. doi:10.1038/tp.2015.208
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License
Creative Commons Attribution 4.0 International
Journal
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Issue
PubMed ID
ISSN
2158-3188