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Genetic Variations in Subjects with ME

Updated: Jan 25, 2023

Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis


Authors: KA Schlauch1, SF Khaiboullina2,3, KL De Meirleir2, S Rawat2, J Petereit1, AA Rizvanov3, N Blatt3, T Mijatovic4, D Kulick5, A Palotás3,6 and VC Lombardi1,2 Publication: Citation: Transl Psychiatry (2015) 6, e●●; doi:10.1038/tp.2015.208

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 9 06 600 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-valueo0.05). 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.

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