Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome

• Published in: Translational psychiatry Vol. 6; no. 2; p. e730
• Main Authors: Schlauch, K A, Khaiboullina, S F, De Meirleir, K L, Rawat, S, Petereit, J, Rizvanov, A A, Blatt, N, Mijatovic, T, Kulick, D, Palotás, A, Lombardi, V C
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 09.02.2016; Nature Publishing Group
• Subjects: 38/43; 631/378/340; 692/699/476; Behavioral Sciences; Biological Psychology; Chronic fatigue syndrome; Fatigue Syndrome, Chronic - genetics; Female; Genetic Predisposition to Disease - genetics; Genetic Variation - genetics; Genome-Wide Association Study - methods; Humans; Male; Medicine; Medicine & Public Health; Middle Aged; Neurosciences; Original; original-article; Pharmacotherapy; Pilot Projects; Polymorphism, Single Nucleotide; Psychiatry
• ISSN: 2158-3188; 2158-3188
• 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 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.