title: Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome.
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.
authors: Department of Biochemistry and Molecular Biology, University of Nevada, Reno, NV, USA.
authors: K A
authors: KA
authors: Schlauch
authors: Nevada Center for Biomedical Research, University of Nevada, Reno, NV, USA.|Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russian Federation.
authors: S F
authors: SF
authors: Khaiboullina
authors: Nevada Center for Biomedical Research, University of Nevada, Reno, NV, USA.
authors: K L
authors: KL
authors: De Meirleir
authors: Nevada Center for Biomedical Research, University of Nevada, Reno, NV, USA.
authors: S
authors: S
authors: Rawat
authors: Department of Biochemistry and Molecular Biology, University of Nevada, Reno, NV, USA.
authors: J
authors: J
authors: Petereit
authors: Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russian Federation.
authors: A A
authors: AA
authors: Rizvanov
authors: Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russian Federation.
authors: N
authors: N
authors: Blatt
authors: R.E.D Laboratories, Zellik, Belgium.
authors: T
authors: T
authors: Mijatovic
authors: Mayo Clinic, Scottsdale, AZ, USA.
authors: D
authors: D
authors: Kulick
authors: Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russian Federation.|Asklepios-Med (private medical practice and research center), Szeged, Hungary.
authors: A
authors: A
authors: Palotás
authors: Department of Biochemistry and Molecular Biology, University of Nevada, Reno, NV, USA.|Nevada Center for Biomedical Research, University of Nevada, Reno, NV, USA.
authors: V C
authors: VC
authors: Lombardi
mesh_terms: D015673:Fatigue Syndrome, Chronic / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide