title: Genetics of myasthenia gravis: a case-control association study in the Hellenic population.
abstract: Myasthenia gravis (MG) is an heterogeneous autoimmune disease characterized by the production of autoantibodies against proteins of the postsynaptic membrane, in the neuromuscular junction. The contribution of genetic factors to MG susceptibility has been evaluated through family and twin studies however, the precise genetic background of the disease remains elusive. We conducted a case-control association study in 101 unrelated MG patients of Hellenic origin and 101 healthy volunteers in order to assess the involvement of common genetic variants in susceptibility to MG. We focused on three candidate genes which have been clearly associated with several autoimmune diseases, aiming to investigate their potential implication in MG pathogenesis. These are interferon regulatory factor 5 (IRF-5), TNFα-induced protein 3 (TNFAIP3), also known as A20, and interleukin-10 (IL-10), key molecules in the regulation of immune function. A statistical trend of association (P = 0.068) between IL-10 promoter single nucleotide polymorphisms (SNPs) and the subgroups of early and late-onset MG patients was revealed. No statistically significant differences were observed in the rest of the variants examined. As far as we are aware, this is the first worldwide attempt to address the possible association between IRF-5 and TNFAIP3 common genetic variants and the genetic basis of MG.
authors.affiliation: Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, Greece.
authors.forename: Zoi
authors.initials: Z
authors.lastname: Zagoriti
authors.forename: Marianthi
authors.initials: M
authors.lastname: Georgitsi
authors.forename: Olga
authors.initials: O
authors.lastname: Giannakopoulou
authors.forename: Fotios
authors.initials: F
authors.lastname: Ntellos
authors.forename: Socrates J
authors.initials: SJ
authors.lastname: Tzartos
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: Konstantinos
authors.initials: K
authors.lastname: Poulas
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006115:Greece; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics; D016753:Interleukin-10 / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D009157:Myasthenia Gravis / Q000208:ethnology / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3; D044465:White People / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C508609:IL10 protein, human; C431713:IRF5 protein, human; D050835:Interferon Regulatory Factors; D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D016753:Interleukin-10; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3