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Clinical and Developmental Immunology
Volume 2012, Article ID 484919, 7 pages
http://dx.doi.org/10.1155/2012/484919
Research Article

Genetics of Myasthenia Gravis: A Case-Control Association Study in the Hellenic Population

1Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, Greece
2Department of Biochemistry, Hellenic Pasteur Institute, 127 Vassilissis Sofias Avenue, 11521 Athens, Greece

Received 15 June 2012; Accepted 16 August 2012

Academic Editor: Timothy B. Niewold

Copyright © 2012 Zoi Zagoriti et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.