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BioMed Research International
Volume 2013 (2013), Article ID 404053, 12 pages
http://dx.doi.org/10.1155/2013/404053
Review Article

Recent Advances in Genetic Predisposition of Myasthenia Gravis

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

Received 9 June 2013; Accepted 11 September 2013

Academic Editor: Amedeo Amedei

Copyright © 2013 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 autoimmune disease mediated by the presence of autoantibodies that bind to components of the neuromuscular junction, causing the symptoms of muscular weakness and fatigability. Like most autoimmune disorders, MG is a multifactorial, noninherited disease, though with an established genetic constituent. The heterogeneity observed in MG perplexes genetic analysis even more, as it occurs in various levels, including diverse autoantigens, thymus histopathology, and age at onset. In this context of distinct subgroups, a plethora of association studies, discussed in this review, have assessed the involvement of various HLA and non-HLA related loci in MG susceptibility, over the past five years. As expected, certain HLA alleles were strongly associated with MG. Many of the non-HLA genes, such as PTPN22 and CTLA-4, have been previously studied in MG and other autoimmune diseases and their association with MG has been reevaluated in more cohesive groups of patients. Moreover, novel risk or protective loci have been revealed, as in the case of TNIP1 and FOXP3. Although the majority of these results have been derived from candidate gene studies, the focal point of all recent genetic studies is the first genome-wide association study (GWAS) conducted on early-onset MG patients.