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Sporadic inclusion body myositis: Variability in prevalence and phenotype and influence of the MHC

Mastaglia, F.L. (2009) Sporadic inclusion body myositis: Variability in prevalence and phenotype and influence of the MHC. Acta Myologica : Myopathies and cardiomyopathies : Official journal of the Mediterranean Society of Myology, 28 (2). pp. 66-71.

Link to Published Version: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC285895...
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Abstract

Sporadic inclusion body myositis (sIBM) is the most common myopathy presenting over the age of 40 years but its prevalence varies considerably in different populations. Genetic factors play a part in the pathogenesis of sIBM and in Caucasians susceptibility has been linked to the HLA-DR3 allele and the 8.1 MHC ancestral haplotype (AH) which is also associated with other autoimmune diseases. The variable prevalence of sIBM in different populations may be related to differences in the population frequency of this haplotype. Our recent observations indicate that the clinical phenotype at presentation is also quite variable and that the influence of the MHC is more complex than previously appreciated with HLA alleles also having modifying effects on the age-at-onset, severity and rate of progression of the disease. Recent recombinant mapping studies of polymorphisms in the Class II/III regions of the MHC by our group have further refined the susceptibility region and have identified a number of candidate genes warranting further investigation. The significance of these findings for the pathogenesis of the disease is discussed.

Publication Type: Journal Article
Publisher: Mediterranean Society of Myology
Copyright: 2009 Gaetano Conte Academy
URI: http://researchrepository.murdoch.edu.au/id/eprint/25527
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