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High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: An analysis of disease-associated alleles and diplotypes

Rojana-udomsart, A., James, I., Castley, A., Needham, M., Scott, A., Day, T., Kiers, L., Corbett, A., Sue, C., Witt, C., Martinez, P., Christiansen, F. and Mastaglia, F. (2012) High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: An analysis of disease-associated alleles and diplotypes. Journal of Neuroimmunology, 250 (1-2). pp. 77-82.

Link to Published Version: http://dx.doi.org/10.1016/j.jneuroim.2012.05.003
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Abstract

We performed high-resolution (4-digit) HLA-DRB1 genotyping in an Australian cohort of 105s-IBM patients and 189 controls. Our findings showed that whilst the strongest association was with the HLA-DRB1*03:01 allele and the HLA-DRB1*03:01/*01:01 diplotype, HLA-DRB1*01:01 and HLA-DRB1*13:01 are also risk alleles. A number of other alleles, HLA-DRB1*04:01, *04:04, *07:01, *09:01, *11:01 and *15:01, as well as the HLA-DRB1*03:01/*04:01 and HLA-DRB1*03:01/*07:01 diplotypes were reduced in s-IBM cases and may be protective. The HLA-DRB1*03:01 and HLA-DRB1*13:01 alleles also appear to have an influence on the age at onset of the disease and severity of muscle weakness. Our findings indicate that the influence of HLA-DRB1 in s-IBM is complex and that epistatic interactions at the HLA-DRB1 locus contribute both to disease susceptibility and to the clinical phenotype.

Item Type: Journal Article
Murdoch Affiliation: Centre for Clinical Immunology and Biomedical Statistics
Institute for Immunology and Infectious Diseases
Publisher: Elsevier
URI: http://researchrepository.murdoch.edu.au/id/eprint/10180
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