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G.P.5.06 HLA alleles and MHC haplotypes in sporadic inclusion body myositis: Frequencies and phenotypic correlations

Needham, M., Scott, A., Christiansen, F., James, I., Corbett, A., Day, T., Kiers, L., Laing, N., Allcock, R. and Mastaglia, F.L. (2008) G.P.5.06 HLA alleles and MHC haplotypes in sporadic inclusion body myositis: Frequencies and phenotypic correlations. Neuromuscular Disorders, 18 (9-10). pp. 770-771.

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Background. Sporadic inclusion body myositis (sIBM) is strongly associated with HLA-DR3 and the MHC 8.1 ancestral haplotype (AH) in Caucasians, but less is known about other HLA associations or whether HLA haplotypes modify disease expression. Objective. To determine the frequency of HLA alleles and haplotypes in a cohort of 80 Australian Caucasian cases of biopsy-proven sIBM and correlations with phenotypic features. Methods. Patients were recruited from neuromuscular clinics in Perth, Melbourne and Sydney. All were examined by one or more of the authors and fulfilled the criteria for definite or probable sIBM [1] and [2]. Typing for Class I and II HLA alleles was performed by high resolution sequence-based genotyping, and assignment of ancestral haplotypes (AHs) was predicted from the presence of specific HLA-B and DRB1 alleles. The frequencies of alleles and AHs were compared with a control group of 190 healthy Caucasian West Australians. Results. The strong association with HLA-DR3 (p < 0.001), HLA-B8 (p < 0.001) and the 8.1AH (p < 0.001) was confirmed. Significant positive associations were also found with HLA-DR1 (p < 0.001) and the 7.2AH (p = 0.026), as well as with HLA-B55 (p = 0.018), the 52.1AH (p = 0.052) and 62.3AH (p = 0.023). HLA-DR1 (p = 0.06) and B27 (p = 0.04) were associated with an earlier age-of-onset. HLA-DR3 was associated with a lower quadriceps muscle strength (p = 0.04) and B27 and B49 with higher quadriceps strength even when allowing for treatment as an independent variable. Conclusions. The findings demonstrate novel HLA alleles and MHC haplotypes associated with susceptibility to sIBM in a Caucasian population, and that certain HLA alleles have a disease-modifying effect.

Item Type: Journal Article
Murdoch Affiliation(s): Centre for Clinical Immunology and Biomedical Statistics
Publisher: Elsevier BV
Copyright: © 2008 Published by Elsevier B.V.
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