Journal article

Analysis of HLA-DRB3 alleles and supertypical genotypes in the MHC Class II region in sporadic inclusion body myositis

A Rojana-udomsart, C Mitrpant, SD Wilton, FL Mastaglia, I James, C Witt, P Martinez, M Needham, T Day, L Kiers, A Corbett

Journal of Neuroimmunology | Published : 2012

Abstract

We compared the carriage frequencies of HLA-DRB3 and its major alleles and of HLA-DRB4 and HLA-DRB5 in an Australian sIBM cohort and a population control group who had previously been genotyped for the HLA-DRB1*03:01 risk allele. There was a strong disease association with the carriage of the DRB3*01:01 allele which was accounted for by its linkage disequilibrium with DRB1*03:01. The carriage of HLA-DRB4 was found to be strongly protective and abrogated the risk effect of HLA-DRB1*03:01. The findings indicate that haplotypic combinations of alleles at the HLA-DRB1 and secondary HLA-DRB loci have important risk modifying effects in sIBM. © 2012 Elsevier B.V. All rights reserved.

University of Melbourne Researchers

Grants

Funding Acknowledgements

Dr A Rojana-udomsart was supported by the Enid and Arthur Home Memorial Scholarship and a University of Western Australia Scholarship for International Research Fees (SIRF). Dr C Mitrpant was partially supported by Chalermphrakiat grant, Faculty of Medicine, Siriraj Hospital, Mahidol University. We thank Dr V. Fabian and Dr. R. Junckerstorff from the Section of Neuropathology, Royal Perth Hospital and the other pathologists who reported the muscle biopsies, and the clinicians who referred patients. The authors also acknowledge the staff of the Department of Clinical Immunology at Royal Perth Hospital who performed the HLA genotyping and the Busselton Research Foundation for access to the control DNA samples. Financial support for the study was provided by the Neuromuscular Foundation of Western Australia.