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  • Title: Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype.
    Author: Mastaglia FL, Needham M, Scott A, James I, Zilko P, Day T, Kiers L, Corbett A, Witt CS, Allcock R, Laing N, Garlepp M, Christiansen FT.
    Journal: Neuromuscul Disord; 2009 Nov; 19(11):763-5. PubMed ID: 19720533.
    Abstract:
    Susceptibility to sIBM is strongly associated with the HLA-DRB1*03 allele and the 8.1 MHC ancestral haplotype (HLA-A1, B8, DRB1*03) but little is known about the effects of allelic interactions at the DRB1 locus or disease-modifying effects of HLA alleles. HLA-A, B and DRB1 genotyping was performed in 80 Australian sIBM cases and the frequencies of different alleles and allele combinations were compared with those in a group of 190 healthy controls. Genotype-phenotype correlations were also investigated. Amongst carriers of the HLA-DRB1*03 allele, DRB1*03/*01 heterozygotes were over-represented in the sIBM group (p<0.003) while. DRB1*03/*04 heterozygotes were under-represented (p<0.008). The mean age-at-onset (AAO) was 6.5 years earlier in DRB1*03/*01 heterozygotes who also had more severe quadriceps muscle weakness than the rest of the cohort. The findings indicate that interactions between the HLA-DRB1*03 allele and other alleles at the DRB1 locus can influence disease susceptibility and the clinical phenotype in sIBM.
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