Logo image
Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype
Journal article   Peer reviewed

Sporadic inclusion body myositis: HLA-DRB1 allele interactions influence disease risk and clinical phenotype

F.L. Mastaglia, M. Needham, A. Scott, I. James, P. Zilko, T. Day, L. Kiers, A. Corbett, C.S. Witt, R. Allcock, …
Neuromuscular Disorders, Vol.19(11), pp.763-765
2009
url
Link to Published Version *Subscription may be requiredView

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.

Details

UN Sustainable Development Goals (SDGs)

This output has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

Source: InCites

Metrics

InCites Highlights

These are selected metrics from InCites Benchmarking & Analytics tool, related to this output

Collaboration types
Domestic collaboration
Citation topics
1 Clinical & Life Sciences
1.106 Rheumatology
1.106.1684 Dermatomyositis
Web Of Science research areas
Clinical Neurology
Neurosciences
ESI research areas
Neuroscience & Behavior
Logo image