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Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies
V. Leclair, AS. Galindo-Feria, S. Rothwell, O. Kryštůfková, SS. Zargar, H. Mann, LP. Diederichsen, H. Andersson, M. Klein, S. Tansley, L. Rönnblom, K. Lindblad-Toh, AC. Syvänen, M. Wahren-Herlenius, JK. Sandling, Dissect Consortium and The...
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články
NLK
Directory of Open Access Journals
od 2014
PubMed Central
od 2014
Open Access Digital Library
od 2014-11-01
Open Access Digital Library
od 2014-01-01
Open Access Digital Library
od 2014-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2014
- MeSH
- alely MeSH
- autoprotilátky * genetika MeSH
- fenotyp MeSH
- genetická predispozice k nemoci MeSH
- haplotypy MeSH
- HLA-DRB1 řetězec genetika MeSH
- lidé MeSH
- myozitida * genetika imunologie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: In patients with idiopathic inflammatory myopathies (IIM), autoantibodies are associated with specific clinical phenotypes suggesting a pathogenic role of adaptive immunity. We explored if autoantibody profiles are associated with specific HLA genetic variants and clinical manifestations in IIM. METHODS: We included 1348 IIM patients and determined the occurrence of 14 myositis-specific or -associated autoantibodies. We used unsupervised cluster analysis to identify autoantibody-defined subgroups and logistic regression to estimate associations with clinical manifestations, HLA-DRB1, HLA-DQA1, HLA-DQB1 alleles, and amino acids imputed from genetic information of HLA class II and I molecules. FINDINGS: We identified eight subgroups with the following dominant autoantibodies: anti-Ro52, -U1RNP, -PM/Scl, -Mi2, -Jo1, -Jo1/Ro52, -TIF1γ or negative for all analysed autoantibodies. Associations with HLA-DRB1∗11, HLA-DRB1∗15, HLA-DQA1∗03, and HLA-DQB1∗03 were present in the anti-U1RNP-dominated subgroup. HLA-DRB1∗03, HLA-DQA1∗05, and HLA-DQB1∗02 alleles were overrepresented in the anti-PM/Scl and anti-Jo1/Ro52-dominated subgroups. HLA-DRB1∗16, HLA-DRB1∗07 alleles were most frequent in anti-Mi2 and HLA-DRB1∗01 and HLA-DRB1∗07 alleles in the anti-TIF1γ subgroup. The HLA-DRB1∗13, HLA-DQA1∗01 and HLA-DQB1∗06 alleles were overrepresented in the negative subgroup. Significant signals from variations in class I molecules were detected in the subgroups dominated by anti-Mi2, anti-Jo1/Ro52, anti-TIF1γ, and the negative subgroup. INTERPRETATION: Distinct HLA class II and I associations were observed for almost all autoantibody-defined subgroups. The associations support autoantibody profiles use for classifying IIM which would likely reflect underlying pathogenic mechanisms better than classifications based on clinical symptoms and/or histopathological features. FUNDING: See a detailed list of funding bodies in the Acknowledgements section at the end of the manuscript.
Broad Institute of MIT and Harvard Cambridge MA Unite States of America
Broegelmann Research Laboratory Department of Clinical Science University of Bergen Norway
Department of Life Sciences University of Bath Bath United Kingdom
Department of Medical Sciences Rheumatology Uppsala University Uppsala Sweden
Department of Rheumatology Odense University Hospital Odense Denmark
Department of Rheumatology Oslo University Hospital Oslo Norway
Division of Rheumatology Jewish General Hospital Lady Davis Institute Montreal Canada
Citace poskytuje Crossref.org
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