ArticleGenes and immunity2015
Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.
Article in Genes and immunity, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 78 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Studies in the Natural History and Pathogenesis of Childhood-Onset and Adult-Onset Idiopathic Inflammatory Myopathies
Studies of the Natural History and Pathogenesis of Autoimmune/Connective Tissue Diseases
Who cites it
78 citing papers in PubMed, 3 syntheses or guidelines pooled it, 132 citations in OpenAlex.
- Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses.Arthritis & rheumatology (Hoboken, N.J.) · 2025Pooled it
- Genetics of idiopathic inflammatory myopathies: insights into disease pathogenesis.Current opinion in rheumatology · 2019Pooled it
- Genome-wide meta-analysis reveals shared newAnnals of the rheumatic diseases · 2019Pooled it
- Juvenile Myositis: Insights on Classification, Pathogenesis, and Therapies Over the Past 50 Years.Arthritis care & research · 2026Review
- Article
- Review
- Distinct by Design: Unraveling the Unique Clinical and Transcriptomic Identity of Juvenile Scleromyositis Overlap Compared to Juvenile Systemic Sclerosis and Juvenile Dermatomyositis: Implications for Care and Pathogenesis.ACR open rheumatology · 2026Article
- Association betweenFrontiers in immunology · 2026Article
- HLA-AJournal of immunology research · 2026Article
- Independent and joint effects of lifestyle, human leukocyte antigen polymorphisms on cancer risk: findings from the UK Biobank.Frontiers in immunology · 2026Article
- HLA loci heterozygosity modulates genetic risk in idiopathic inflammatory myopathies.Annals of the rheumatic diseases · 2025Article
- HLA-A*01:01-B*08:01-C*07:01 is linked to early-onset immune checkpoint inhibitor-induced myositis and myocarditis.Journal for immunotherapy of cancer · 2025Article
- Article
- Genetics of myositis - distinct backgrounds of subtypes.Journal of human genetics · 2025Review
- An update on the pathogenesis of idiopathic inflammatory myopathies.Current opinion in rheumatology · 2025Review
- Idiopathic Inflammatory Myopathies: Recent Evidence Linking Pathogenesis and Clinical Features.International journal of molecular sciences · 2025Review
- Idiopathic Inflammatory Myopathies-Associated Interstitial Lung Disease in Adults.Tuberculosis and respiratory diseases · 2025Article
- A possible role for immunogenetic factors in myositis developing after vaccination in the pre-covid-19 era.Frontiers in immunology · 2025Article
- Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms.Immunogenetics · 2024Article
- Recent Updates on the Pathogenesis of Inflammatory Myopathies.Current rheumatology reports · 2024Review
18 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors at 17 institutions in 7 countries.
Funding
Abstract
Autoimmune muscle diseases (myositis) comprise a group of complex phenotypes influenced by genetic and environmental factors. To identify genetic risk factors in patients of European ancestry, we conducted a genome-wide association study (GWAS) of the major myositis phenotypes in a total of 1710 cases, which included 705 adult dermatomyositis, 473 juvenile dermatomyositis, 532 polymyositis and 202 adult dermatomyositis, juvenile dermatomyositis or polymyositis patients with anti-histidyl-tRNA synthetase (anti-Jo-1) autoantibodies, and compared them with 4724 controls. Single-nucleotide polymorphisms showing strong associations (P<5×10(-8)) in GWAS were identified in the major histocompatibility complex (MHC) region for all myositis phenotypes together, as well as for the four clinical and autoantibody phenotypes studied separately. Imputation and regression analyses found that alleles comprising the human leukocyte antigen (HLA) 8.1 ancestral haplotype (AH8.1) defined essentially all the genetic risk in the phenotypes studied. Although the HLA DRB1*03:01 allele showed slightly stronger associations with adult and juvenile dermatomyositis, and HLA B*08:01 with polymyositis and anti-Jo-1 autoantibody-positive myositis, multiple alleles of AH8.1 were required for the full risk effects. Our findings establish that alleles of the AH8.1 comprise the primary genetic risk factors associated with the major myositis phenotypes in geographically diverse Caucasian populations.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.