SynthesisArthritis & rheumatology (Hoboken, N.J.)2025
Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses.
Synthesis in Arthritis & rheumatology (Hoboken, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
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Who cites it
9 citing papers in PubMed.
- Juvenile Myositis: Insights on Classification, Pathogenesis, and Therapies Over the Past 50 Years.Arthritis care & research · 2026Review
- Identification of genetic variants associated with idiopathic inflammatory myopathies via cross-trait analysis with B cell lymphomas.HGG advances · 2026Article
- Refining Human Phenotype Ontology (HPO) to enable better phenotype-genotype integration in systemic autoimmune rheumatic diseases.Orphanet journal of rare diseases · 2026Article
- Article
- Review
- Energy metabolism dysregulation in idiopathic inflammatory myopathies: mechanisms and therapeutic implications.Frontiers in immunology · 2026Review
- HLA loci heterozygosity modulates genetic risk in idiopathic inflammatory myopathies.Annals of the rheumatic diseases · 2025Article
- Article
- Genetics of myositis - distinct backgrounds of subtypes.Journal of human genetics · 2025Review
Corrections and comments
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Authors and funding
32 authors.
Funding
Abstract
objectiveIdiopathic inflammatory myopathies (IIMs, myositis) are rare systemic autoimmune disorders that lead to muscle inflammation, weakness, and extramuscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis data set to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
methodsWe performed association analyses on 14,903 individuals (3,206 patients and 11,697 controls) with genotypes and imputed data from the Trans-Omics for Precision Medicine reference panel. Fine-mapping and expression quantitative trait locus colocalization analyses in myositis-relevant tissues indicated potential causal variants. Functional annotation and network analyses using the random walk with restart (RWR) algorithm explored underlying genetic networks and drug repurposing opportunities.
resultsOur analyses identified novel risk loci and susceptibility genes, such as FCRLA, NFKB1, IRF4, DCAKD, and ATXN2 in overall IIMs; NEMP2 in polymyositis; ACBC11 in dermatomyositis; and PSD3 in myositis with anti-histidyl-transfer RNA synthetase autoantibodies (anti-Jo-1). We also characterized effects of HLA region variants and the role of C4. Colocalization analyses suggested putative causal variants in DCAKD in skin and muscle, HCP5 in lung, and IRF4 in Epstein-Barr virus (EBV)-transformed lymphocytes, lung, and whole blood. RWR further prioritized additional candidate genes, including APP, CD74, CIITA, NR1H4, and TXNIP, for future investigation.
conclusionOur study uncovers novel genetic regions contributing to IIMs, advancing our understanding of myositis pathogenesis and offering new insights for future research.
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