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Genetic architecture of idiopathic inflammatory myopathies from meta‐analyses

Catherine Zhu, Younghun Han, Jinyoung Byun, Xiangjun Xiao, Simon Rothwell, Frederick W. Miller, Ingrid E. Lundberg, Peter K. Gregersen, Jiri Vencovsky, Vikram R. Shaw, et al.
(2025) ARTHRITIS & RHEUMATOLOGY. 77(6). p.750-764
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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.
Keywords
GENOME, ASSOCIATION, HAPLOTYPE, MYOSITIS, RISK

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MLA
Zhu, Catherine, et al. “Genetic Architecture of Idiopathic Inflammatory Myopathies from Meta‐analyses.” ARTHRITIS & RHEUMATOLOGY, vol. 77, no. 6, 2025, pp. 750–64, doi:10.1002/art.43088.
APA
Zhu, C., Han, Y., Byun, J., Xiao, X., Rothwell, S., Miller, F. W., … for the Myositis Genetics Consortium, [missing]. (2025). Genetic architecture of idiopathic inflammatory myopathies from meta‐analyses. ARTHRITIS & RHEUMATOLOGY, 77(6), 750–764. https://doi.org/10.1002/art.43088
Chicago author-date
Zhu, Catherine, Younghun Han, Jinyoung Byun, Xiangjun Xiao, Simon Rothwell, Frederick W. Miller, Ingrid E. Lundberg, et al. 2025. “Genetic Architecture of Idiopathic Inflammatory Myopathies from Meta‐analyses.” ARTHRITIS & RHEUMATOLOGY 77 (6): 750–64. https://doi.org/10.1002/art.43088.
Chicago author-date (all authors)
Zhu, Catherine, Younghun Han, Jinyoung Byun, Xiangjun Xiao, Simon Rothwell, Frederick W. Miller, Ingrid E. Lundberg, Peter K. Gregersen, Jiri Vencovsky, Vikram R. Shaw, Neil McHugh, Vidya Limaye, Albert Selva‐O’Callaghan, Michael G. Hanna, Pedro M. Machado, Lauren M. Pachman, Ann M. Reed, Lisa G. Rider, Øyvind Molberg, Olivier Benveniste, Timothy Radstake, Andrea Doria, Jan De Bleecker, Boel De Paepe, Britta Maurer, William E. Ollier, Leonid Padyukov, Lucy R. Wedderburn, Hector Chinoy, Janine A. Lamb, Christopher I. Amos, and [missing] for the Myositis Genetics Consortium. 2025. “Genetic Architecture of Idiopathic Inflammatory Myopathies from Meta‐analyses.” ARTHRITIS & RHEUMATOLOGY 77 (6): 750–764. doi:10.1002/art.43088.
Vancouver
1.
Zhu C, Han Y, Byun J, Xiao X, Rothwell S, Miller FW, et al. Genetic architecture of idiopathic inflammatory myopathies from meta‐analyses. ARTHRITIS & RHEUMATOLOGY. 2025;77(6):750–64.
IEEE
[1]
C. Zhu et al., “Genetic architecture of idiopathic inflammatory myopathies from meta‐analyses,” ARTHRITIS & RHEUMATOLOGY, vol. 77, no. 6, pp. 750–764, 2025.
@article{01JXEV853X29M6REAYP772KA0T,
  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.}},
  author       = {{Zhu, Catherine and Han, Younghun and Byun, Jinyoung and Xiao, Xiangjun and Rothwell, Simon and Miller, Frederick W. and Lundberg, Ingrid E. and Gregersen, Peter K. and Vencovsky, Jiri and Shaw, Vikram R. and McHugh, Neil and Limaye, Vidya and Selva‐O'Callaghan, Albert and Hanna, Michael G. and Machado, Pedro M. and Pachman, Lauren M. and Reed, Ann M. and Rider, Lisa G. and Molberg, Øyvind and Benveniste, Olivier and Radstake, Timothy and Doria, Andrea and De Bleecker, Jan and De Paepe, Boel and Maurer, Britta and Ollier, William E. and Padyukov, Leonid and Wedderburn, Lucy R. and Chinoy, Hector and Lamb, Janine A. and Amos, Christopher I. and for the Myositis Genetics Consortium, [missing]}},
  issn         = {{2326-5191}},
  journal      = {{ARTHRITIS & RHEUMATOLOGY}},
  keywords     = {{GENOME,ASSOCIATION,HAPLOTYPE,MYOSITIS,RISK}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{750--764}},
  title        = {{Genetic architecture of idiopathic inflammatory myopathies from meta‐analyses}},
  url          = {{http://doi.org/10.1002/art.43088}},
  volume       = {{77}},
  year         = {{2025}},
}
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