Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta‐Analyses
Authors' conclusion
Our study uncovers novel genetic regions contributing to IIMs, advancing our understanding of myositis pathogenesis and offering new insights for future research.
Study context
- Population
- Patients with idiopathic inflammatory myopathies (IIMs) (myositis) and controls, data imputed from two prior genome-wide myositis studies3,206 patients · 11,697 controls
- Participants
- 14,903 patients
- Comparison
- IIM patients vs controls
- Patientsn = 3,206
- Controlsn = 11,697reference
- Outcome
- Novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes
Methodological detailsimputation with TOPMed reference panel, fine-mapping, eQTL colocalization, random walk with restart (RWR) network analysis
- Imputation with TOPMed reference panel
- Fine-mapping
- eQTL colocalization
- RWR network analysis
Pooled result
As reported in the abstract
Novel risk loci and susceptibility genes
- Overall IIMs: FCRLA, NFKB1, IRF4, DCAKD, ATXN2
- PM: NEMP2
- DM: ACBC11
- Anti-Jo-1 myositis: PSD3
- Effects of HLA region variants and the role of C4 characterized
Further pooled results
Colocalization: putative causal variants
- DCAKD in skin and muscle; HCP5 in lung; IRF4 in Epstein-Barr virus (EBV)-transformed lymphocytes, lung and whole blood
RWR-prioritized candidate genes
- APP, CD74, CIITA, NR1H4, TXNIP
Original publication
Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta‐Analyses. Arthritis Rheumatol. Published 13 February 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →