Autoinflammatory & rare systemic diseases
Genome-wide association studies reveal new insights into the genetic basis of IgG4-related disease in the Chinese Han population
Authors' conclusion
This study identified multiple susceptibility loci for IgG4-RD, uncovering novel genetic variants closely linked to clinical features and disease prognosis.
Study context
- Population
- Chinese Han population with igG4-related disease (IgG4-RD) and controls1,115 patients, 10,154 controls passed QC
- Participants
- 1,161 vs 10,539
- Comparison
- IgG4-RD patients vs controls
- IgG4-RDn = 1,161
- Controlsn = 10,539reference
- Outcome
- Genetic susceptibility loci for IgG4-RD
Methodological detailscase-control, 2 independent cohorts, human leukocyte antigen (HLA) imputation (Han-MHC reference), fine mapping, meta-analysis with Japanese cohort data
- Case-control
- 2 independent cohorts
- HLA imputation (Han-MHC reference)
- Fine mapping
- Meta-analysis with Japanese cohort data
Pooled result
As reported in the abstract
Genome-wide significant SNPs (P < 5E-08) replicated in both cohorts
Single nucleotide polymorphisms (SNPs) surpassing genome-wide significance and replicated across both cohorts
22
Distinct genetic susceptibility loci
16
Fine mapping: independent HLA alleles
6
Fine mapping: independent amino acid mutations
2
Further pooled results
Association of genetic variants with clinical characteristics
- Variants significantly associated with serum IgG4 levels, extent and pattern of organ involvement, clinical subtypes and relapse risk
Meta-analysis with Japanese cohort data
- Confirmed known loci and revealed novel susceptibility variants
Original publication
Genome-wide association studies reveal new insights into the genetic basis of IgG4-related disease in the Chinese Han population. Ann Rheum Dis. Published 26 November 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →