Autoinflammatory & rare systemic diseases
An association study suggests that PTPN22 and TNFAIP3, but not STAT4, are risk factors for IgG4-related disease
Authors' conclusion
Our study identifies the PTPN22 rs2476601C/T and TNFAIP3 rs2230926T/G variants as genetic susceptibility factors for IgG4-RD in the Mexican Mestizo population.
Study context
- Population
- Patients with a diagnosis of IgG4-related disease and sex-matched healthy controls60 patients with IgG4-related disease (IgG4-RD) and 116 healthy controls
- Participants
- 60 vs 116
- Comparison
- Allelic and genotypic frequencies of PTPN22, TNFAIP3 and STAT4 variants between cases and controls
- IgG4-RDn = 60
- Healthy controlsn = 116
- Outcome
- STAT4 rs7574865G/T allelic and genotypic frequencies
Methodological detailssex-matched healthy controls (two per patient), TaqMan® genotyping, SNPStats analyses, multifactor dimensionality reduction approach for gene-gene interactions
- Sex-matched healthy controls (two per patient)
- TaqMan® genotyping
- SNPStats analyses
- Multifactor dimensionality reduction approach for gene-gene interactions
Main finding
As reported in the abstract
- No statistically significant differences between cases and controls
Further findings
| Outcome | Estimate | P value | |
|---|---|---|---|
| PTPN22 rs2476601C/T association with IgG4-RDCvs T | OR (allelic model) 10.2 (95% CI 1.18–88.52) | P = 0.009 | |
| PTPN22 rs2476601C/T association with IgG4-RDCCvs CT | OR (codominant model) 10.6 (95% CI 1.21–93.37) | P = 0.009 | |
| PTPN22 rs2476601C/T association with IgG4-RDCCvs CT+TT | OR (dominant model) 10.6 (95% CI 1.21–93.37) | P = 0.009 | |
| TNFAIP3 rs2230926T/G association with IgG4-RDTvs G | OR 2.75 (95% CI 0.99–7.60) | P = 0.04 | |
| TNFAIP3 rs2230926T/G association with IgG4-RDTTvs TG | OR 2.92 (95% CI 1.03–8.3) | P = 0.037 | |
| TNFAIP3 rs2230926T/G association with IgG4-RDTTvs TG+GG | OR 2.92 (95% CI 1.03–8.3) | P = 0.037 | |
| 0.050.21520Ratio (log scale) |
Original publication
An association study suggests that PTPN22 and TNFAIP3, but not STAT4, are risk factors for IgG4-related disease. Clin Exp Rheumatol. Published 7 March 2026. doi:10.
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