Full Papers
An association study suggests that PTPN22 and TNFAIP3, but not STAT4, are risk factors for IgG4-related disease
E. Martín-Nares1, G. Hernández-Molina2, J. Ramírez-Bello3
- Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
- Department of Immunology and Rheumatology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
- Subdirección de Investigación Clínica, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico. dr.julian.ramirez.inc@gmail.com
CER19887
Full Papers
Received: 07/03/2026
Accepted : 28/09/2026
In Press: 21/10/2026
Abstract
OBJECTIVES:
To evaluate whether the PTPN22 C1858T (R620W), TNFAIP3 rs2230926T/G (Phe127Cys) and rs6920220G/A, and STAT4 rs7574865G/T variants are risk factors for IgG4-related disease (IgG4-RD).
METHODS:
Patients with a diagnosis of IgG4-RD were included. For each patient, two sex-matched healthy controls were included. Genotyping was performed using TaqMan® assays. Statistical analyses were conducted with SNPStats to assess the association between genetic variants and disease susceptibility. Potential gene-gene interactions were evaluated using the multifactor dimensionality reduction approach.
RESULTS:
We included 60 patients with IgG4-RD and 116 healthy controls. The allelic and genotypic frequencies of the STAT4 rs7574865G/T variant showed no statistically significant differences between cases and controls. In contrast, the PTPN22 rs2476601C/T variant was significantly associated with IgG4-RD under the allelic (C vs. T; OR=10.2, 95% CI 1.18-88.52, p=0.009), codominant (CC vs. CT; OR=10.6, 95% CI 1.21-93.37, p=0.009), and dominant (CC vs. CT+TT; OR=10.6, 95% CI 1.21-93.37, p=0.009) models. Additionally, the TNFAIP3 rs2230926T/G SNV showed the following associations: T vs. G (OR=2.75, 95% CI 0.99-7.60, p=0.04); TT vs TG (OR=2.92, 95% CI 1.03-8.3, p=0.037); and TT vs. TG+GG (OR=2.92, 95% CI 1.03-8.3, p=0.037).
CONCLUSIONS:
Our study identifies the PTPN22 rs2476601C/T and TNFAIP3 rs2230926T/G variants as genetic susceptibility factors for IgG4-RD in the Mexican Mestizo population.
