Aug 2026· International Journal of Advanced Research· 0 citations
TL;DR
The aim of this study was to asses the association of PTPN22 rs2476601 with RA risk and SBL, and to show whether data in the Tunisian population are inconsistent.
Abstract
Introduction: PTPN22 is a powerful inhibitor of signaling cascades initiated in various immune cells. The association between the PTPN22 variant rs2476601 and rheumatoid arthritis (RA) varies by ethnicity. PTPN22 rs2476601 exhibits the strongest non-HLA association with RA in Caucasians. However, data in the Tunisian population are inconsistent. Among patients with RA, PTPN22 rs2476601 has been shown to be associated with bone erosion and autoantibodies. However, no association with systemic bone loss (SBL) has been investigated so far. The aim of this study was to assessthe association of PTPN22 rs2476601 with RA risk and SBL. Methods:In this case-control cross-sectional study, PTPN22 rs2476601 was genotyped by PCR- Restriction Fragment Length Polymorphism in 363 Tunisian patients with RA and 217 controls. Bone mineral density was assessed by dual-energy X-ray absorptiometry in 216 RA patients.
The observed associations suggest that PTPN22 polymorphism may contribute to disease heterogeneity and disease course in selected JIA subgroups, particularly in p-JIA.
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The IFNG rs2430561 A allele is associated with earlier onset and more severe cutaneous and systemic disease in Vietnamese LE patients, highlighting the potential contribution of IFN-γ pathway variation to disease expression.
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