PADI4 gene and Rheumatoid Arthritis in Aswan : A Case-Control Study

Document Type : Original Article

Authors

1 Department of Rheumatology and Rehabilitation, faculty of medicine, Aswan University

2 Department of Rheumatology and Rehabilitation, faculty of medicine, Assiut University

3 Department of Clinical pathology, faculty of medicine, Aswan University

Abstract

Background: Peptidylarginine deiminase 4 (PADI4) is implicated in rheumatoid arthritis (RA) pathogenesis through citrullination. Polymorphisms in the PADI4 gene have been linked to RA, particularly in Asian populations. However, Its role as a biomarker in Egyptian populations remains under-explored and studies among Egyptian patients have shown weaker or inconsistent associations, underscoring the need for region-specific genetic research.

Methods: This cross-sectional case-control study included 150 RA patients (according to 2010 ACR/EULAR criteria) and 90 matched controls from Aswan, Egypt. Serum PADI4 levels were measured using ELISA, and genomic analyses evaluated PADI4 polymorphisms alongside clinical and laboratory markers laboratory markers like (RF, ACPA, age ,sex, disease duration, Family history, ESR, CRP, DAS28esr, and PGA). Statistical analyses included Mann-Whitney U, Spearman’s correlation, and ROC curve evaluation.

Results: PADI4 levels were significantly higher in controls than in RA patients (Median [IQR]: 0.62 [0.47-0.74] vs. 0.46 [0.36-0.57], p ≤ 0.001). In RA patients, PADI4 correlated with ACPA positivity (p ≤ 0.001) and showed a weak correlation with DAS28-ESR (p = 0.025), but not with RF, sex, or family history. PADI4 had a specificity of 73.3% and sensitivity of 64.4% for RA diagnosis.

Conclusion: Although PADI4 polymorphisms were not associated with RA risk, contrary to the study hypothesis, their correlation with ACPA and disease activity suggests a potential role as a negative diagnostic marker

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Aswan University Medical Journal
Volume 5, Issue 4
December 2025
Pages 157-164

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