PADI4 Gene Polymorphism and Citrullination in Rheumatoid Arthritis: A Review study
Manroop Kaur and *Ginjinder Kaur
Department of Human Genetics, Punjabi University, Patiala - 147002 (India) *Corresponding author : Email ginjinder_hg@pbi.ac.in
ABSTRACT
Rheumatoid Arthritis (RA) is a chronic autoimmune disorder affecting 0.5–1% of the global population, characterized by synovial inflammation and autoantibody (RF, ACPA) production. Genetic factors, especially PADI4 variants, and environmental triggers like smoking increase susceptibility. A literature review was conducted on genetic and environmental factors influencing RA, focusing on PADI4 variants, their role in citrullination and ACPA formation, and the effect of smoking on synovial citrullination. PADI4 variants are overexpressed in RA, promoting citrullination, ACPA production, and resistance to apoptosis in synovial fibroblasts by inhibiting p53 and p21, leading to synovial hyperplasia