Association of serum PYCARD and NLRP3 inflammasome gene polymorphism with rheumatoid arthritis and disease activity | ||
Egyptian Journal of Medical Microbiology | ||
Articles in Press, Accepted Manuscript, Available Online from 04 October 2025 | ||
Document Type: New and original researches in the field of Microbiology. | ||
DOI: 10.21608/ejmm.2025.426511.1887 | ||
Authors | ||
El-Sayed M. Abd-Elghany1; Taghrid G. Kharboush* 1; Noha M. Abdelnaser2; Yara E. Samy1; Riham N. Ragab1 | ||
1Department of Medical Microbiology and Immunology, Faculty of Medicine, Benha University, Egypt | ||
2Department of Rheumatology, Physical Medicine and Rehabilitation, Faculty of Medicine, Benha University, Egypt | ||
Abstract | ||
Background: Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by joint inflammation, cartilage destruction, and disability. Activation of the nucleotide-binding leucine-rich repeat receptor (NLR) family pyrin domain-containing 3 (NLRP3) inflammasome and its adaptor protein PYCARD (ASC) plays a crucial role in pathogenesis by promoting the release of interleukin-1β and IL-18, and pyroptotic cell death. Genetic variations such as the NLRP3 rs4612666 single-nucleotide polymorphism (SNP) may influence the activity and susceptibility to RA. Understanding the interplay between serum PYCARD levels and NLRP3 gene polymorphisms could provide insights into RA prognosis. Aim: This study aimed to investigate the association between serum PYCARD levels and NLRP3 rs4612666 polymorphism with RA susceptibility and disease activity. Methodology: This comparative cross-sectional study included 21 RA patients and 21 age- and sex-matched healthy controls. Serum PYCARD levels were quantified using Enzyme-Linked Immunosorbent Assay. Genotyping of the NLRP3 rs4612666 polymorphism was performed using Polymerase Chain Reaction and restriction fragment length polymorphism analysis. Results: Serum PYCARD levels were significantly higher in RA patients compared to controls and positively correlated with disease activity and inflammatory markers. The NLRP3 rs4612666 CC genotype was associated with increased RA susceptibility and higher disease activity scores, while the TT genotype appeared protective. Multivariate analysis revealed that serum PYCARD and the CC genotype are potential predictors of RA and its activity. Conclusion: Elevated serum PYCARD and NLRP3 rs4612666 SNP are strongly associated with RA susceptibility and disease activity. These markers may serve as tools for early diagnosis, prognosis, and personalized therapy in RA. | ||
Keywords | ||
Rheumatoid arthritis; PYCARD; NLRP3 inflammasome; rs4612666; polymorphism | ||
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