Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Association of Nlrp3 Single Nucleotide Polymorphisms With Juvenile Idiopathic Arthritis: A Case–Control Study Publisher Pubmed



Khanmohammadi S1, 2 ; Habibzadeh A3 ; Fallahtafti P3, 4 ; Rezaei A1 ; Sadr M1 ; Ziaee V5, 6, 7 ; Rezaei N1, 2, 8
Authors
Show Affiliations
Authors Affiliations
  1. 1. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, 62 Qarib St., Keshavarz Blvd., Tehran, 14194, Iran
  2. 2. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  3. 3. School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Tehran Heart Center, Cardiovascular Diseases Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Children’s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
  6. 6. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
  7. 7. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: Clinical Rheumatology Published:2025


Abstract

Background: Although juvenile idiopathic arthritis (JIA) is one of the most common pediatric rheumatologic diseases, the exact etiology of JIA remains unclear. Genetic factors, including variations in the NLRP3 gene, have been implicated in the pathogenesis of autoimmune diseases. Therefore, we aimed to investigate the association between NLRP3 polymorphisms and JIA. Material and Method: We conducted a case–control study involving 51 JIA patients and 56 healthy controls from the Children’s Medical Center Hospital. Genotyping of four NLRP3 single nucleotide polymorphisms (SNPs) (rs10754558, rs3806265, rs4612666, and rs35829419) was performed using real-time polymerase chain reaction (PCR). Statistical analysis was conducted to compare allele and genotype frequencies between cases and controls. Additionally, haplotype analysis and evaluation of information interaction between SNPs were performed. Results: Allele and genotype frequencies of the investigated NLRP3 SNPs did not show significant differences between JIA cases and healthy controls. However, a notable difference in information interaction was observed at the rs4612666/rs3806265 SNPs (p-value = 0.000426). The CCCT haplotype was associated with increased odds of JIA with an odds ratio (OR) of 2.166 (95%CI:1.156–4.06), and contrariwise, the TCGT haplotype was associated with lower odds of JIA with an OR of 0.166 (95%CI:0.036–0.763). Results: The NLRP3 gene could be involved in the pathogenesis of JIA. Further research with larger cohorts and functional studies is warranted to confirm these findings and elucidate the underlying biological mechanisms. (Table presented.) © The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR) 2024.
Related Docs
View other Related Docs
1. Study of Nlrp3 Single Nucleotide Polymorphisms in Juvenile Systemic Lupus Erythematosus (Jsle), Immunological Investigations (2023)
2. Association of Ptpn22 Gene Polymorphisms With Susceptibility to Juvenile Idiopathic Arthritis in Iranian Population, Fetal and Pediatric Pathology (2017)
3. Investigating the Possible Association Between Nlrp3 Gene Polymorphisms and Myasthenia Gravis, Muscle and Nerve (2021)
4. Targeting Nlrp3 Inflammasomes: A Trojan Horse Strategy for Intervention in Neurological Disorders, Molecular Neurobiology (2025)
5. Lack of Association Between Stat4 Single Nucleotide Polymorphisms and Iranian Juvenile Rheumatoid Arthritis Patients, Fetal and Pediatric Pathology (2017)
6. Irf6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate, Journal of Dental Research (2015)
7. Nlrp3 Gene Polymorphisms in Iranian Patients With Recurrent Aphthous Stomatitis, Journal of Oral Pathology and Medicine (2016)
8. Potential Roles of Nlrp3 Inflammasome in the Pathogenesis of Kawasaki Disease, Journal of Cellular Physiology (2023)
Experts (# of related papers)
View all Related Experts
Nima Rezaei (13)
Mahdi Mahmoudi (8)
Other Related Docs
9. Association of Nod-Like Receptor Protein-3 Single Nucleotide Gene Polymorphisms and Expression With the Susceptibility to Relapsing–Remitting Multiple Sclerosis, International Journal of Immunogenetics (2018)
10. Pdcd1 Single Nucleotide Polymorphisms in Iranian Patients With Juvenile Idiopathic Arthritis, Acta Medica Iranica (2017)
11. Il-1A Rs1800587, Il-1B Rs1143634 and Il-1R1 Rs2234650 Polymorphisms in Iranian Patients With Systemic Sclerosis, International Journal of Immunogenetics (2015)
12. Nlrp3 Inflammasomes Pathway: A Key Target for Metformin, Inflammopharmacology (2025)
13. Methyl-Cpg-Binding Protein 2 (Mecp2) Polymorphism in Iranian Patients With Systemic Lupus Erythematosus, Inflammation (2015)
14. Association Between Two Common Polymorphisms of Vitamin D Binding Protein and the Risk of Coronary Artery Disease: A Case-Control Study, Journal of Medical Biochemistry (2017)
15. Single Nucleotide Polymorphism of Methyl-Cpg-Binding Protein 2 Gene Associates With Juvenile Idiopathic Arthritis, Clinical Rheumatology (2018)
16. Nlrp3 Inflammasome: Significance and Potential Therapeutic Targets to Advance Solid Organ Transplantation, Expert Opinion on Therapeutic Targets (2025)
17. Pdcd1 Single Nucleotide Genes Polymorphisms Confer Susceptibility to Juvenile-Onset Systemic Lupus Erythematosus, Autoimmunity (2015)
18. Potential Roles of Inflammasomes in the Pathophysiology of Psoriasis: A Comprehensive Review, Molecular Immunology (2023)
19. Connecting the Dots: Nlrp3 Inflammasome As a Key Mediator in the Intersection of Depression and Cardiovascular Disease – a Narrative Review, Heart and Mind (2025)
20. Non-Coding Rnas Affecting Nlrp3 Inflammasome Pathway in Diabetic Cardiomyopathy: A Comprehensive Review of Potential Therapeutic Options, Journal of Translational Medicine (2025)
21. Nlrp3 and Il-1Β Gene Expression Is Elevated in Monocytes From Hiv-Treated Patients With Neurocognitive Disorders, Journal of Acquired Immune Deficiency Syndromes (2021)
22. Analysis of the Association Between Mdm4 Rs4245739 Single Nucleotide Polymorphism and Breast Cancer Susceptibility, Clinical Laboratory (2016)
23. Development of a Bio-Inspired Phagocytic Stable Nanoghost With Anti-Inflammatory Properties for Management of Inflammation in Ulcerative Colitis, Journal of Drug Targeting (2025)
24. Association of Nlrp3 Single Nucleotide Polymorphisms With Ulcerative Colitis: A Case-Control Study, Clinics and Research in Hepatology and Gastroenterology (2018)
25. Mesenchymal Stem Cells (Mscs) and Msc-Derived Exosomes in Animal Models of Central Nervous System Diseases: Targeting the Nlrp3 Inflammasome, IUBMB Life (2023)
26. All-Trans Retinoic Acid–Preconditioned Mesenchymal Stem Cells Improve Motor Function and Alleviate Tissue Damage After Spinal Cord Injury by Inhibition of Hmgb1/Nf-Κb/Nlrp3 Pathway Through Autophagy Activation, Journal of Molecular Neuroscience (2022)
27. Association Study of Single Nucleotide Polymorphisms of Endoplasmic Reticulum Aminopeptidase 1 and 2 Genes in Iranian Women With Preeclampsia, Iranian Journal of Public Health (2019)
28. An Interleukin 12 B Single Nucleotide Polymorphism Increases Il-12P40 Production and Is Associated With Increased Disease Susceptibility in Patients With Relapsing-Remitting Multiple Sclerosis, Neurological Research (2017)