Association of NLRP3 and CARD8 genetic polymorphisms with juvenile idiopathic arthritis in a Taiwanese population
Autor: | Chin-An Yang, Huang St, Bor-Luen Chiang |
---|---|
Rok vydání: | 2013 |
Předmět: |
musculoskeletal diseases
Male Adolescent Genotype Inflammasomes Immunology Population Interleukin-1beta Taiwan Arthritis Peripheral blood mononuclear cell Polymorphism Single Nucleotide Receptors Tumor Necrosis Factor Etanercept Pathogenesis Rheumatology NLR Family Pyrin Domain-Containing 3 Protein medicine Immunology and Allergy Humans Genetic Predisposition to Disease Allele skin and connective tissue diseases education Child Alleles education.field_of_study business.industry Tumor Necrosis Factor-alpha Homozygote Interleukin-17 Interleukin Inflammasome General Medicine medicine.disease Arthritis Juvenile Neoplasm Proteins CARD Signaling Adaptor Proteins Case-Control Studies Child Preschool Immunoglobulin G Female business Carrier Proteins medicine.drug |
Zdroj: | Scandinavian journal of rheumatology. 43(2) |
ISSN: | 1502-7732 |
Popis: | An elevated interleukin (IL)-1β response in peripheral blood mononuclear cells (PBMCs) has been observed in systemic juvenile idiopathic arthritis (sJIA), suggesting a role for inflammasomes in the pathogenesis of JIA. We aimed to determine whether genetic polymorphisms of the NLRP3 inflammasome components confer risk for oligoarticular and polyarticular JIA in a Taiwanese population.A total of 118 JIA patients and 103 healthy controls were genotyped for rs4353135 OR2B11/NLRP3 and rs2043211 CARD8 polymorphisms. Clinical laboratory data and serum IL-1β of JIA patients were evaluated by medical chart review and enzyme-linked immunosorbent assay (ELISA), respectively. The production of IL-17 in lymphocytes of different genotype carriers was measured using flow cytometry.The variant rs4353135 G allele carrier conferred increased risk for oligoarticular and polyarticular JIA. The G allele was also found to be associated with higher levels of clinical inflammatory markers. Moreover, G variant carriers enhanced the lymphocyte IL-17 response. The G/G genotype further increased the need for treatment with the tumour necrosis factor (TNF) inhibitor etanercept.Our data indicate that the rs4353135 OR2B11/NLRP3 polymorphism might be functional in, and could contribute to, the pathophysiology of oligoarticular and polyarticular JIA in a Taiwanese population. |
Databáze: | OpenAIRE |
Externí odkaz: |