title: Inflammasome polymorphisms in juvenile systemic lupus erythematosus.
abstract: Inflammasome is the cytoplasmic complex responsible for pro-IL1 β cleavage and secretion of IL-1β. Recently our group reported the first association between polymorphisms in the inflammasome receptor NLRP1 and adult-onset systemic lupus erythematosus (SLE) "di per se" and especially in SLE-associated renal disease, suggesting the involvement of NLRP1-inflammasome in the immune dysregulation characteristic of SLE patients. Considering that juvenile-onset SLE (JSLE) is more severe than adult SLE, and that the genetic background plays a major role in the early development of autoimmune diseases, we analysed selected polymorphisms in inflammasome genes (NLRP1, NLRP3, CARD8, IL1B, TNFAIP3) of children and adolescents with JSLE (n = 90) and in healthy controls (n = 144). A single polymorphism in IL1B, and not NLRP1, gene resulted in association with JSLE, suggesting that IL-1 β is involved in the pathogenesis of SLE, but different genes could play specific role in adult- or early-onset disease.
authors.affiliation: a Laboratory of Immunogenetics, Department of Immunology , Institute of Biomedical Sciences and.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pontillo
authors.affiliation: a Laboratory of Immunogenetics, Department of Immunology , Institute of Biomedical Sciences and.
authors.forename: Edione C
authors.initials: EC
authors.lastname: Reis
authors.affiliation: b Laboratory of Medical Investigation, Faculty of Medicine , Children Institute, University of São Paulo (USP) , São Paulo , SP , Brazil.
authors.forename: Bernadete L
authors.initials: BL
authors.lastname: Liphaus
authors.affiliation: b Laboratory of Medical Investigation, Faculty of Medicine , Children Institute, University of São Paulo (USP) , São Paulo , SP , Brazil.
authors.forename: Clovis A
authors.initials: CA
authors.lastname: Silva
authors.affiliation: b Laboratory of Medical Investigation, Faculty of Medicine , Children Institute, University of São Paulo (USP) , São Paulo , SP , Brazil.
authors.forename: Magda
authors.initials: M
authors.lastname: Carneiro-Sampaio
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics / Q000276:immunology; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000483:Alleles; D051017:Apoptosis Regulatory Proteins / Q000235:genetics / Q000276:immunology; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics / Q000276:immunology; D002352:Carrier Proteins / Q000235:genetics / Q000276:immunology; D016022:Case-Control Studies; D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics / Q000276:immunology; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D058847:Inflammasomes / Q000235:genetics / Q000276:immunology; D053583:Interleukin-1beta / Q000235:genetics* / Q000276:immunology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000276:immunology; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000070576:NLR Proteins; D009363:Neoplasm Proteins / Q000235:genetics / Q000276:immunology; D009687:Nuclear Proteins / Q000235:genetics / Q000276:immunology; D020641:Polymorphism, Single Nucleotide; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; D053468:CARD Signaling Adaptor Proteins; C455623:CARD8 protein, human; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D058847:Inflammasomes; D053583:Interleukin-1beta; D047908:Intracellular Signaling Peptides and Proteins; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D000070576:NLR Proteins; C427903:NLRP1 protein, human; C453881:NLRP3 protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C076529:TNFAIP3 protein, human; D000072598:Tumor Necrosis Factor alpha-Induced Protein 3
keywords: Genetic background; IL-1β; inflammasome; juvenile systemic lupus erythematosus; single nucleotide polymorphisms