title: Polimorphisms in inflammasome genes are involved in the predisposition to systemic lupus erythematosus.
abstract: Recent findings provide evidence of inflammasome critical role in the predisposition to autoimmune disorders. The involvement of inflammasome in the pathogenesis of systemic lupus erythematosus (SLE) has been hypothesized even if no significant association within inflammasome genes mutations or polymorphisms and lupus has been reported yet. We analyzed 14 single nucleotide polymorphisms (SNPs) within 7 inflammasome genes (NLRP1, NLRP3, NLRC4, AIM2, CARD8, CASP1, IL1B) in 144 patients affected by systemic lupus erythematosus and in 158 healthy controls from Southern Brazilian (state of São Paulo) with the aim of disclosing the possible role of inflammasome genes in the susceptibility of SLE. Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype were associated with SLE in our study population, and in particular with the development of nephritis, rash and arthritis. These findings are concordant with previously reported association of NLRP1 with vitiligo and type-1 diabetes underlining once more the involvement of NALP1 inflammasome in the pathogenesis of autoimmune disorders.
authors.affiliation: Laboratory of Medical Investigation in Dermatology and Immunodeficiency, LIM-56, Faculty of Medicine, University of Sao Paulo, Sao Paulo, Brazil. pontillo.a@gmail.com
authors.forename: Alessandra
authors.initials: A
authors.lastname: Pontillo
authors.forename: Martina
authors.initials: M
authors.lastname: Girardelli
authors.forename: Anselmo J
authors.initials: AJ
authors.lastname: Kamada
authors.forename: Joao A T
authors.initials: JA
authors.lastname: Pancotto
authors.forename: Eduardo A
authors.initials: EA
authors.lastname: Donadi
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
authors.forename: Paula
authors.initials: P
authors.lastname: Sandrin-Garcia
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D000483:Alleles; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D001938:Brazil; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D058847:Inflammasomes / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D000070576:NLR Proteins; D020641:Polymorphism, Single Nucleotide
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D051017:Apoptosis Regulatory Proteins; D058847:Inflammasomes; D000070576:NLR Proteins; C427903:NLRP1 protein, human