Polimorphisms in Inflammasome Genes Are Involved in the Predisposition to Systemic Lupus Erythematosus

Autor(es)

Pontillo, Alessandra ^{[1, 2]} ; Girardelli, Martina ^[3] ; Kamada, Anselmo J. ^[1] ; Pancotto, Joao A. T. ^[4] ; Donadi, Eduardo A. ^[4] ; Crovella, Sergio ^[1] ; Sandrin-Garcia, Paula ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Pernambuco, Dept Genet, Recife, PE - Brazil

^[2] Univ Sao Paulo, Fac Med, LIM 56, Lab Med Invest Dermatol & Immunodeficiency, BR-05403000 Sao Paulo - Brazil

^[3] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, Trieste - Italy

^[4] Univ Sao Paulo, Div Clin Immunol, Dept Med, Sch Med Ribeirao Preto, BR-14049 Ribeirao Preto, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: AUTOIMMUNITY; v. 45, n. 4, p. 271-278, JUN 2012.
• Citações Web of Science: 87

Resumo

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 Sao 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. (AU)

• Processo FAPESP: 09/53575-5 - Possível papel do inflamasoma na resposta imune ao vírus HIV-1
• Beneficiário: Alberto José da Silva Duarte
• Linha de fomento: Auxílio à Pesquisa - Regular