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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.
Declaration of Interest:
The authors declare no competing financial interests.
This work was supported by the São Paulo Research foundation (FAPESP) (09/53575-5) and by the Brazilian Ministry of Science, Technology and Innovation/CNPq (APQ).
A.P. is recipient of a fellowship grant from Pernambuco Research foundation (FACEPE) (BFP-0046-2.02/11). S.C. is recipient of a grant from the TALENTS Programme (7th R&D Framework Programme, Specific Programme: PEOPLE – Marie Curie Actions – COFUND). The authors are responsible for the content and the writing of this article.