Inflammasome polymorphisms in juvenile systemic lupus erythematosus

Inflammasome is the cytoplasmic complex responsible for pro-IL1 cleavage and secretion of IL-1. 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 is involved in the pathogenesis of SLE, but different genes could play specific role in adult- or early-onset disease.