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.

• Genetic background
• inflammasome
• IL-1β
• juvenile systemic lupus erythematosus
• single nucleotide polymorphisms

Acknowledgments

We are grateful to all patients for their kind participation. The authors acknowledge doctor Adriana A. Jesus for her assistance in patient’s enrolment and Joyce M.A. Reis, Fernanda A. Macaferri Fonseca and Laila Lima for their assistance in separating and preparing the samples.

Declaration of interest

The authors report no conflicts of interest.

Supplementary material available online

Supplementary Files 1-5