A polymorphism within interleukin-21 receptor (IL21R) confers risk for systemic lupus erythematosus and is associated with malar rash in lupus patients (49.17)

Abstract

Abstract Interleukin (IL) 21 is a member of the type I cytokine superfamily that exerts a variety of effects on the immune system including B cell activation, plasma cell differentiation, and immunoglobulin production. The IL21 receptor (IL21R) is expressed on B cells, T cells, NK cells, and monocyte-derived dendritic cells. The expression of IL21R is reduced in B cells from lupus patients, while IL21 serum levels are increased in both lupus patients and some lupus-murine models. We recently reported that polymorphisms within the IL21 gene are associated with increased susceptibility to lupus. Herein, we genotyped SNPs in the IL21R gene located on chromosome 16p11. We identify and confirm the association between rs3093301 and lupus in two independent European-derived and Hispanic cohorts (p=7.2X10-5). In addition, the presence of the homozygous risk genotype in rs3093301 (A/A) was associated with the development of malar rash in the European-derived female lupus patients (OR=2.83, 95% CI=1.56-5.13, p=0.00045).