CTLA-4 exon 1 +49A/G polymorphism is associated with renal involvement in pediatric Henoch–Schönlein purpura

Abstract

Henoch-Schönlein purpura (HSP) is a multisystemic vasculitis of unknown etiology. Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) and CD28 have been reported to be important candidate genes for conferring susceptibility to autoimmunity. In this study, we investigated the correlation of CTLA-4 and CD28 gene polymorphisms with HSP in children with and without renal involvement. The CTLA-4 exon 1 +49A/G, promoter -318C/T and CD28 IVS3 +17T/C single nucleotide polymorphisms (SNPs) were genotyped in 110 children with HSP and 90 ethnically matched healthy controls through restriction fragment-length polymorphism (RFLP). The CTLA-4 (+49) GG genotype and G allele (GG + AG genotype) were more common in HSP patients with renal involvement (n = 52) than in HSP patients without renal involvement (n = 58) (P = 0.019 and 0.001, respectively). There were no significant differences in the prevalence of CTLA-4 (+49 A/G), (-318C/T) and CD28 IVS3 (+17 /T/C) polymorphisms between HSP patients and controls. Our findings suggest that the CTLA-4 +49 GG genotype and G allele may contribute to increased risk for the development of renal damage in HSP patients.