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

Pediatr Nephrol. 2012 Nov;27(11):2059-2064. doi: 10.1007/s00467-012-2216-7. Epub 2012 Jun 15.

Abstract

Background: 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.

Methods: 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).

Results: 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.

Conclusions: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age Factors
  • Amplified Fragment Length Polymorphism Analysis
  • CD28 Antigens / genetics
  • CTLA-4 Antigen / genetics*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Exons*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Hematuria / genetics*
  • Hematuria / immunology
  • Hematuria / pathology
  • Humans
  • IgA Vasculitis / complications
  • IgA Vasculitis / genetics*
  • IgA Vasculitis / immunology
  • IgA Vasculitis / pathology
  • Kidney / immunology*
  • Kidney / pathology
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic
  • Risk Factors

Substances

  • CD28 Antigens
  • CTLA-4 Antigen
  • CTLA4 protein, human