Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis

Genes Immun. 2010 Mar;11(2):194-8. doi: 10.1038/gene.2009.105. Epub 2010 Jan 14.

Abstract

Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic arthritis (JIA) susceptibility loci, specifically, PTPN22 and IL2RA. Several novel autoimmune susceptibility loci have recently been identified, and we hypothesise that single-nucleotide polymorphisms (SNPs) within these genes may also be JIA susceptibility loci. Five SNPs within the genes AFF3, IL2/IL21, IL7R, CTLA4 and CD226, previously associated with multiple autoimmune diseases were genotyped, in a large data set of Caucasian JIA patients and controls, and tested for association with JIA. We identified two susceptibility loci for JIA, AFF3 and the IL2/IL21 region and additional weak evidence supporting an association with the CTLA4 and IL7R genes, which warrant further investigation. All results require validation in independent JIA data sets. Further characterisation of the specific causal variants will be required before functional studies can be performed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, Differentiation, T-Lymphocyte / genetics
  • Arthritis, Juvenile / genetics*
  • Genotype
  • Humans
  • Immunologic Factors / genetics
  • Immunologic Tests / methods
  • Interleukin-17 / genetics
  • Interleukin-2 / genetics*
  • Interleukin-2 Receptor alpha Subunit / genetics
  • Interleukins / genetics*
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics

Substances

  • AFF3 protein, human
  • Antigens, Differentiation, T-Lymphocyte
  • CD226 antigen
  • Immunologic Factors
  • Interleukin-17
  • Interleukin-2
  • Interleukin-2 Receptor alpha Subunit
  • Interleukins
  • Nuclear Proteins
  • interleukin-21