Testing the possible negative association of type 1 diabetes and atopic disease by analysis of the interleukin 4 receptor gene

Genes Immun. 2003 Oct;4(7):469-75. doi: 10.1038/sj.gene.6364007.

Abstract

Variations in the interleukin 4 receptor A (IL4RA) gene have been reported to be associated with atopy, asthma, and allergy, which may occur less frequently in subjects with type 1 diabetes (T1D). Since atopy shows a humoral immune reactivity pattern, and T1D results from a cellular (T lymphocyte) response, we hypothesised that alleles predisposing to atopy could be protective for T1D and transmitted less often than the expected 50% from heterozygous parents to offspring with T1D. We genotyped seven exonic single nucleotide polymorphisms (SNPs) and the -3223 C>T SNP in the putative promoter region of IL4RA in up to 3475 T1D families, including 1244 Finnish T1D families. Only the -3223 C>T SNP showed evidence of negative association (P=0.014). There was some evidence for an interaction between -3233 C>T and the T1D locus IDDM2 in the insulin gene region (P=0.001 in the combined and P=0.02 in the Finnish data set). We, therefore, cannot rule out a genetic effect of IL4RA in T1D, but it is not a major one.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asthma / genetics*
  • Asthma / immunology
  • Chromosomes, Human, Pair 16
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Exons
  • Gene Frequency
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • HLA Antigens / genetics
  • Haplotypes
  • Humans
  • Logistic Models
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Receptors, Interleukin-4 / genetics*
  • White People

Substances

  • HLA Antigens
  • Receptors, Interleukin-4