Alleles of the IL12B 3'UTR associate with late onset of type 1 diabetes

Hum Immunol. 2004 Dec;65(12):1432-6. doi: 10.1016/j.humimm.2004.09.001.

Abstract

Carriage of a polymorphism in the 3'untranslated region of the IL12B gene encoding IL-12p40 was investigated in subjects with type 1 diabetes mellitus stratified by age at diagnosis (n = 648) and compared with a population-based control cohort (n = 246) residing in Western Australia. DNA samples were genotyped by polymerase chain reaction-restriction fragment length polymorphism or pyrosequencing. The C allele was more common in patients diagnosed after age 16 years than in controls (29% vs 17%, OR = 2.0, 95% CI = 1.4-2.7, p = 0.00003) or than in patients diagnosed when younger age 16 years (29% vs 22%, OR = 1.4, 95% CI = 1.1-1.9, p = 0.01). This reflected increases in homozygous and heterozygous carriage of the C allele. Heterozygosity was associated with a delayed disease in the late-onset diabetics (p = 0.005; Student's t-test). The effects of IL12B 3'untranslated region alleles on type 1 diabetes mellitus may reflect different levels of p40 available to form p40 homodimer, IL-12 (p35p40), and IL-23 (p19p40).

MeSH terms

  • 3' Untranslated Regions
  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Alleles
  • Base Sequence
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA, Complementary / genetics
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology*
  • Gene Frequency
  • Genotype
  • Humans
  • Infant
  • Interleukin-12 / genetics*
  • Interleukin-12 Subunit p40
  • Middle Aged
  • Polymorphism, Genetic
  • Protein Subunits / genetics*
  • Western Australia

Substances

  • 3' Untranslated Regions
  • DNA, Complementary
  • Interleukin-12 Subunit p40
  • Protein Subunits
  • Interleukin-12