Association study between interleukin-12 receptor beta1/beta2 genes and type 1 diabetes or asthma in the Japanese population

Immunogenetics. 2003 Jun;55(3):189-192. doi: 10.1007/s00251-003-0568-7. Epub 2003 Apr 26.

Abstract

Interleukin-12 (IL-12) secreted from macrophages or dendritic cells plays an important role in the protection against intracellular pathogens as well as the developmental commitment of T helper 1 cells. IL-12 exerts its biological effects through binding to specific IL-12 receptors (IL-12Rs) termed IL-12Rbeta1 and IL 12Rbeta2. In this paper, we performed association studies between the three reported polymorphisms (Q214R, M365T and G378R) of the IL-12Rbeta1 gene or the newly identified polymorphisms (P238L, IVS9 -7G>A, IVS13 -121G>A, A643T, P779P and c.3283T>G) of the IL-12Rbeta2 gene, and the development of type 1 diabetes or atopic asthma as representative Th1- and Th2- dominant diseases, respectively. The association study of each polymorphism of the IL-12Rbeta1 or IL-12Rbeta2 gene and type 1 diabetes or asthma showed that these IL-12R genes did not contribute to the development of type 1 diabetes or asthma in the Japanese population. Further analysis in individuals with susceptibility to intracellular pathogens may elucidate the importance of the IL-12R genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Asthma / etiology
  • Asthma / genetics*
  • Child
  • Child, Preschool
  • Diabetes Mellitus, Type 1 / etiology
  • Diabetes Mellitus, Type 1 / genetics*
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Infant, Newborn
  • Interferon-gamma / metabolism
  • Japan
  • Polymorphism, Single Nucleotide
  • Receptors, Interleukin / genetics*
  • Receptors, Interleukin / metabolism
  • Receptors, Interleukin-12

Substances

  • IL12RB1 protein, human
  • IL12RB2 protein, human
  • Receptors, Interleukin
  • Receptors, Interleukin-12
  • Interferon-gamma