Association studies of the IL-23R gene in autoimmune thyroid disease in the Japanese population

Autoimmunity. 2009 Feb;42(2):126-30. doi: 10.1080/08916930802422265.


Autoimmune thyroid diseases (AITDs), including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are caused by interplays of genetic factors and environmental triggers. Interleukin-23 and its receptor (IL-23R) guide T cells towards the Th17 phenotype. IL-23R single nucleotide polymorphisms (SNPs) have been shown to be associated with several autoimmune diseases, including Crohn's disease and rheumatoid arthritis, and Graves' ophthalmopathy (GO) in Caucasians. To determine whether variants in the IL-23R gene are associated with AITDs in Japanese, 464 Japanese AITD patients (290 with GD, 174 with HT) and 179 matched Japanese control subjects were genotyped for four SNPs spanning the IL-23R gene. SNPs rs11209026 and rs7530511 were genotyped using TaqMan allelic discrimination assays and SNPs rs2201841 and rs10889677 were genotyped using a fluorescent-based restriction fragment length polymorphism method. Case-control association studies were performed using the chi(2) and Fisher's exact tests with Yates correction. Of the four SNPs rs11209026 was non-polymorphic in our dataset. The other three SNPs were not associated with GD or GO or HT in our Japanese population. These results suggest that the IL-23R gene is associated with AITDs only in a specific ethnic group.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asians / genetics
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Genetics, Population
  • Genotype
  • Graves Disease / genetics
  • Graves Ophthalmopathy / genetics
  • Hashimoto Disease / genetics
  • Humans
  • Interleukin-23 / immunology
  • Japan / epidemiology
  • Polymorphism, Single Nucleotide*
  • Receptors, Interleukin / genetics*
  • Receptors, Interleukin / immunology
  • Thyroiditis, Autoimmune / epidemiology
  • Thyroiditis, Autoimmune / ethnology
  • Thyroiditis, Autoimmune / genetics*


  • IL23R protein, human
  • Interleukin-23
  • Receptors, Interleukin