Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population

Chieko Kyogoku, Akio Morinobu, Kunihiro Nishimura, Daisuke Sugiyama, Hiroshi Hashimoto, Yoshiaki Tokano, Tsuneyo Mimori, Chikashi Terao, Fumihiko Matsuda, Takayoshi Kuno, Shunichi Kumagai

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25 Citations (Scopus)


Tyrosine kinase 2 (TYK2) is a type I interferon (IFN) signaling pathway gene and was previously reported to be a risk factor for systemic lupus erythematosus (SLE) in Caucasian populations. In order to test for its genetic association with SLE in a Japanese population, TYK2 single nucleotide polymorphisms (SNPs), rs2304256, rs12720270 and rs280519, were genotyped. A case - control association study was performed in a total of 411 Japanese SLE patients and 467 healthy controls. Linkage disequilibrium (LD) among TYK2 SNPs was examined. According to the data from 94 healthy controls, non-synonymous rs2304256 resulting in Val → Phe substitution was revealed to be in a LD with rs12720270 and rs280519. Therefore, we further genotyped rs2304256 as a tag SNP in the full sample sets. As a result, no differences in genotype distribution and allelic frequencies of rs2304256 were found between SLE patients and healthy controls. In conclusion, TYK2 is not a genetic risk factor for SLE in a Japanese population. Our result suggests that there is an ethnic difference in the susceptibility genes for SLE.

Original languageEnglish
Pages (from-to)401-406
Number of pages6
JournalModern rheumatology
Issue number4
Publication statusPublished - 2009
Externally publishedYes


  • Association study
  • Single nucleotide polymorphism (SNP)
  • Systemic lupus erythematosus (SLE)
  • Type I interferon (IFN) signaling pathway
  • Tyrosine kinase 2 (TYK2)

ASJC Scopus subject areas

  • Rheumatology


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