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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20 Citations (Scopus)

Abstract

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
Volume19
Issue number4
DOIs
Publication statusPublished - 2009 May 14
Externally publishedYes

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Keywords

  • 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

Cite this

Kyogoku, C., Morinobu, A., Nishimura, K., Sugiyama, D., Hashimoto, H., Tokano, Y., Mimori, T., Terao, C., Matsuda, F., Kuno, T., & Kumagai, S. (2009). Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population. Modern rheumatology, 19(4), 401-406. https://doi.org/10.1007/s10165-009-0173-1