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

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.

• Authors: Chieko Kyogoku, Akio Morinobu, Kunihiro Nishimura, Daisuke Sugiyama, Hiroshi Hashimoto, Yoshiaki Tokano, Tsuneyo Mimori, Chikashi Terao, Fumihiko Matsuda, Takayoshi Kuno, Shunichi Kumagai
• Journal: Modern rheumatology (Mod Rheumatol) Vol. 19 Issue 4 Pg. 401-6 ( 2009) ISSN: 1439-7595 [Print] England
• PMID: 19440814 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• TYK2 Kinase
• TYK2 protein, human

Topics

• Adult
• Case-Control Studies
• Female
• Genetic Predisposition to Disease (epidemiology)
• Genotype
• Humans
• Japan (epidemiology)
• Linkage Disequilibrium (genetics)
• Lupus Erythematosus, Systemic (enzymology, genetics)
• Male
• Polymorphism, Single Nucleotide
• TYK2 Kinase (genetics, metabolism)