Journal
MODERN RHEUMATOLOGY
Volume 19, Issue 4, Pages 401-406Publisher
SPRINGER
DOI: 10.1007/s10165-009-0173-1
Keywords
Systemic lupus erythematosus (SLE); Tyrosine kinase 2 (TYK2); Single nucleotide polymorphism (SNP); Type I interferon (IFN) signaling pathway; Association study
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Funding
- 21st Century COE Program
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Science and Technology Foundation of Japan
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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.
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