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Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population |
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| Authors: | Chieko Kyogoku Akio Morinobu Kunihiro Nishimura Daisuke Sugiyama Hiroshi Hashimoto Yoshiaki Tokano Tsuneyo Mimori Chikashi Terao Fumihiko Matsuda Takayoshi Kuno Shunichi Kumagai |
| Institution: | 1. Department of Clinical Pathology and Immunology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan 2. Department of Evidence-based Laboratory Medicine, Kobe University Graduate School of Medicine, Kobe, Japan 3. Department of Internal Medicine and Rheumatology, Juntendo University School of Medicine, Tokyo, Japan 4. Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto, Japan 5. Center for Genomic Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan 6. Division of Molecular Pharmacology and Pharmacogenomics, Department of Biochemistry and Molecular Biology, Kobe University Graduate School of Medicine, Kobe, Japan |
| 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. |
| 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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