Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population
Lack of association between tyrosine kinase 2 (TYK2) gene polymorphisms and susceptibility to SLE in a Japanese population
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DOI：
10.1007/s10165-009-0173-1
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发表时间：
2009-08-01
影响因子：
2.2
通讯作者：
Kumagai, Shunichi
中科院分区：
文献类型：
--
作者：
Kyogoku, Chieko;Morinobu, Akio;Kumagai, Shunichi
酪氨酸激酶 2 (TYK2) 是一种 I 型干扰素 (IFN) 信号通路基因，之前有报道称其是高加索人群系统性红斑狼疮 (SLE) 的危险因素。为了测试其与日本人群中 SLE 的遗传关联，对 TYK2 单核苷酸多态性 (SNP)、rs2304256、rs12720270 和 rs280519 进行了基因分型。对总共 411 名日本 SLE 患者和 467 名健康对照者进行了病例对照关联研究。检查了 TYK2 SNP 之间的连锁不平衡 (LD)。根据 94 名健康对照的数据，导致 Val -> Phe 取代的非同义 rs2304256 被发现与 rs12720270 和 rs280519 位于 LD 中。因此，我们进一步对完整样本集中的 rs2304256 作为标签 SNP 进行基因分型。结果，SLE 患者和健康对照之间未发现 rs2304256 的基因型分布和等位基因频率存在差异。总之，TYK2 不是日本人群中 SLE 的遗传危险因素。我们的结果表明，系统性红斑狼疮的易感基因存在种族差异。
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.