The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese
The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese
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DOI：
10.1089/thy.2005.15.1115
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发表时间：
2005-10-01
期刊：
影响因子：
6.6
通讯作者：
Ban, Y
中科院分区：
文献类型：
--
作者：
Ban, Y;Tozaki, T;Ban, Y
自身免疫性甲状腺疾病（AITDs）、Graves病（GD）和桥本甲状腺炎（HT）的病因在很大程度上是未知的。然而，遗传易感性被认为发挥了重要作用。由蛋白酪氨酸磷酸酶-22（PTPN-22）基因编码的淋巴酪氨酸磷酸酶（LYP）是T细胞活化的强有力抑制剂。最近，研究表明，高加索人中编码PTPN 22密码子620处功能性精氨酸至色氨酸残基变化的单核苷酸多态性（SNP）与GD和其他自身免疫性疾病相关。我们使用聚合酶链反应（PCR）-限制性片段（XcmI）分析检测了334例AITD患者和179例对照组的密码子620多态性基因型。AITD患者和对照组均无色氨酸等位基因。这些数据表明，PTPN 22基因的密码子620多态性在日本人的AITD中没有因果作用。然而，我们不能排除PTPN 22区域作为AITD的另一个易感基因位点，与Trp/Arg SNP连锁不平衡。
The etiology of the autoimmune thyroid diseases (AITDs), Graves' disease (GD), and Hashimoto's thyroiditis (HT) is largely unknown. However, genetic susceptibility is believed to play a major role. The lymphoid tyrosine phosphatase (LYP), encoded by the protein tyrosine phosphatase-22 (PTPN22) gene, is a powerful inhibitor of T cell activation. Recently, a single-nucleotide polymorphism (SNP), encoding a functional arginine to tryptophan residue change at PTPN22 codon 620 in Caucasians has been shown to be associated with GD and other autoimmune diseases. We have used a polymerase chain reaction (PCR)-restriction fragment (XcmI) assay to examine genotypes at the codon 620 polymorphism in 334 unrelated patients with AITD and 179 controls. None of the patients with AITD and controls had the tryptophan allele. These data suggest that the codon 620 polymorphism of the PTPN22 gene does not have a causal role for AITD in the Japanese. However, we cannot exclude the PTPN22 region as harboring another susceptibility locus for AITD in linkage disequilibrium with the Trp/Arg SNP.