Association of a thyroglobulin gene polymorphism with Hashimoto's thyroiditis in the Japanese population
Association of a thyroglobulin gene polymorphism with Hashimoto's thyroiditis in the Japanese population
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DOI：
10.1111/j.1365-2265.2004.02096.x
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发表时间：
2004-08-01
影响因子：
3.2
通讯作者：
Ban, Y
中科院分区：
文献类型：
--
作者：
Ban, Y;Tozaki, T;Ban, Y
目的自身免疫性甲状腺疾病(AITDS)、Graves病(GD)和桥本甲状腺炎的病因目前尚不清楚。然而，遗传易感性被认为起着重要作用。来自日本和美国的两次全基因组扫描发现了染色体8q24上的一个基因座，该基因座显示了与AITD和HT有关的证据。本研究对308例日本AITD患者(194例GD和114例HT)和417例日本对照组进行了关联研究。研究对象为D8S284和D8S272，分别位于8q24区域的微卫星标记Tgms1和Tgms2，位于Tg内含子10和27的微卫星标记，以及Tg33外显子上的SNP。结果AITD患者和对照组D8S284、D8S272和Tgms1的等位基因频率没有差异。同样，Tgms2和外显子33 SNP在所有AITD患者中的等位基因频率分布也没有显著差异。然而，当单独分析HT患者时，我们发现Tgms2的330BP/352BP基因型与HT有显著的相关性(HT=16.7%，对照组=7.1%；校正P值=0.01，OR=2.6)。结论我们的结果证实了先前关于TG基因与AITD关联的报道，提示TG是AITD的易感基因。
OBJECTIVE The aetiology of the autoimmune thyroid diseases (AITDs), Graves' disease (GD) and Hashimoto's thyroiditis is largely unknown. However, genetic susceptibility is believed to play a major role. Two whole genome scans from Japan and from the USA identified a locus on chromosome 8q24 which showed evidence for linkage with AITD and HT. Recent studies have demonstrated an association between a Tg polymorphisms and AITD, suggesting that Tg is the susceptibility gene on 8q24.PATIENTS We studied 308 Japanese AITD patients (194 GD and 114 HT patients) and 417 Japanese control subjects in association studies.DESIGN Case-control association studies were performed using D8S284 and D8S272, microsatellite markers located in the 8q24 region, Tgms1 and Tgms2, microsatellite markers in introns 10 and 27, respectively, of Tg, and a SNP in exon 33 of Tg.RESULTS No differences in allele frequencies were observed between AITD patients and controls for D8S284, D8S272 and Tgms1. Similarly, for Tgms2 and the exon 33 SNP no significant differences in allele frequency distribution were observed for all AITD patients. However, when analysing the HT patients alone we found a significant association between the 330 bp/352 bp genotype of Tgms2 and HT (HT = 16.7%, controls = 7.1%; corrected P-value = 0.01, OR = 2.6).CONCLUSION Our results confirm the previous reports of an association between the Tg gene and AITD and suggest that Tg is an AITD susceptibility gene.