Susceptibility genes in thyroid autoimmunity.
Susceptibility genes in thyroid autoimmunity.
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DOI：
10.1080/17402520400008897
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发表时间：
2005-03-01
影响因子：
--
通讯作者：
Tomer, Yaron
中科院分区：
文献类型：
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作者：
Ban, Yoshiyuki;Tomer, Yaron
自身免疫性甲状腺疾病（AITD）是由易感基因和环境触发因素相互作用引起的复杂疾病。据信，遗传易感性与外部因素（例如膳食碘）相结合会引发针对甲状腺抗原的自身免疫反应。包括家庭和双胞胎研究在内的大量流行病学数据表明，遗传对 AITD 的发展有很强的影响。已采用各种技术来鉴定导致 AITD 病因的基因，包括候选基因分析和全基因组筛选。这些研究已经能够鉴定出与 AITD 相关的几个基因座（遗传区域），并且在其中一些基因座中，已经鉴定出推定的 AITD 易感基因。其中一些基因/位点是格雷夫斯病 (GD) 和桥本甲状腺炎 (HT) 所特有的，而另一些则是这两种疾病所共有的，表明对 GD 和 HT 存在共同的遗传易感性。假定的 GD 和 HT 易感基因包括免疫修饰基因（例如 HLA、CTLA-4）和甲状腺特异性基因（例如 TSHR、Tg）。最有可能的是，这些基因座相互作用并且它们的相互作用可能影响疾病表型和严重程度。
The autoimmune thyroid diseases (AITD) are complex diseases which are caused by an interaction between susceptibility genes and environmental triggers. Genetic susceptibility in combination with external factors (e.g. dietary iodine) is believed to initiate the autoimmune response to thyroid antigens. Abundant epidemiological data, including family and twin studies, point to a strong genetic influence on the development of AITD. Various techniques have been employed to identify the genes contributing to the etiology of AITD, including candidate gene analysis and whole genome screening. These studies have enabled the identification of several loci (genetic regions) that are linked with AITD, and in some of these loci, putative AITD susceptibility genes have been identified. Some of these genes/loci are unique to Graves' disease (GD) and Hashimoto's thyroiditis (HT) and some are common to both the diseases, indicating that there is a shared genetic susceptibility to GD and HT. The putative GD and HT susceptibility genes include both immune modifying genes (e.g. HLA, CTLA-4) and thyroid specific genes (e.g. TSHR, Tg). Most likely, these loci interact and their interactions may influence disease phenotype and severity.