Molecular Immunology and Immunogenetics Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Curr Genomics. 2011 Dec;12(8):564-75. doi: 10.2174/138920211798120844.
Graves' disease (GD) is the most common cause of thyrotoxicosis and often involves the orbits. Graves' ophthalmopathy (GO), also known as Thyroid Eye Disease (TED), can be clinically significant and advance to sight-threatening stages. Our knowledge of the immunogenetic pathophysiology of GO is rapidly expanding. The present review is an attempt to summarize the current state of knowledge on the immunogenetics of GO. First we briefly review the epidemiology and clinical importance of GO, and then we describe in detail the macromolecular pathogenesis and finally immunogenetics of GO. Discrepancies between the results from various reports and the limitations of the available data are discussed. In particular, there is a scarcity of data from non-Asian populations. While several studies have demonstrated significant associations between polymorphisms in certain genes (especially CTLA-4, HLA-DRB-1, and TNF-α), there is a need for studies that investigate the relationship between polymorphisms and both serum and local concentrations of the resulting proteins. A complete understanding of GO susceptibility and pathogenesis has not been yet possible due to a number of important knowledge gaps that need to be filled by future research.
格雷夫斯病（GD）是甲状腺功能亢进症最常见的原因，常涉及眼眶。格雷夫斯眼病（GO），也称为甲状腺眼病（TED），可能具有临床意义，并进展为威胁视力的阶段。我们对 GO 的免疫遗传发病机制的了解正在迅速扩展。本综述试图总结 GO 的免疫遗传学的最新知识。首先，我们简要回顾 GO 的流行病学和临床重要性，然后详细描述 GO 的大分子发病机制和免疫遗传学。讨论了来自不同报告的结果之间的差异以及现有数据的局限性。特别是，来自非亚洲人群的数据稀缺。尽管一些研究表明某些基因（特别是 CTLA-4、HLA-DRB-1 和 TNF-α）中的多态性与疾病之间存在显著关联，但仍需要研究这些多态性与血清和局部浓度之间的关系。由于需要通过未来的研究来填补一些重要的知识空白，因此尚未能够完全了解 GO 的易感性和发病机制。
