自身免疫性甲状腺疾病的病因：基因与环境的故事。
The etiology of autoimmune thyroid disease: a story of genes and environment.
作者信息
Tomer Yaron, Huber Amanda
机构信息
Division of Endocrinology, University of Cincinnati College of Medicine, The Vontz Center for Molecular Studies, Cincinnati, OH 45267, USA.
出版信息
J Autoimmun. 2009 May-Jun;32(3-4):231-9. doi: 10.1016/j.jaut.2009.02.007.
Abstract
Autoimmune thyroid diseases (AITDs), including Graves' disease (GD) and Hashimoto's thyroiditis (HT) are prevalent autoimmune diseases, affecting up to 5% of the general population. Autoimmune thyroid diseases arise due to complex interactions between environmental and genetic factors. Significant progress has been made in our understanding of the genetic and environmental triggers contributing to AITD. However, the interactions between genes and environment are yet to be defined. Among the major AITD susceptibility genes that have been identified and characterized is the HLA-DR gene locus, as well as non-MHC genes including the CTLA-4, CD40, PTPN22, thyroglobulin, and TSH receptor genes. The major environmental triggers of AITD include iodine, medications, infection, smoking, and possibly stress. Recent data on the genetic predisposition to AITD lead to novel putative mechanisms by which the genetic-environmental interactions may lead to the development of thyroid autoimmunity.
摘要
自身免疫性甲状腺疾病（AITD），包括格雷夫斯病（GD）和桥本甲状腺炎（HT），是常见的自身免疫性疾病，影响着高达5%的普通人群。自身免疫性甲状腺疾病是由环境因素和遗传因素之间的复杂相互作用引起的。我们对导致AITD的遗传和环境触发因素的理解取得了重大进展。然而，基因与环境之间的相互作用尚未明确。在已被鉴定和表征的主要AITD易感基因中，有HLA - DR基因座，以及包括CTLA - 4、CD40、PTPN22、甲状腺球蛋白和促甲状腺激素受体基因在内的非MHC基因。AITD的主要环境触发因素包括碘、药物、感染、吸烟以及可能的压力。关于AITD遗传易感性的最新数据引出了新的假定机制，通过这些机制，遗传 - 环境相互作用可能导致甲状腺自身免疫的发展。
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