Genetics and epigenetics of autoimmune thyroid diseases: Translational implications

IF 6.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2023-03-01 DOI:10.1016/j.beem.2022.101661

Hanna J. Lee (Assistant Professor), Mihaela Stefan–Lifshitz (Associate Professor), Cheuk Wun Li (Assistant Professor), Yaron Tomer (Professor)

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引用次数: 13

Abstract

Hashimoto's thyroiditis (HT) and Graves' disease (GD) are prevalent autoimmune disorders, representing opposite ends of the clinical spectrum of autoimmune thyroid diseases (AITD). The pathogenesis involves a complex interplay between environment and genes. Specific susceptibility genes have been discovered that predispose to AITD, including thyroid-specific and immune-regulatory genes. Growing evidence has revealed that genetic and epigenetic variants can alter autoantigen presentation during the development of immune tolerance, can enhance self-peptide binding to MHC (major histocompatibility complex), and can amplify stimulation of T- and B-cells. These gene-driven mechanistic discoveries lay the groundwork for novel treatment targets. This review summarizes recent advances in our understanding of key AITD susceptibility genes (Tg¹, TSHR, HLA-DR3, and CD40) and their translational therapeutic potential.

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自身免疫性甲状腺疾病的遗传学和表观遗传学:翻译意义

桥本甲状腺炎（HT）和格雷夫斯病（GD）是流行的自身免疫性疾病，代表了自身免疫性甲状腺疾病（AITD）临床谱的两端。发病机制涉及环境和基因之间复杂的相互作用。已经发现了易患AITD的特异性易感性基因，包括甲状腺特异性和免疫调节基因。越来越多的证据表明，遗传和表观遗传变异可以在免疫耐受的发展过程中改变自身抗原的呈递，可以增强自身肽与MHC（主要组织相容性复合体）的结合，并可以放大对T细胞和B细胞的刺激。这些基因驱动的机制发现为新的治疗靶点奠定了基础。这篇综述总结了我们对AITD关键易感基因（Tg1、TSHR、HLA-DR3和CD40）及其翻译治疗潜力的理解的最新进展。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Best practice & research. Clinical endocrinology & metabolism 医学-内分泌学与代谢

CiteScore

11.90

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management. Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.