University of Groningen, University Medical Centre Groningen, Department of Genetics, PO Box 30001, 9700 RB Groningen, Netherlands.
Nat Rev Endocrinol. 2013 Nov;9(11):646-59. doi: 10.1038/nrendo.2013.161. Epub 2013 Aug 20.
Many endocrine diseases, including type 1 diabetes mellitus, Graves disease, Addison disease and Hashimoto disease, originate as an autoimmune reaction that affects disease-specific target organs. These autoimmune diseases are characterized by the development of specific autoantibodies and by the presence of autoreactive T cells. They are caused by a complex genetic predisposition that is attributable to multiple genetic variants, each with a moderate-to-low effect size. Most of the genetic variants associated with a particular autoimmune endocrine disease are shared between other systemic and organ-specific autoimmune and inflammatory diseases, such as rheumatoid arthritis, coeliac disease, systemic lupus erythematosus and psoriasis. Here, we review the shared and specific genetic background of autoimmune diseases, summarize their treatment options and discuss how identifying the genetic and environmental factors that predispose patients to an autoimmune disease can help in the diagnosis and monitoring of patients, as well as the design of new treatments.
许多内分泌疾病，包括 1 型糖尿病、格雷夫斯病、艾迪生病和桥本甲状腺炎，源于针对特定疾病靶器官的自身免疫反应。这些自身免疫性疾病的特征是产生特定的自身抗体和自身反应性 T 细胞。它们是由复杂的遗传易感性引起的，归因于多个遗传变异，每个变异的效应大小为中等至低。与特定自身免疫性内分泌疾病相关的大多数遗传变异也存在于其他全身性和器官特异性自身免疫性和炎症性疾病中，如类风湿关节炎、乳糜泻、系统性红斑狼疮和银屑病。在这里，我们回顾了自身免疫性疾病的共享和特定遗传背景，总结了它们的治疗选择，并讨论了如何识别使患者易患自身免疫性疾病的遗传和环境因素，这有助于疾病的诊断和监测，以及新治疗方法的设计。
