Molecular Thyroid Research Laboratory, Department of Medicine I, Johannes Gutenberg University (JGU) Medical Center, Mainz, Germany.
Front Endocrinol (Lausanne). 2021 Mar 10;12:618213. doi: 10.3389/fendo.2021.618213. eCollection 2021.
Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) are the most frequent chronic autoimmune diseases worldwide. Several autoimmune endocrine and non-endocrine disorders tend to occur together. T1D and AITD often cluster in individuals and families, seen in the formation of autoimmune polyendocrinopathy (AP). The close relationship between these two diseases is largely explained by sharing a common genetic background. The HLA antigens DQ2 () and DQ8 (), tightly linked with DR3 and DR4, are the major common genetic predisposition. Moreover, functional single nucleotide polymorphisms (or rare variants) of various genes, such as the , the , the , the , and the that are involved in immune regulation have been identified to confer susceptibility to both T1D and AITD. Other genes including cluster of differentiation , the , the Class I , , the , the gene, the , and various cytokine genes are also under suspicion to increase susceptibility to T1D and AITD. Further, (, (, (, and ( are found to be associated with T1D and AITD by various independent genome wide association studies and overlap in our list, indicating a strong common genetic link for T1D and AITD. As several susceptibility genes and environmental factors contribute to the disease aetiology of both T1D and AITD and/or AP subtype III variant (T1D+AITD) simultaneously, all patients with T1D should be screened for AITD, and vice versa.
1 型糖尿病 (T1D) 和自身免疫性甲状腺疾病 (AITD) 是全球最常见的慢性自身免疫性疾病。几种自身免疫性内分泌和非内分泌疾病往往同时发生。T1D 和 AITD 常聚集在个体和家族中，形成自身免疫性多内分泌病 (AP)。这两种疾病之间的密切关系在很大程度上可以用共同的遗传背景来解释。HLA 抗原 DQ2()和 DQ8()与 DR3 和 DR4 紧密连锁，是主要的共同遗传易感性。此外，还鉴定出参与免疫调节的各种基因的功能性单核苷酸多态性（或罕见变异），如、、、、和，这些基因与 T1D 和 AITD 的易感性有关。其他基因包括分化群、I 类主要组织相容性复合体、、、、基因、、和各种细胞因子基因也被怀疑增加了 T1D 和 AITD 的易感性。此外，通过各种独立的全基因组关联研究发现（、、、和（与 T1D 和 AITD 相关，并且在我们的列表中重叠，这表明 T1D 和 AITD 之间存在强烈的共同遗传联系。由于多种易感基因和环境因素导致 T1D 和 AITD 的发病机制以及/或 AP 亚型 III 变体（T1D+AITD）同时发生，所有 T1D 患者都应筛查 AITD，反之亦然。
