Bear J C
Mol Biol Med. 1986 Apr;3(2):181-94.
Liability to type I diabetes and autoimmune thyroid disease is familial but not monogenic. Associations of each disorder with several genetic polymorphisms suggest complex interactions in genetic liability, as do associations with aberrant immune function in patients and their unaffected relatives. Each disorder may be genetically heterogeneous, and epidemiological studies suggest that environmental influences on liability to type I diabetes are complex. Familial aggregation of these and other autoimmune endocrine disorders is observed. Genetic analyses have not taken full account of these complexities, due to limitations in data, analytical methods, or both. Evaluating interactions of influences on liability to these disorders will require comprehensive investigations in which all relevant immunological and genetic indicators of liability are assessed for patients, affected and unaffected relatives, and healthy controls. These should aim to determine the influence of allelic variation of participating molecules on normal and aberrant immune function, liability to autoimmunity, and liability to individual diseases. Such efforts would facilitate rational immunological manipulation of liability to these disorders.
1型糖尿病和自身免疫性甲状腺疾病的易感性具有家族性，但并非单基因遗传。每种疾病与多种基因多态性的关联表明，遗传易感性存在复杂的相互作用，患者及其未患病亲属的异常免疫功能与之关联时亦是如此。每种疾病可能存在基因异质性，流行病学研究表明，环境因素对1型糖尿病易感性的影响较为复杂。这些自身免疫性内分泌疾病以及其他疾病都存在家族聚集现象。由于数据、分析方法或两者的局限性，基因分析尚未充分考虑这些复杂性。评估影响这些疾病易感性的各种因素之间的相互作用，需要进行全面调查，对患者、患病和未患病亲属以及健康对照者的所有相关免疫和遗传易感性指标进行评估。这些调查应旨在确定参与分子的等位基因变异对正常和异常免疫功能、自身免疫易感性以及个体疾病易感性的影响。此类研究将有助于对这些疾病的易感性进行合理的免疫调控。
