1型糖尿病的遗传风险因素
Flemming Pociot1, Åke Lernmark2
1Department of Pediatrics, Herlev and Gentofte Hospital, DK-2730 Herlev, Denmark.
Lancet (London, England)
|June 16, 2016
概括
1型糖尿病发生在经过一段时间的β细胞自身免疫后,通常由多个自身抗体触发. 更多的自身抗体类型增加了疾病快速进展的风险,作为致病的生物标志物.
科学领域:
- 免疫学
- 内分泌学
- 遗传学
背景情况:
- 1型糖尿病 (T1D) 的诊断是在贝塔细胞自身免疫的前期之后进行的.
- 对胰岛素的自身抗体,谷氨酸脱碳酶 (GAD),小岛抗原-2 (IA-2) 和ZnT8转运体是关键的生物标志物.
- 遗传倾向,特别是HLA-DR3-DQ2和HLA-DR4-DQ8类型是主要的风险因素.
研究的目的:
- 阐明自身抗体在1型糖尿病发病的作用.
- 了解自身抗体特征与疾病进展之间的关系.
- 探索1型糖尿病作为其他器官特异性自身免疫疾病的模型.
主要方法:
- 在1型糖尿病患者中分析自身抗体的存在和类型.
- 自体抗体与遗传风险因子 (HLA单元型) 的相关性.
- 基于自身免疫,血糖控制和症状的疾病发病阶段.
主要成果:
- 多个β细胞自身抗体的存在与1型糖尿病快速进展的风险高相关.
- 自体抗体作为潜在的自身免疫过程的可复制生物标志物.
- 在基因敏感的个体中,通常需要环境触发物.
结论:
- 自身抗体类型的数量是1型糖尿病进展的重要预测因素.
- 1型糖尿病的发病可分为不同的阶段,具有不同的遗传关联.
- 对于研究长期临床前阶段的其他自身免疫性疾病来说,T1D是一个有价值的模型.
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