Polymorphism Rs2421943 of the Insulin-Degrading Enzyme Gene and the
Risk of Late-Onset Alzheimer’s Disease

doi:10.2174/1567205019666220302120950

摘要

背景:胰岛素降解酶（IDE）是一种广泛分布的Zn2+结合金属蛋白酶，可切割多个易于形成β-结构的短、中型肽。这些包括胰岛素和淀粉样β肽。淀粉样β肽的积累和纤维化导致淀粉样斑块的形成是阿尔茨海默病（AD）病理学的特征性标志。摘要: 该研究调查了IDE基因的rs2421943单核苷酸多态性（SNP）作为MCI（轻度认知障碍）和AD的危险因素。方法: 包括两组独立的1670名患者和对照组。AD组由595名患者和400名对照组成；MCI组包括135名患者和540名匹配对照。PCR和限制性片段长度分析用于分析rs2421943多态性。在计算机上使用miRNA和RNA22预测工具表明，rs2421943多态性是特异性miRNA（hsa-miR-7110-5p）的潜在靶点。结果: rs2421943的AG和GG基因型显著增加AD风险，AG基因型增加MCI风险。G等位基因似乎既增加了AD的风险，又加速了MCI阶段的转变。电子研究显示，rs2421943位于结合miRNA hsa-miR-7110-5p的序列内。多态性可能影响IDE前RNA（异质核RNA，HRNA）的处理速度，导致翻译速度减慢、IDE水平降低、淀粉样β片段的去除不足，以及AD的更大风险和/或进展加快。结论: 胰岛素降解酶基因单核苷酸多态性rs2421943的GG和AG基因型增加了AD和MCI的风险。

关键词: 阿尔茨海默病、轻度认知障碍、胰岛素降解酶、2型糖尿病、淀粉样β肽、单核苷酸多态性

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DOI https://dx.doi.org/10.2174/1567205019666220302120950	Print ISSN 1567-2050
Publisher Name Bentham Science Publisher	Online ISSN 1875-5828

当代阿耳茨海默病研究

胰岛素降解酶基因Rs2421943多态性与晚发性阿尔茨海默病的风险

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Current updates on the Role of Neuroinflammation in Neurodegenerative Disorders

当代阿耳茨海默病研究

胰岛素降解酶基因Rs2421943多态性与晚发性阿尔茨海默病的风险

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