Abstract:

Alzheimer's disease (AD) is the most common type of dementia in the elderly. The ApoE ε4 gene is the main genetic risk factors for sporadic AD, and is associated with the changes in the amyloid β-protein (Aβ) and tau protein, the core pathological features of AD. ApoE ε4 has great potential as a genetic biomarker for AD. Clinical studies have shown the important role of peripheral blood ApoE ε4 in AD risk assessment and disease detection. But in the current clinical practice, there are many weak points of insufficient understanding and insufficient attention about the clinical use of ApoE ε4. The importance of ApoE ε4 is highlighted especially with the development of high-quality clinical drug trials or the arrival of clinical drug therapy targeting Aβ for AD. So far, there is still a lack of Chinese expert consensus on the standardized application of ApoE ε4 in AD. Given that, this article systematically summarizes the current domestic and international research on the application of ApoE ε4 in AD. The consensus is written and aimed to fully reflect the clinical application value of ApoE ε4 in AD, and improve the diagnosis and treatment level of AD, and guide further clinical research.

Key words: Alzheimer disease, Apolipoprotein E4, Amyloid beta-peptides, Biomarkers, Diagnostic and treatment guideline

摘要：

阿尔茨海默病是老年人群最常见的痴呆类型。载脂蛋白E ε4（ApoE ε4）基因是散发性阿尔茨海默病最主要的遗传风险因素，与其核心生物学标志物β-淀粉样蛋白（Aβ）和tau蛋白病理变化密切相关，是最具潜力的遗传生物学标志物。外周血ApoE ε4基因检测在阿尔茨海默病风险预测和病情评估中起重要作用，但临床实践中存在对ApoE ε4基因检测认识不充分、重视程度不够等问题。特别是随着靶向Aβ的高质量临床药物试验的开展或临床药物治疗时代的到来，ApoE ε4基因检测的重要性日益突显。迄今国内尚缺乏ApoE ε4检测在阿尔茨海默病中规范应用的指南或共识。本文总结国内外ApoE ε4检测在阿尔茨海默病中的应用证据，并在此基础上撰写共识，旨在充分认识ApoE ε4检测在阿尔茨海默病中的临床价值并合理应用，提高疾病诊断与治疗水平，指引进一步的高质量临床研究。

关键词: 阿尔茨海默病, 载脂蛋白E4, 淀粉样β肽类, 生物标记, 诊疗指南