Reitz Christiane
Future Neurol. 2015 Dec;10(6):547-558. doi: 10.2217/fnl.15.42.
Late-onset Alzheimer's disease (AD), a highly prevalent neurodegenerative disorder characterized by progressive deterioration in cognition, function and behavior terminating in incapacity and death, is a clinically and pathologically heterogeneous disease with a substantial heritable component. During the past 5 years, the technological developments in next-generation high-throughput genome technologies have led to the identification of more than 20 novel susceptibility loci for AD, and have implicated specific pathways in the disease, in particular intracellular trafficking/endocytosis, inflammation and immune response and lipid metabolism. These observations have significantly advanced our understanding of underlying pathogenic mechanisms and potential therapeutic targets. This review article summarizes these recent advances in AD genomics and discusses the value of identified susceptibility loci for diagnosis and prognosis of AD.
晚发型阿尔茨海默病(AD)是一种高度流行的神经退行性疾病,其特征是认知、功能和行为逐渐恶化,最终导致失能和死亡。它是一种临床和病理上异质性的疾病,具有显著的遗传成分。在过去5年中,下一代高通量基因组技术的发展已导致鉴定出20多个新的AD易感基因座,并揭示了该疾病中的特定途径,特别是细胞内运输/内吞作用、炎症和免疫反应以及脂质代谢。这些发现显著推进了我们对潜在致病机制和潜在治疗靶点的理解。这篇综述文章总结了AD基因组学的这些最新进展,并讨论了已鉴定的易感基因座对AD诊断和预后的价值。