Alzheimer's disease (AD) is the most frequent cause of dementia in the elderly and represents an important and increasing clinical challenge in terms of diagnosis and treatment. This review highlights the role of genetics in understanding the pieces of the complex AD puzzle and summarizes the genes known to be involved in Alzheimer's disease. The amount of risk of Alzheimer's disease that is attributable to genetics is estimated to be ∼70%. Mutations in the genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) are responsible for early-onset autosomal dominant AD. Although mutations in these genes account for ∼1% of AD cases, their identification has been crucial to understand the molecular mechanisms of AD. For the more common complex late-onset AD, the ɛ-4 allele of the gene encoding apolipoprotein E (APOE) has been recognized as a major genetic risk factor. More recently, several potential disease risk genes have been identified with the use of advanced genomic methods like genome-wide association studies (GWAS). In the end, the knowledge of the pathophysiological mechanisms leading to AD will enable the development of more accurate diagnostic tests and new disease-treating strategies.

译文

:阿尔茨海默氏病(AD)是老年人痴呆症最常见的病因,在诊断和治疗方面代表着重要且不断增加的临床挑战。这篇综述强调了遗传学在理解复杂AD难题中的作用,并总结了已知与阿尔茨海默氏病有关的基因。归因于遗传的阿尔茨海默氏病风险估计约为70%。淀粉样蛋白前体蛋白(APP),早老素1(PSEN1)和早老素2(PSEN2)的编码基因突变是导致早发型常染色体显性AD的原因。尽管这些基因中的突变约占AD病例的1%,但鉴定它们对于理解AD的分子机制至关重要。对于更常见的复杂晚期AD,编码载脂蛋白E(APOE)的基因的ɛ-4等位基因已被认为是主要的遗传危险因素。最近,通过使用先进的基因组方法(如全基因组关联研究(GWAS)),已鉴定出几种潜在的疾病风险基因。最后,对导致AD的病理生理机制的了解将使开发更准确的诊断测试和新的疾病治疗策略成为可能。

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