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阿尔茨海默病的遗传结构:超越 APP、PSENs 和 APOE。

The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.

机构信息

Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, MD, USA.

出版信息

Neurobiol Aging. 2012 Mar;33(3):437-56. doi: 10.1016/j.neurobiolaging.2010.03.025. Epub 2010 Jul 1.

Abstract

Alzheimer's disease (AD) is a complex disorder with a clear genetic component. Three genes have been identified as the cause of early onset familial AD (EOAD). The most common form of the disease, late onset Alzheimer's disease (LOAD), is, however, a sporadic one presenting itself in later stages of life. The genetic component of this late onset form of AD has been the target of a large number of studies, because only one genetic risk factor (APOE4) has been consistently associated with the disease. However, technological advances allow new approaches in the study of complex disorders. In this review, we discuss the new results produced by genome wide association studies, in light of the current knowledge of the complexity of AD genetics.

摘要

阿尔茨海默病(AD)是一种复杂的疾病,具有明确的遗传成分。有三个基因已被确定为早发性家族性 AD(EOAD)的病因。然而,这种疾病最常见的形式,即晚发性阿尔茨海默病(LOAD),是一种散发性疾病,在生命的后期出现。这种晚发性 AD 的遗传成分是大量研究的目标,因为只有一个遗传风险因素(APOE4)一直与该疾病相关。然而,技术进步允许在研究复杂疾病方面采用新方法。在这篇综述中,我们根据目前对 AD 遗传学复杂性的了解,讨论了全基因组关联研究产生的新结果。

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