《生命科学》 2014, 26(1): 15-26
摘 要：摘 要：老年痴呆症，又称阿尔茨海默病(Alzheimer’s disease， AD)，是威胁老年人健康的主要疾病之一。根据发病年龄，AD 可分为早发性(early-onset Alzheimer’s disease， EOAD) 和迟发性(late-onset Alzheimer’s disease， LOAD) 两种，两者均受到遗传因素的影响。目前已知3 个致病基因导致家族性EOAD 的发病：淀粉样前体蛋白基因(β-amyloid precursor protein， APP)、早老素1 基因(presenilin 1， PSEN1) 和早老素2 基因(presenilin 2， PSEN2)。而近年来在全基因组关联分析(genome-wide association study， GWAS) 等新技术的支持下，研究者相继发现并报道了一系列影响LOAD 易感性的风险基因多态性位点。试对上述AD 相关致病基因和主要风险基因加以简要介绍，深入探索这些基因的功能有助于对AD 病理生理机制的认知。
Abstract: Abstract: Alzheimer's disease (AD) is one of the major threats to the health of aged people. The disease could be divided into two categories according to onset age. One is early-onset Alzheimer's disease (EOAD)， and the other is late-onset Alzheimer's disease (LOAD)， both influenced by genetic factors. For EOAD， three disease-causing genes have been found: the amyloid precursor protein (APP)， presenilin 1 (PSEN1)， and presenilin 2 (PSEN2). And as to LOAD， supported by the development of new genetic analysis technologies such as genome-wide association study (GWAS) in the past few years， researchers also reported a series of risk genes altering people's susceptibility to the disease. In this review we give a brief introduction of the AD-related disease-causing gene mutations and the top risk gene variants showing the strongest associations with AD. Further exploring of gene functions may contribute to a better understanding of the physiopathologic mechanism of Alzheimer's disease.
