Alzheimer's disease genetics: current knowledge and future challenges

被引：74

作者：

Hollingworth, Paul ^{[1
]}

Harold, Denise ^{[1
]}

Jones, Lesley ^{[1
]}

Owen, Michael J. ^{[1
]}

Williams, Julie ^{[1
]}

机构：

[1] Cardiff Univ, Sch Med, Dept Psychol Med & Neurol, Med Res Council Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales

来源：

INTERNATIONAL JOURNAL OF GERIATRIC PSYCHIATRY | 2011年 / 26卷 / 08期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

Alzheimer's disease; genetics; Genome wide association study; BIN1; PICALM; CLU; CR1; APOE; GENOME-WIDE ASSOCIATION; AMYLOID-BETA-PEPTIDE; APOLIPOPROTEIN-E GENOTYPE; INCREASED FAMILIAL RISK; SUSCEPTIBILITY LOCI; PRECURSOR-PROTEIN; IDENTIFIES VARIANTS; COMMON VARIANTS; HUMAN PLASMA; HUMAN HEIGHT;

D O I：

10.1002/gps.2628

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Alzheimer's disease (AD) is highly heritable, but genetically complex. Recently, three large-scale genome-wide association studies have made substantial breakthroughs in disentangling the genetic architecture of the disease. These studies combined include data from over 43 000 independent individuals and provide compelling evidence that variants in four novel susceptibility genes (CLU, PICALM, CR1, BIN1) are associated with disease risk. These findings are tremendously exciting, not only in providing new avenues for exploration, but also highlighting the potential for further gene discovery when larger samples are analysed. Here we discuss progress to date in identifying risk genes for dementia, ways forward and how current findings are refining previous ideas and defining new putative primary disease mechanisms. Copyright (C) 2010 John Wiley & Sons, Ltd.

引用

页码：793 / 802

页数：10

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