Current status on Alzheimer disease molecular genetics: from past, to present, to future

被引：115

作者：

Bettens, Karolien ^{[2
]}

Sleegers, Kristel ^{[2
]}

Van Broeckhoven, Christine ^{[1
,2
]}

机构：

[1] Univ Antwerp VIB, Dept Mol Genet, Neurodegenerat Brain Dis Grp, CDE, B-2610 Antwerp, Belgium

[2] Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2610 Antwerp, Belgium

来源：

HUMAN MOLECULAR GENETICS | 2010年 / 19卷

关键词：

GENOME-WIDE ASSOCIATION; AMYLOID-BETA-PEPTIDE; APP LOCUS DUPLICATION; REGULATORY REGION; APOLIPOPROTEIN-E; INCREASED RISK; IDENTIFIES VARIANTS; PRESENILIN-2; GENE; PRECURSOR-PROTEIN; RARE VARIANTS;

D O I：

10.1093/hmg/ddq142

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Linkage studies, candidate gene and whole-genome association studies have resulted in a tremendous amount of putative risk genes for Alzheimer's disease (AD). Yet, besides the three causal genes-amyloid precursor protein and presenilin 1 and 2 genes-and one risk gene apolipoprotein E (APOE), no single functional risk variant was identified. Discussing the possible involvement of rare alleles and other types of genetic variants, this review summarizes the current knowledge on the genetic spectrum of AD and integrates different approaches and recent discoveries by genome-wide association studies.

引用

页码：R4 / R11

页数：8

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