Department of Molecular Genetics, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
Hum Mol Genet. 2010 Apr 15;19(R1):R4-R11. doi: 10.1093/hmg/ddq142. Epub 2010 Apr 13.
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.
连锁研究、候选基因和全基因组关联研究已经为阿尔茨海默病（AD）的潜在风险基因提供了大量信息。然而，除了三个致病基因——淀粉样前体蛋白和早老素 1 和 2 基因——和一个风险基因载脂蛋白 E（APOE）外，没有发现任何单一的功能性风险变异。本文讨论了罕见等位基因和其他类型遗传变异的可能参与，总结了 AD 的遗传谱的现有知识，并整合了全基因组关联研究的不同方法和最新发现。
