Neurodegenerative Brain Diseases Group, VIB-Department of Molecular Genetics; Universiteitsplein 1, B-2610 Antwerp, Belgium.
Trends Genet. 2010 Feb;26(2):84-93. doi: 10.1016/j.tig.2009.12.004. Epub 2010 Jan 18.
The recent discoveries in genome-wide association studies (GWAS) of novel susceptibility loci (CLU, CR1 and PICALM) for Alzheimer's disease (AD) have elicited considerable interest in the AD community. But what are the implications of these purely epidemiological findings for our understanding of disease etiology and patient care? In this review, we attempt to place these findings in the context of current and future AD genetics research. CLU, CR1 and PICALM support existing hypotheses about the amyloid, lipid, chaperone and chronic inflammatory pathways in AD pathogenesis. We discuss how these and future findings can be translated into efforts to ameliorate patient care by genetic profiling for risk prediction and pharmacogenetics and by guiding drug development.
最近在全基因组关联研究(GWAS)中发现了阿尔茨海默病(AD)的新易感基因位点(CLU、CR1 和 PICALM),这引起了 AD 领域的极大关注。但是,这些纯粹的流行病学发现对我们理解疾病病因和患者护理有何影响?在这篇综述中,我们试图将这些发现置于当前和未来的 AD 遗传学研究背景下。CLU、CR1 和 PICALM 支持 AD 发病机制中淀粉样蛋白、脂质、伴侣蛋白和慢性炎症途径的现有假说。我们讨论了这些发现以及未来的发现如何通过遗传风险预测和药物遗传学的基因谱分析以及通过指导药物开发来改善患者护理。