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GWAS 时代的阿尔茨海默病遗传学:“重复与反驳”的持续故事。

Alzheimer's genetics in the GWAS era: a continuing story of 'replications and refutations'.

机构信息

Neuropsychiatric Genetics Group, Department of Vertebrate Genomics, Max-Planck Institute for Molecular Genetics, Ihnestrasse 63, Room 204.1, 14195 Berlin, Germany.

出版信息

Curr Neurol Neurosci Rep. 2011 Jun;11(3):246-53. doi: 10.1007/s11910-011-0193-z.

Abstract

After a decade of intensive investigation but only few replicable results, Alzheimer's disease (AD) genetics research is slowly picking up pace. This is mostly owing to the completion of several genome-wide association studies (GWAS), which have suggested the existence of over three dozen potential new AD susceptibility genes. Although only a handful of these could be confirmed in subsequent independent replication efforts to date, this success rate is still much higher than in the pre-GWAS era. This review provides a brief summary of the principal methodologic advances in genetics research of the past decade, followed by a description of the most compelling findings that these advances have unearthed in AD. The paper closes with a discussion of the persistent methodologic difficulties and challenges and an outlook on what we can expect to gain from the next 10 years of AD genetics research.

摘要

经过十年的深入研究,但只有少数可重复的结果,阿尔茨海默病(AD)的遗传学研究正在慢慢加快步伐。这主要归功于完成了几项全基因组关联研究(GWAS),这些研究表明存在三十多个潜在的新 AD 易感基因。尽管迄今为止只有少数几个能够在后续的独立复制工作中得到证实,但这一成功率仍远高于 GWAS 之前的水平。这篇综述简要总结了过去十年遗传学研究的主要方法学进展,然后描述了这些进展在 AD 中发现的最引人注目的发现。本文最后讨论了持续存在的方法学困难和挑战,并展望了未来 10 年 AD 遗传学研究我们可以期待获得的成果。

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