Genetic insights in Alzheimer's disease

被引：274

作者：

Bettens, Karolien ^{[1
,2
]}

Sleegers, Kristel ^{[1
,2
]}

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

机构：

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

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

来源：

LANCET NEUROLOGY | 2013年 / 12卷 / 01期

关键词：

GENOME-WIDE ASSOCIATION; COMPLEMENT RECEPTOR 1; APP LOCUS DUPLICATION; COPY NUMBER VARIATION; COMMON VARIANTS; PLASMA CLUSTERIN; MISSING HERITABILITY; CEREBROSPINAL-FLUID; IDENTIFIES VARIANTS; MISSENSE MUTATIONS;

D O I：

10.1016/S1474-4422(12)70259-4

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In the search for new genes in Alzheimer's disease, classic linkage-based and candidate-gene-based association studies have been supplanted by exome sequencing, genome-wide sequencing (for mendelian forms of Alzheimer's disease), and genome-wide association studies (for non-mendelian forms). The identification of new susceptibility genes has opened new avenues for exploration of the underlying disease mechanisms. In addition to detecting novel risk factors in large samples, next-generation sequencing approaches can deliver novel insights with even small numbers of patients. The shift in focus towards translational studies and sequencing of individual patients places each patient's biomaterials as the central unit of genetic studies. The notional shift needed to make the patient central to genetic studies will necessitate strong collaboration and input from clinical neurologists.

引用

页码：92 / 104

页数：13

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