Genetic Variants and Related Biomarkers in Sporadic Alzheimer’s Disease

被引：0
作者：
Rita Guerreiro
Jose Bras
Jamie Toombs
Amanda Heslegrave
John Hardy
Henrik Zetterberg
机构：
[1] UCL Institute of Neurology,Department of Molecular Neuroscience
[2] The Sahlgrenska Academy at University of Gothenburg,Clinical Neurochemistry Laboratory, Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology
[3] UCL Institute of Neurology,Department of Molecular Neuroscience
来源：
Current Genetic Medicine Reports | 2015年 / 3卷 / 1期
关键词：
Cerebrospinal fluid; Imaging biomarkers; Novel susceptibility genes; Risk alleles;
D O I：
10.1007/s40142-014-0062-6
中图分类号：
学科分类号：
摘要：
From a neuropathological perspective, elderly patients who die with a clinical diagnosis of sporadic Alzheimer’s disease (AD) are a heterogeneous group with several different pathologies contributing to the AD phenotype. This poses a challenge when searching for low effect size susceptibility genes for AD. Further, control groups may be contaminated by significant numbers of preclinical AD patients, which also reduces the power of genetic association studies. Here, we discuss how cerebrospinal fluid and imaging biomarkers can be used to increase the chance of finding novel susceptibility genes and as a means to study the functional consequences of risk alleles.
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页码：19 / 25
页数：6
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