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Updated: Apr 17, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease
Rita Guerreiro1, Jose Bras2, Jamie Toombs2
1Department of Molecular Neuroscience, UCL Institute of Neurology, 1 Wakefield Street (1st Floor), London, WC1N 1PJ UK.
Abstract:
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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