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Updated: Jun 16, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Toward an Alzheimer's disease diagnosis via high-resolution blood gene expression
Pascale Fehlbaum-Beurdeley1, Anne Charlotte Jarrige-Le Prado, Diego Pallares
1ExonHit Therapeutics, Paris, France. pascale.beurdeley@exonhit.com
Background:
There is a significant need for reliable molecular biomarkers to aid in Alzheimer's disease (AD) clinical diagnosis.
Methods:
We performed a genome-wide investigation of the human transcriptome, taking into account the discriminatory power of splice variations from the blood of 80 AD patients and 70 nondemented control (NDC) individuals.
Results:
We characterized a blood RNA signature composed of 170 oligonucleotide probe sets associated with 133 genes that can correctly distinguish AD patients from NDC with a sensitivity of 100% and specificity of 96%. Functionally, this signature highlights genes involved in pathways that were associated with macrophages and lymphocytes within AD patients: Transforming growth factor (TGF-beta) signaling, oxidative stress, innate immunity and inflammation, cholesterol homeostasis, and lipid-raft perturbation, whereas other genes may also provide new insights in the biology of AD.
Conclusions:
This study provides proof-of-concept that whole-blood profiling can generate an AD-associated classification signature via the specific relative expression of biologically relevant RNAs. Such a signature will need to be validated with extended patient cohorts, and evaluated to learn whether it can differentiate AD from others types of dementia.
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