Research output: Contribution to journal › Article › peer-review
for the AddNeuroMed consortium and the Alzheimer’s Disease Neuroimaging Initiative
Original language | English |
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Article number | 183 |
Number of pages | 1 |
Journal | Alzheimer's Research and Therapy |
Volume | 13 |
Issue number | 1 |
Early online date | 3 Nov 2021 |
DOIs | |
E-pub ahead of print | 3 Nov 2021 |
Published | Dec 2021 |
Additional links |
Background: The interaction between the brain and periphery might play a crucial role in the development of Alzheimer’s disease (AD). Methods: Using blood transcriptomic profile data from two independent AD cohorts, we performed expression quantitative trait locus (cis-eQTL) analysis of 29 significant genetic loci from a recent large-scale genome-wide association study to investigate the effects of the AD genetic variants on gene expression levels and identify their potential target genes. We then performed differential gene expression analysis of identified AD target genes and linear regression analysis to evaluate the association of differentially expressed genes with neuroimaging biomarkers. Results: A cis-eQTL analysis identified and replicated significant associations in seven genes (APH1B, BIN1, FCER1G, GATS, MS4A6A, RABEP1, TRIM4). APH1B expression levels in the blood increased in AD and were associated with entorhinal cortical thickness and global cortical amyloid-β deposition. Conclusion: An integrative analysis of genetics, blood-based transcriptomic profiles, and imaging biomarkers suggests that APH1B expression levels in the blood might play a role in the pathogenesis of AD.
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