Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region

This study investigated whether genetic factors involved in Alzheimer's disease (AD) are associated with enlargement of Perivascular Spaces (ePVS) in the brain. A total of 680 participants with T2-weighted MRI scans and genetic information were acquired from the ALFA study. ePVS in the basal ga...

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Bibliographic Details
Authors: Ciampa, Iacopo, Operto, Grégory, Falcón, Carles, Minguillón Gil, Carolina, Castro de Moura, Manuel, Piñeyro, David, Esteller, Manel, Molinuevo, José Luis, Guigó Serra, Roderic, Navarro, Arcadi, Gispert, Juan Domingo, Vilor Tejedor, Natalia
Format: article
Status:Published version
Publication Date:2021
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/189407
Online Access:https://hdl.handle.net/2445/189407
Access Level:Open access
Keyword:Neurogenètica
Malaltia d'Alzheimer
Cervell
Anàlisi multivariable
Neurogenetics
Alzheimer's disease
Brain
Multivariate analysis
Description
Summary:This study investigated whether genetic factors involved in Alzheimer's disease (AD) are associated with enlargement of Perivascular Spaces (ePVS) in the brain. A total of 680 participants with T2-weighted MRI scans and genetic information were acquired from the ALFA study. ePVS in the basal ganglia (BG) and the centrum semiovale (CS) were assessed based on a validated visual rating scale. We used univariate and multivariate logistic regression models to investigate associations between ePVS in BG and CS with BIN1-rs744373, as well as APOE genotypes. We found a significant association of the BIN1-rs744373 polymorphism in the CS subscale (p value = 0.019; OR = 2.564), suggesting that G allele carriers have an increased risk of ePVS in comparison with A allele carriers. In stratified analysis by APOE-#4 status (carriers vs. non-carriers), these results remained significant only for '4 carriers (p value = 0.011; OR = 1.429). To our knowledge, the present study is the first suggesting that genetic predisposition for AD is associated with ePVS in CS. These findings provide evidence that underlying biological processes affecting AD may influence CS-ePVS.

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