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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Detalles Bibliográficos
Autores: Ciampa, Iacopo, Operto, Grégory, Falcón, Carles, Minguillón Gil, Carolina, Castro de Moura, Manuel, Piñeyro, David, Esteller, Manel, 1968-, Molinuevo, José Luis, Guigó Serra, Roderic, Navarro, Arcadi, Gispert, Juan Domingo, Vilor Tejedor, Natalia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/189407
Acceso en línea:https://hdl.handle.net/2445/189407
Access Level:acceso abierto
Palabra clave:Neurogenètica
Malaltia d'Alzheimer
Cervell
Anàlisi multivariable
Neurogenetics
Alzheimer's disease
Brain
Multivariate analysis
Descripción
Sumario: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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