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

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dc.contributor.author Ciampa, Iacopo
dc.contributor.author Operto, Grégory
dc.contributor.author Falcón, Carles
dc.contributor.author Minguillón, Carolina
dc.contributor.author Castro de Moura, Manuel
dc.contributor.author Piñeyro, David
dc.contributor.author Esteller, Manel
dc.contributor.author Molinuevo, José Luis
dc.contributor.author Guigó Serra, Roderic
dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
dc.contributor.author Gispert López, Juan Domingo
dc.contributor.author Vilor Tejedor, Natàlia, 1988-
dc.contributor.author ALFA Study
dc.date.accessioned 2021-07-21T07:25:18Z
dc.date.available 2021-07-21T07:25:18Z
dc.date.issued 2021
dc.identifier.citation Ciampa I, Operto G, Falcon C, Minguillon C, Castro de Moura M, Piñeyro D, Esteller M, Molinuevo JL, Guigó R, Navarro A, Gispert JD, Vilor-Tejedor N, For The Alfa Study. Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region. Genes (Basel). 2021;12(6):825. DOI: 10.3390/genes12060825
dc.identifier.issn 2073-4425
dc.identifier.uri http://hdl.handle.net/10230/48261
dc.description.abstract 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-ε4 status (carriers vs. non-carriers), these results remained significant only for ε4 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.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher MDPI
dc.relation.ispartof Genes (Basel). 2021;12(6):825
dc.rights © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.3390/genes12060825
dc.subject.keyword APOE-ε4
dc.subject.keyword BIN1-rs744373
dc.subject.keyword Enlargement of perivascular spaces
dc.subject.keyword Neurogenetics
dc.subject.keyword Virchow robin spaces
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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