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 basa...

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Autores: Ciampa, Iacopo, Operto, Grégory, Falcón, Carles, Minguillón, Carolina, Castro de Moura, Manuel, Piñeyro, David, Esteller, Manel, Molinuevo, José Luis, Guigó Serra, Roderic, Navarro, Arcadi, Gispert, Juan Domingo, Vilor Tejedor, Natàlia, 1988-, ALFA Study
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/48261
Acceso en línea:http://hdl.handle.net/10230/48261
http://dx.doi.org/10.3390/genes12060825
Access Level:acceso abierto
Palabra clave:APOE-ε4
BIN1-rs744373
Enlargement of perivascular spaces
Neurogenetics
Virchow robin spaces
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spelling Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale regionCiampa, IacopoOperto, GrégoryFalcón, CarlesMinguillón, CarolinaCastro de Moura, ManuelPiñeyro, DavidEsteller, ManelMolinuevo, José LuisGuigó Serra, RodericNavarro, ArcadiGispert, Juan DomingoVilor Tejedor, Natàlia, 1988-ALFA StudyAPOE-ε4BIN1-rs744373Enlargement of perivascular spacesNeurogeneticsVirchow robin spacesThis 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.MDPI202120212021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/48261http://dx.doi.org/10.3390/genes12060825reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésGenes (Basel). 2021;12(6):825© 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/).http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/482612026-05-29T05:05:01Z
dc.title.none.fl_str_mv Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
title Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
spellingShingle Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
Ciampa, Iacopo
APOE-ε4
BIN1-rs744373
Enlargement of perivascular spaces
Neurogenetics
Virchow robin spaces
title_short Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
title_full Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
title_fullStr Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
title_full_unstemmed Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
title_sort Genetic predisposition to Alzheimer's disease is associated with enlargement of perivascular spaces in centrum semiovale region
dc.creator.none.fl_str_mv Ciampa, Iacopo
Operto, Grégory
Falcón, Carles
Minguillón, Carolina
Castro de Moura, Manuel
Piñeyro, David
Esteller, Manel
Molinuevo, José Luis
Guigó Serra, Roderic
Navarro, Arcadi
Gispert, Juan Domingo
Vilor Tejedor, Natàlia, 1988-
ALFA Study
author Ciampa, Iacopo
author_facet Ciampa, Iacopo
Operto, Grégory
Falcón, Carles
Minguillón, Carolina
Castro de Moura, Manuel
Piñeyro, David
Esteller, Manel
Molinuevo, José Luis
Guigó Serra, Roderic
Navarro, Arcadi
Gispert, Juan Domingo
Vilor Tejedor, Natàlia, 1988-
ALFA Study
author_role author
author2 Operto, Grégory
Falcón, Carles
Minguillón, Carolina
Castro de Moura, Manuel
Piñeyro, David
Esteller, Manel
Molinuevo, José Luis
Guigó Serra, Roderic
Navarro, Arcadi
Gispert, Juan Domingo
Vilor Tejedor, Natàlia, 1988-
ALFA Study
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv APOE-ε4
BIN1-rs744373
Enlargement of perivascular spaces
Neurogenetics
Virchow robin spaces
topic APOE-ε4
BIN1-rs744373
Enlargement of perivascular spaces
Neurogenetics
Virchow robin spaces
description 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.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/48261
http://dx.doi.org/10.3390/genes12060825
url http://hdl.handle.net/10230/48261
http://dx.doi.org/10.3390/genes12060825
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Genes (Basel). 2021;12(6):825
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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