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 ganglia...
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| Veröffentlicht in: | Genes 2021-05, Vol.12 (6), p.825 |
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| creator | Ciampa, Iacopo Operto, Grégory Falcon, Carles Minguillon, Carolina Castro de Moura, Manuel Piñeyro, David Esteller, Manel Molinuevo, Jose Guigó, Roderic Navarro, Arcadi Gispert, Juan Vilor-Tejedor, Natalia |
| 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. |
| doi_str_mv | 10.3390/genes12060825 |
| format | Article |
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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.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes12060825</identifier><identifier>PMID: 34072165</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Alleles ; Alzheimer's disease ; Apolipoprotein E ; Basal ganglia ; Blood-brain barrier ; Brain research ; Enlargement ; Gene polymorphism ; Genetic factors ; Genomes ; Genotype & phenotype ; Magnetic resonance imaging ; Metabolism ; Neurodegenerative diseases ; Polymorphism ; Regression analysis</subject><ispartof>Genes, 2021-05, Vol.12 (6), p.825</ispartof><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 (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2021 by the authors. 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c392t-e3dcb01313da5930f1f1253fc1bd7c17c83aa1b2a928a4b5d9423759ea0e902a3</citedby><cites>FETCH-LOGICAL-c392t-e3dcb01313da5930f1f1253fc1bd7c17c83aa1b2a928a4b5d9423759ea0e902a3</cites><orcidid>0000-0001-5564-2025 ; 0000-0002-6155-0642 ; 0000-0001-5633-3339 ; 0000-0002-5738-4477 ; 0000-0003-4935-6721</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226614/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226614/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27903,27904,53769,53771</link.rule.ids></links><search><creatorcontrib>Ciampa, Iacopo</creatorcontrib><creatorcontrib>Operto, Grégory</creatorcontrib><creatorcontrib>Falcon, Carles</creatorcontrib><creatorcontrib>Minguillon, Carolina</creatorcontrib><creatorcontrib>Castro de Moura, Manuel</creatorcontrib><creatorcontrib>Piñeyro, David</creatorcontrib><creatorcontrib>Esteller, Manel</creatorcontrib><creatorcontrib>Molinuevo, Jose</creatorcontrib><creatorcontrib>Guigó, Roderic</creatorcontrib><creatorcontrib>Navarro, Arcadi</creatorcontrib><creatorcontrib>Gispert, Juan</creatorcontrib><creatorcontrib>Vilor-Tejedor, Natalia</creatorcontrib><creatorcontrib>for the ALFA Study</creatorcontrib><title>Genetic Predisposition to Alzheimer’s Disease Is Associated with Enlargement of Perivascular Spaces in Centrum Semiovale Region</title><title>Genes</title><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. 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Operto, Grégory ; Falcon, Carles ; Minguillon, Carolina ; Castro de Moura, Manuel ; Piñeyro, David ; Esteller, Manel ; Molinuevo, Jose ; Guigó, Roderic ; Navarro, Arcadi ; Gispert, Juan ; Vilor-Tejedor, Natalia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c392t-e3dcb01313da5930f1f1253fc1bd7c17c83aa1b2a928a4b5d9423759ea0e902a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Alleles</topic><topic>Alzheimer's disease</topic><topic>Apolipoprotein E</topic><topic>Basal ganglia</topic><topic>Blood-brain barrier</topic><topic>Brain research</topic><topic>Enlargement</topic><topic>Gene polymorphism</topic><topic>Genetic factors</topic><topic>Genomes</topic><topic>Genotype & phenotype</topic><topic>Magnetic resonance imaging</topic><topic>Metabolism</topic><topic>Neurodegenerative diseases</topic><topic>Polymorphism</topic><topic>Regression analysis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ciampa, Iacopo</creatorcontrib><creatorcontrib>Operto, Grégory</creatorcontrib><creatorcontrib>Falcon, Carles</creatorcontrib><creatorcontrib>Minguillon, Carolina</creatorcontrib><creatorcontrib>Castro de Moura, Manuel</creatorcontrib><creatorcontrib>Piñeyro, David</creatorcontrib><creatorcontrib>Esteller, Manel</creatorcontrib><creatorcontrib>Molinuevo, Jose</creatorcontrib><creatorcontrib>Guigó, Roderic</creatorcontrib><creatorcontrib>Navarro, Arcadi</creatorcontrib><creatorcontrib>Gispert, Juan</creatorcontrib><creatorcontrib>Vilor-Tejedor, Natalia</creatorcontrib><creatorcontrib>for the ALFA Study</creatorcontrib><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ciampa, Iacopo</au><au>Operto, Grégory</au><au>Falcon, Carles</au><au>Minguillon, Carolina</au><au>Castro de Moura, Manuel</au><au>Piñeyro, David</au><au>Esteller, Manel</au><au>Molinuevo, Jose</au><au>Guigó, Roderic</au><au>Navarro, Arcadi</au><au>Gispert, Juan</au><au>Vilor-Tejedor, Natalia</au><aucorp>for the ALFA Study</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic Predisposition to Alzheimer’s Disease Is Associated with Enlargement of Perivascular Spaces in Centrum Semiovale Region</atitle><jtitle>Genes</jtitle><date>2021-05-27</date><risdate>2021</risdate><volume>12</volume><issue>6</issue><spage>825</spage><pages>825-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><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. 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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; PubMed Central |
| subjects | Alleles Alzheimer's disease Apolipoprotein E Basal ganglia Blood-brain barrier Brain research Enlargement Gene polymorphism Genetic factors Genomes Genotype & phenotype Magnetic resonance imaging Metabolism Neurodegenerative diseases Polymorphism Regression analysis |
| title | Genetic Predisposition to Alzheimer’s Disease Is Associated with Enlargement of Perivascular Spaces in Centrum Semiovale Region |
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