Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain

[EN] Alzheimer’s disease (AD) is a progressive neurodegenerative disorder with significant cognitive and functional impacts. Genetic factors, particularly the APOE gene and its allelic variants (ε2, ε3, ε4), play a critical role in AD susceptibility. This study analyzed the allelic frequency and dis...

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Autores: Pardo Pérez, Ignacio, Sánchez Valdeón, Leticia, García Gallego, Ana Belén, Estébanez González, Brisamar, Casado Verdejo, Inés, Fernández Fernández, Jesús Antonio, Méndez Martínez, Carlos, Bello Corral, Laura
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Universidad de León
Repositorio:BULERIA. Repositorio Institucional de la Universidad de León
OAI Identifier:oai:buleria.unileon.es:10612/24983
Acceso en línea:https://www.nature.com/articles/s41598-025-98323-2
https://hdl.handle.net/10612/24983
Access Level:acceso abierto
Palabra clave:Medicina. Salud
Alzheimer’s Disease
APOE polymorphism
Genetic
Geographical distribution
Life quality
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repository_id_str
spelling Regional analysis of APOE polymorphism in Alzheimer’s disease in SpainPardo Pérez, IgnacioSánchez Valdeón, LeticiaGarcía Gallego, Ana BelénEstébanez González, BrisamarCasado Verdejo, InésFernández Fernández, Jesús AntonioMéndez Martínez, CarlosBello Corral, LauraMedicina. SaludAlzheimer’s DiseaseAPOE polymorphismGeneticGeographical distributionLife quality[EN] Alzheimer’s disease (AD) is a progressive neurodegenerative disorder with significant cognitive and functional impacts. Genetic factors, particularly the APOE gene and its allelic variants (ε2, ε3, ε4), play a critical role in AD susceptibility. This study analyzed the allelic frequency and distribution of APOE polymorphisms in three provinces of Castilla y León (León, Soria, Salamanca), Spain, to explore their potential relationship with AD risk. Genotypes were determined using polymerase chain reactions, and statistical analyses revealed significant regional variations. The ε3/ε3 genotype was the most prevalent overall, while the ε3/ε4 genotype predominated in specific areas like Ponferrada. The absence of homozygous ε4 individuals in Soria contrasts sharply with higher frequencies in Salamanca. These differences suggest historical and migratory influences on genetic variability. Identifying regional genetic patterns enhances our understanding of AD risk and supports the development of targeted preventive strategies. Early detection of high-risk alleles could improve patient outcomes, reduce healthcare burdens and inform public health policies.SIThis work was supported by the “Consejo General de Enfermería” (grant ID: PNI_CGE11).Springer NatureEnfermeriaFacultad de Ciencias de la Salud2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://www.nature.com/articles/s41598-025-98323-2https://hdl.handle.net/10612/24983reponame:BULERIA. Repositorio Institucional de la Universidad de Leóninstname:Universidad de LeónIngléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:buleria.unileon.es:10612/249832026-06-24T12:43:27Z
dc.title.none.fl_str_mv Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
title Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
spellingShingle Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
Pardo Pérez, Ignacio
Medicina. Salud
Alzheimer’s Disease
APOE polymorphism
Genetic
Geographical distribution
Life quality
title_short Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
title_full Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
title_fullStr Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
title_full_unstemmed Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
title_sort Regional analysis of APOE polymorphism in Alzheimer’s disease in Spain
dc.creator.none.fl_str_mv Pardo Pérez, Ignacio
Sánchez Valdeón, Leticia
García Gallego, Ana Belén
Estébanez González, Brisamar
Casado Verdejo, Inés
Fernández Fernández, Jesús Antonio
Méndez Martínez, Carlos
Bello Corral, Laura
author Pardo Pérez, Ignacio
author_facet Pardo Pérez, Ignacio
Sánchez Valdeón, Leticia
García Gallego, Ana Belén
Estébanez González, Brisamar
Casado Verdejo, Inés
Fernández Fernández, Jesús Antonio
Méndez Martínez, Carlos
Bello Corral, Laura
author_role author
author2 Sánchez Valdeón, Leticia
García Gallego, Ana Belén
Estébanez González, Brisamar
Casado Verdejo, Inés
Fernández Fernández, Jesús Antonio
Méndez Martínez, Carlos
Bello Corral, Laura
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Enfermeria
Facultad de Ciencias de la Salud
dc.subject.none.fl_str_mv Medicina. Salud
Alzheimer’s Disease
APOE polymorphism
Genetic
Geographical distribution
Life quality
topic Medicina. Salud
Alzheimer’s Disease
APOE polymorphism
Genetic
Geographical distribution
Life quality
description [EN] Alzheimer’s disease (AD) is a progressive neurodegenerative disorder with significant cognitive and functional impacts. Genetic factors, particularly the APOE gene and its allelic variants (ε2, ε3, ε4), play a critical role in AD susceptibility. This study analyzed the allelic frequency and distribution of APOE polymorphisms in three provinces of Castilla y León (León, Soria, Salamanca), Spain, to explore their potential relationship with AD risk. Genotypes were determined using polymerase chain reactions, and statistical analyses revealed significant regional variations. The ε3/ε3 genotype was the most prevalent overall, while the ε3/ε4 genotype predominated in specific areas like Ponferrada. The absence of homozygous ε4 individuals in Soria contrasts sharply with higher frequencies in Salamanca. These differences suggest historical and migratory influences on genetic variability. Identifying regional genetic patterns enhances our understanding of AD risk and supports the development of targeted preventive strategies. Early detection of high-risk alleles could improve patient outcomes, reduce healthcare burdens and inform public health policies.
publishDate 2025
dc.date.none.fl_str_mv 2025
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 https://www.nature.com/articles/s41598-025-98323-2
https://hdl.handle.net/10612/24983
url https://www.nature.com/articles/s41598-025-98323-2
https://hdl.handle.net/10612/24983
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
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.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
dc.source.none.fl_str_mv reponame:BULERIA. Repositorio Institucional de la Universidad de León
instname:Universidad de León
instname_str Universidad de León
reponame_str BULERIA. Repositorio Institucional de la Universidad de León
collection BULERIA. Repositorio Institucional de la Universidad de León
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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