Genetic and molecular biomarkers of Alzheimer's disease

[eng] Alzheimer’s disease (AD) is the leading cause of dementia worldwide. Research in the past decade has led to major progress in understanding the genetic etiology of the disease; since I started my PhD (2019), nearly 20 genetic risk factors have been associated with late onset AD. Among them, th...

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Detalles Bibliográficos
Autor: Rojas Salarich, Itziar de
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/202344
Acceso en línea:https://hdl.handle.net/2445/202344
http://hdl.handle.net/10803/689070
Access Level:acceso abierto
Palabra clave:Genètica mèdica
Marcadors bioquímics
Neurociències
Malalties neurodegeneratives
Malaltia d'Alzheimer
Medical genetics
Biochemical markers
Neurosciences
Neurodegenerative Diseases
Alzheimer's disease
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spelling Genetic and molecular biomarkers of Alzheimer's diseaseRojas Salarich, Itziar deGenètica mèdicaMarcadors bioquímicsNeurociènciesMalalties neurodegenerativesMalaltia d'AlzheimerMedical geneticsBiochemical markersNeurosciencesNeurodegenerative DiseasesAlzheimer's disease[eng] Alzheimer’s disease (AD) is the leading cause of dementia worldwide. Research in the past decade has led to major progress in understanding the genetic etiology of the disease; since I started my PhD (2019), nearly 20 genetic risk factors have been associated with late onset AD. Among them, the Ԑ4 allele of the APOE gene was the first identified, and remains the major genetic risk factor for AD. Despite extensive genetic research, a large part of the disease heritability remains elusive, the disease mechanisms incomprehensible, and targeted preventive interventions or pharmacological treatments for AD unavailable at the time. In this context, the overarching aim of the studies included in this thesis was to contribute to the knowledge of AD identifying new genetic risk factors and to better understand the role played by the APOE gene in the development of the disease. Such information would allow us to gain new insights into the molecular and biological mechanisms underlaying the disease and ultimately find new targets for treatment. This thesis provides evidence of the possible effectiveness of the use of a polygenic risk scores in a clinical setting for diagnosis of AD and actively improves the knowledge of the genetic factors associated with AD through genome-wide association studies.Universitat de BarcelonaRuiz Laza, AgustínUniversitat de Barcelona. Facultat de Biologia2023info:eu-repo/semantics/doctoralThesisinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://hdl.handle.net/2445/202344http://hdl.handle.net/10803/689070Tesis Doctorals - Facultat - Biologiareponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaIngléscc by-sa (c) Rojas Salarich, Itziar de, 2023http://creativecommons.org/licenses/by-sa/3.0/es/info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/2023442026-05-27T06:46:51Z
dc.title.none.fl_str_mv Genetic and molecular biomarkers of Alzheimer's disease
title Genetic and molecular biomarkers of Alzheimer's disease
spellingShingle Genetic and molecular biomarkers of Alzheimer's disease
Rojas Salarich, Itziar de
Genètica mèdica
Marcadors bioquímics
Neurociències
Malalties neurodegeneratives
Malaltia d'Alzheimer
Medical genetics
Biochemical markers
Neurosciences
Neurodegenerative Diseases
Alzheimer's disease
title_short Genetic and molecular biomarkers of Alzheimer's disease
title_full Genetic and molecular biomarkers of Alzheimer's disease
title_fullStr Genetic and molecular biomarkers of Alzheimer's disease
title_full_unstemmed Genetic and molecular biomarkers of Alzheimer's disease
title_sort Genetic and molecular biomarkers of Alzheimer's disease
dc.creator.none.fl_str_mv Rojas Salarich, Itziar de
author Rojas Salarich, Itziar de
author_facet Rojas Salarich, Itziar de
author_role author
dc.contributor.none.fl_str_mv Ruiz Laza, Agustín
Universitat de Barcelona. Facultat de Biologia
dc.subject.none.fl_str_mv Genètica mèdica
Marcadors bioquímics
Neurociències
Malalties neurodegeneratives
Malaltia d'Alzheimer
Medical genetics
Biochemical markers
Neurosciences
Neurodegenerative Diseases
Alzheimer's disease
topic Genètica mèdica
Marcadors bioquímics
Neurociències
Malalties neurodegeneratives
Malaltia d'Alzheimer
Medical genetics
Biochemical markers
Neurosciences
Neurodegenerative Diseases
Alzheimer's disease
description [eng] Alzheimer’s disease (AD) is the leading cause of dementia worldwide. Research in the past decade has led to major progress in understanding the genetic etiology of the disease; since I started my PhD (2019), nearly 20 genetic risk factors have been associated with late onset AD. Among them, the Ԑ4 allele of the APOE gene was the first identified, and remains the major genetic risk factor for AD. Despite extensive genetic research, a large part of the disease heritability remains elusive, the disease mechanisms incomprehensible, and targeted preventive interventions or pharmacological treatments for AD unavailable at the time. In this context, the overarching aim of the studies included in this thesis was to contribute to the knowledge of AD identifying new genetic risk factors and to better understand the role played by the APOE gene in the development of the disease. Such information would allow us to gain new insights into the molecular and biological mechanisms underlaying the disease and ultimately find new targets for treatment. This thesis provides evidence of the possible effectiveness of the use of a polygenic risk scores in a clinical setting for diagnosis of AD and actively improves the knowledge of the genetic factors associated with AD through genome-wide association studies.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/doctoralThesis
info:eu-repo/semantics/publishedVersion
format doctoralThesis
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/202344
http://hdl.handle.net/10803/689070
url https://hdl.handle.net/2445/202344
http://hdl.handle.net/10803/689070
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv cc by-sa (c) Rojas Salarich, Itziar de, 2023
http://creativecommons.org/licenses/by-sa/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by-sa (c) Rojas Salarich, Itziar de, 2023
http://creativecommons.org/licenses/by-sa/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universitat de Barcelona
publisher.none.fl_str_mv Universitat de Barcelona
dc.source.none.fl_str_mv Tesis Doctorals - Facultat - Biologia
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,301603

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