Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum
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- dc.contributor.author Vilor Tejedor, Natàlia, 1988-
- dc.contributor.author Genius, Patricia
- dc.contributor.author Rodríguez-Fernández, Blanca
- dc.contributor.author Minguillón, Carolina
- dc.contributor.author Sadeghi, Iman
- dc.contributor.author González Escalante, Armand
- dc.contributor.author Crous-Bou, Marta
- dc.contributor.author Suárez-Calvet, Marc
- dc.contributor.author Grau-Rivera, Oriol
- dc.contributor.author Brugulat Serrat, Anna, 1986-
- dc.contributor.author Sánchez Benavides, Gonzalo
- dc.contributor.author Esteller, Manel
- dc.contributor.author Fauria, Karine
- dc.contributor.author Molinuevo, José Luis
- dc.contributor.author Navarro i Cuartiellas, Arcadi, 1969-
- dc.contributor.author Gispert López, Juan Domingo
- dc.contributor.author Alzheimer’s Disease Neuroimaging Initiative
- dc.contributor.author ALFA Study
- dc.date.accessioned 2024-01-24T08:20:11Z
- dc.date.available 2024-01-24T08:20:11Z
- dc.date.issued 2024
- dc.description.abstract Introduction: In 2013, the ALzheimer's and FAmilies (ALFA) project was established to investigate pathophysiological changes in preclinical Alzheimer's disease (AD), and to foster research on early detection and preventive interventions. Methods: We conducted a comprehensive genetic characterization of ALFA participants with respect to neurodegenerative/cerebrovascular diseases, AD biomarkers, brain endophenotypes, risk factors and aging biomarkers. We placed particular emphasis on amyloid/tau status and assessed gender differences. Multiple polygenic risk scores were computed to capture different aspects of genetic predisposition. We additionally compared AD risk in ALFA to that across the full disease spectrum from the Alzheimer's Disease Neuroimaging Initiative (ADNI). Results: Results show that the ALFA project has been successful at establishing a cohort of cognitively unimpaired individuals at high genetic predisposition of AD. Discussion: It is, therefore, well-suited to study early pathophysiological changes in the preclinical AD continuum. Highlights Prevalence of ε4 carriers in ALzheimer and FAmilies (ALFA) is higher than in the general European population The ALFA study is highly enriched in Alzheimer's disease (AD) genetic risk factors beyond APOE AD genetic profiles in ALFA are similar to clinical groups along the continuum ALFA has succeeded in establishing a cohort of cognitively unimpaired individuals at high genetic AD risk ALFA is well suited to study pathogenic events/early pathophysiological changes in AD.
- dc.description.sponsorship The project leading to these results has received funding from “la Caixa” Foundation (ID 100010434), under agreement LCF/PR/GN17/50300004, the Health Department of the Catalan Government (Health Research and Innovation Strategic Plan (PERIS) 2016-2020 grant# SLT002/16/00201) and the Alzheimer's Association (Grant AARG-19-618265). Additional support has been received from the Universities and Research Secretariat, Ministry of Business and Knowledge of the Catalan Government under grant no. 2021_SGR_00913. All CRG authors acknowledge the support of the Spanish Ministry of Science, Innovation, and Universities to the EMBL partnership, the Centro de Excelencia Severo Ochoa, and the CERCA Programme/Generalitat de Catalunya. NV-T and OG-R receive funding from the MCIN/AEI/10.13039/501100011033 and the European Union NextGenerationEU/PRTR, through the Juan de la Cierva Incorporación Programme (IJC2020-043216-I and IJC2020-043417-I respectively). MS-C receives the support of a fellowship from “la Caixa” Foundation (ID 100010434) and from the European Union's Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No 847648. The fellowship code is LCF/BQ/PR21/11840004.
- dc.format.mimetype application/pdf
- dc.identifier.citation Vilor-Tejedor N, Genius P, Rodríguez-Fernández B, Minguillón C, Sadeghi I, González-Escalante A, et al. Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum. Alzheimers Dement. 2024 Mar;20(3):1703-15. DOI: 10.1002/alz.13537
- dc.identifier.doi http://dx.doi.org/10.1002/alz.13537
- dc.identifier.issn 1552-5260
- dc.identifier.uri http://hdl.handle.net/10230/58809
- dc.language.iso eng
- dc.publisher Wiley
- dc.relation.ispartof Alzheimers Dement. 2024 Mar;20(3):1703-15
- dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/IJC2020-043216-I
- dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/IJC2020-043417-I
- dc.rights © 2023 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/4.0/
- dc.subject.keyword AD continuum
- dc.subject.keyword ALFA study
- dc.subject.keyword Alzheimer's disease
- dc.subject.keyword Neurogenetics
- dc.subject.keyword Neurological diseases
- dc.subject.keyword Prevention
- dc.title Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion