Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum

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 geneti...

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Bibliographic Details
Authors: Vilor Tejedor, Natàlia, 1988-, Genius, Patricia, Rodríguez-Fernández, Blanca, Minguillón, Carolina, Sadeghi, Iman, González Escalante, Armand, Crous-Bou, Marta, Suárez-Calvet, Marc, Grau, Oriol (Grau Rivera), Brugulat Serrat, Anna, 1986-, Sánchez Benavides, Gonzalo, Esteller, Manel, Fauria, Karine, Molinuevo, José Luis, Navarro i Cuartiellas, Arcadi, 1969-, Gispert, Juan Domingo, Alzheimer’s Disease Neuroimaging Initiative, ALFA Study
Format: article
Status:Published version
Publication Date:2024
Country:España
Institution:Universitat Pompeu Fabra
Repository:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/58809
Online Access:http://hdl.handle.net/10230/58809
http://dx.doi.org/10.1002/alz.13537
Access Level:Open access
Keyword:AD continuum
ALFA study
Alzheimer&apos
s disease
Neurogenetics
Neurological diseases
Prevention
Description
Summary: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.

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