Genetic characterization of the ALFA study

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...

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Authors: Vilor Tejedor, Natalia; Genius, Patricia; Rodríguez-Fernández, Blanca; Minguillón, Carolina; Sadeghi, Iman; González-Escalante, Armand; Crous-Bou, Marta|||0000-0003-1493-4288; Suárez-Calvet, Marc|||0000-0002-2993-569X; Grau-Rivera, Oriol|||0000-0002-4730-5341; Brugulat-Serrat, Anna; Sánchez Benavides, Gonzalo; Esteller, M.|||0000-0003-4490-6093; Fauria, Karine; Molinuevo, José Luis|||0000-0003-0485-6001; Navarro, Arcadi|||0000-0003-2162-8246; Gispert, Juan Domingo|||0000-0002-6155-0642
Format: Article
Publication date:2023
Country:España
Institution:Universitat Autònoma de Barcelona
Repository:Dipòsit Digital de Documents de la UAB
Language:English
OAI Identifier:oai:ddd.uab.cat:289223
Online Access:https://ddd.uab.cat/record/289223
https://dx.doi.org/urn:doi:10.1002/alz.13537
Access Level:Open access
Keyword:AD continuum
ALFA study
Alzheimer's disease
Neurogenetics
Neurological diseases
Prevention
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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