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

Vilor-Tejedor N, Genius P, Rodríguez-Fernández B, Minguillón C, Sadeghi I, González-Escalante A, Crous-Bou M, Suárez-Calvet M, Grau-Rivera O, Brugulat-Serrat A, Sánchez-Benavides G, Esteller M, Fauria K, Molinuevo JL, Navarro A, Gispert JD; Alzheimer's Disease Neuroimaging Initiative; ALFA study.

Alzheimers Dement

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.

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