Article
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Neurobiology of aging - 1 May 2015
Cuyvers Elise, van der Zee Julie, Bettens Karolien, Engelborghs Sebastiaan, Vandenbulcke Mathieu, Robberecht Caroline, Dillen Lubina, Merlin Céline, Geerts Nathalie, Graff Caroline, Thonberg Håkan, Chiang Huei-Hsin, Pastor Pau, Ortega-Cubero Sara, Pastor Maria A, Diehl-Schmid Janine, Alexopoulos Panagiotis, Benussi Luisa, Ghidoni Roberta, Binetti Giuliano, Nacmias Benedetta, Sorbi Sandro, Sanchez-Valle Raquel, Lladó Albert, Gelpi Ellen, Almeida Maria Rosário, Santana Isabel, Clarimon Jordi, Lleó Alberto, Fortea Juan, de Mendonça Alexandre, Martins Madalena, Borroni Barbara, Padovani Alessandro, Matěj Radoslav, Rohan Zdenek, Ruiz Agustín, Frisoni Giovanni B, Fabrizi Gian Maria, Vandenberghe Rik, De Deyn Peter P, Van Broeckhoven Christine, Sleegers Kristel
Abstract excerpt
Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the sequestosome 1 (SQSTM1) gene with AD. We performed targeted resequencing of SQSTM1 in Flanders-Belgian AD patients selected to be enriched for a genetic background (n = 435) and geographically matched nonaffected individuals (n = 872) to investigate the role of both...
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