Article
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease.
Molecular psychiatry - 1 Jun 2016
Nicolas G, Charbonnier C, Wallon D, Quenez O, Bellenguez C, Grenier-Boley B, Rousseau S, Richard A-C, Rovelet-Lecrux A, Le Guennec K, Bacq D, Garnier J-G, Olaso R, Boland A, Meyer V, Deleuze J-F, Amouyel P, Munter H M, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues J-F, Génin E, Lambert J-C, Hannequin D, Campion D
Abstract excerpt
The SORL1 protein plays a protective role against the secretion of the amyloid β peptide, a key event in the pathogeny of Alzheimer's disease. We assessed the impact of SORL1 rare variants in early-onset Alzheimer's disease (EOAD) in a case-control setting. We conducted a whole exome analysis among 484 French EOAD patients and 498 ethnically matched controls. After collapsing rare variants (minor allele frequency...
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