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APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer?s disease

Velez, Jorge; Lopera, Francisco; Falla, D.; Patel, Hardip; Johar, Angad; Chuah, Aaron; Tobon, C; Rivera, Dora; Villegas, A; Cai, Yeping; Peng, Kaimen; Arkell, Ruth; Castellanos, F.X.; Andrews, Shea; Silva Lara, Maria; Easteal, Simon; de Leon, J.; Wong, Ma-Li; Licinio, Julio; Mastronardi, Claudio; Arcos-Burgos, Mauricio (Oscar)


Alzheimer’s disease (AD) age of onset (ADAOO) varies greatly between individuals, with unique causal mutations suggesting the role of modifying genetic and environmental interactions. We analyzed ~ 50 000 common and rare functional genomic variants from 71 individuals of the ‘Paisa’ pedigree, the world’s largest pedigree segregating a severe form of early-onset AD, who were affected carriers of the fully penetrant E280A mutation in the presenilin-1 (PSEN1) gene. Affected carriers with ages at...[Show more]

CollectionsANU Research Publications
Date published: 2015
Type: Journal article
Source: Molecular Psychiatry
DOI: 10.1038/mp.2015.177


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