Article
Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants.
PloS one - 1 Jan 2017
Rehker Jan, Rodhe Johanna, Nesbitt Ryan R, Boyle Evan A, Martin Beth K, Lord Jenny, Karaca Ilker, Naj Adam, Jessen Frank, Helisalmi Seppo, Soininen Hilkka, Hiltunen Mikko, Ramirez Alfredo, Scherer Martin, Farrer Lindsay A, Haines Jonathan L, Pericak-Vance Margaret A, Raskind Wendy H, Cruchaga Carlos, Schellenberg Gerard D, Joseph Bertrand, Brkanac Zoran
Abstract excerpt
The accumulation of amyloid beta (Aβ) peptide (Amyloid cascade hypothesis), an APP protein cleavage product, is a leading hypothesis in the etiology of Alzheimer's disease (AD). In order to identify additional AD risk genes, we performed targeted sequencing and rare variant burden association study for nine candidate genes involved in the amyloid metabolism in 1886 AD cases and 1700 controls. We identified a...
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