Article
Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.
Journal of Alzheimer's disease : JAD - 1 Jan 2020
Olive Claudia, Ibanez Laura, Farias Fabiana H Geraldo, Wang Fengxian, Budde John P, Norton Joanne B, Gentsch Jen, Morris John C, Li Zeran, Dube Umber, Del-Aguila Jorge, Bergmann Kristy, Bradley Joseph, Benitez Bruno A, Harari Oscar, Fagan Anne, Ances Beau, Cruchaga Carlos, Fernandez Maria Victoria
Abstract excerpt
BACKGROUND: Rare variants in PLCG2 (p.P522R), ABI3 (p.S209F), and TREM2 (p.R47H, p.R62H) have been associated with late onset Alzheimer's disease (LOAD) risk in Caucasians. After the initial report, several studies have found positive results in cohorts of different ethnic background and with different phenotype. OBJECTIVE: In this study, we aim to evaluate the association of rare coding variants in PLCG2, ABI3,...
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