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- Catherine F Slattery, Jonathan A Beck, Lorna Harper, Gary Adamson, Zeinab Abdi, James Uphill, Tracy Campbell, Ron Druyeh, Colin J Mahoney, Jonathan D Rohrer, Janna Kenny, Jessica Lowe, Kelvin K Leung, Josephine Barnes, Shona L Clegg, Melanie Blair, Jennifer M Nicholas, Rita J Guerreiro, James B Rowe, Claudia Ponto, Inga Zerr, Hans Kretzschmar, Pierluigi Gambetti, Sebastian J Crutch, Jason D Warren, Martin N Rossor, Nick C Fox, John Collinge, Jonathan M Schott, and Simon Mead.
- Department of Neurodegenerative Disease, Dementia Research Centre, UCL Institute of Neurology, London, UK.
- Alzheimers Dement. 2014 Nov 1;10(6):602-608.e4.
BackgroundRare TREM2 variants are significant risk factors for Alzheimer's disease (AD).MethodsWe used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt-Jakob disease (CJD).ResultsWe confirm only p.R47H as a risk factor for AD (odds ratio or OR = 2.19; 95% confidence interval or CI = 1.04-4.51; P = .03). p.R47H does not significantly alter risk for frontotemporal dementia (OR = 0.81), variant or sporadic CJD (OR = 1.06 95%CI = 0.66-1.69) in our cohorts. Individuals with p.R47H associated AD (n = 12) had significantly earlier symptom onset than individuals with no TREM2 variants (n = 551) (55.2 years vs. 61.7 years, P = .02). We note that heterozygous p.R47H AD is memory led and otherwise indistinguishable from "typical" sporadic AD.ConclusionWe find p.R47H is a risk factor for AD, but not frontotemporal dementia or prion disease.Copyright © 2014 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.
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