R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.

doi:10.1016/j.jalz.2014.05.1751

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Article

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Nov 2014

Slattery Catherine F, Beck Jonathan A, Harper Lorna, Adamson Gary, Abdi Zeinab, Uphill James, Campbell Tracy, Druyeh Ron, Mahoney Colin J, Rohrer Jonathan D, Kenny Janna, Lowe Jessica, Leung Kelvin K, Barnes Josephine, Clegg Shona L, Blair Melanie, Nicholas Jennifer M, Guerreiro Rita J, Rowe James B, Ponto Claudia, Zerr Inga, Kretzschmar Hans, Gambetti Pierluigi, Crutch Sebastian J, Warren Jason D, Rossor Martin N, Fox Nick C, Collinge John, Schott Jonathan M, Mead Simon

Abstract excerpt

BACKGROUND: Rare TREM2 variants are significant risk factors for Alzheimer's disease (AD). METHODS: We 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...

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Identifiers

PMID: 25160042
DOI: 10.1016/j.jalz.2014.05.1751
PMCID: PMC4627504

Genes

TREM2

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Source receipt: pubmed, retrieved 7 Sept 2026.

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