Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia

E Cuyvers, K Bettens, S Philtjens… - Neurobiology of …, 2014 - Elsevier
Homozygous mutations in exon 2 of TREM2, a gene involved in Nasu-Hakola disease, can
cause frontotemporal dementia (FTD). Moreover, a rare TREM2 exon 2 variant (p. R47H) …

TREM2 variants and neurodegenerative diseases: a systematic review and meta-analysis

SL Zhou, CC Tan, XH Hou, XP Cao… - Journal of Alzheimer's …, 2019 - content.iospress.com
TREM2 (triggering receptor expressed on myeloid cells 2) gene variants were reported to
increase the risk of Alzheimer's disease (AD) and even other neurodegenerative diseases …

Assessing the role of the TREM2 p. R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

A Ruiz, O Dols-Icardo, MJ Bullido, P Pastor… - Neurobiology of …, 2014 - Elsevier
A non-synonymous genetic rare variant, rs75932628-T (p. R47H), in the TREM2 gene has
recently been reported to be a strong genetic risk factor for Alzheimer's disease (AD). Also …

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease

CM Lill, A Rengmark, L Pihlstrøm, I Fogh… - Alzheimer's & …, 2015 - Wiley Online Library
A rare variant in TREM2 (p. R47H, rs75932628) was recently reported to increase the risk of
Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, ie …

TREM2 Variants in Alzheimer's Disease

R Guerreiro, A Wojtas, J Bras… - … England Journal of …, 2013 - Mass Medical Soc
Background Homozygous loss-of-function mutations in TREM2, encoding the triggering
receptor expressed on myeloid cells 2 protein, have previously been associated with an …

Rare TREM2 variants associated with Alzheimer's disease display reduced cell surface expression

DW Sirkis, LW Bonham, RE Aparicio, EG Geier… - Acta Neuropathologica …, 2016 - Springer
Rare variation in TREM2 has been associated with greater risk for Alzheimer's disease (AD).
TREM2 encodes a cell surface receptor expressed on microglia and related cells, and the …

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

CF Slattery, JA Beck, L Harper… - Alzheimer's & …, 2014 - Wiley Online Library
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 …

The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk

BV Hooli, AR Parrado, K Mullin, WK Yip, T Liu… - Neurology, 2014 - AAN Enterprises
Objectives: Recently, 2 independent studies reported that a rare missense variant,
rs75932628 (R47H), in exon 2 of the gene encoding the “triggering receptor expressed on …

Coding variants in TREM2 increase risk for Alzheimer's disease

SC Jin, BA Benitez, CM Karch, B Cooper… - Human molecular …, 2014 - academic.oup.com
The triggering receptor expressed on myeloid 2 (TREM2) is an immune phagocytic receptor
expressed on brain microglia known to trigger phagocytosis and regulate the inflammatory …

Lack of genetic association between TREM2 and late-onset Alzheimer's disease in a Japanese population

A Miyashita, Y Wen, N Kitamura… - Journal of …, 2014 - content.iospress.com
Rare non-synonymous variants of TREM2 have recently been shown to be associated with
Alzheimer's disease (AD) in Caucasians. We here conducted a replication study using a well …