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

Journal article
Authors Christina M Lill
Aina Rengmark
Lasse Pihlstrøm
Isabella Fogh
Aleksey Shatunov
Patrick M Sleiman
Li-San Wang
Tian Liu
Christina F Lassen
Esther Meissner
Panos Alexopoulos
Andrea Calvo
Adriano Chio
Nil Dizdar
Frank Faltraco
Lars Forsgren
Julia Kirchheiner
Alexander Kurz
Jan P Larsen
Maria Liebsch
Jan Linder
Karen E Morrison
Hans Nissbrandt
Markus Otto
Jens Pahnke
Amanda Partch
Gabriella Restagno
Dan Rujescu
Cathrin Schnack
Christopher E Shaw
Pamela J Shaw
Hayrettin Tumani
Ole-Bjørn Tysnes
Otto Valladares
Vincenzo Silani
Leonard H van den Berg
Wouter van Rheenen
Jan H Veldink
Ulman Lindenberger
Elisabeth Steinhagen-Thiessen
Stefan Teipel
Robert Perneczky
Hakon Hakonarson
Harald Hampel
Christine A F von Arnim
Jørgen H Olsen
Vivianna M Van Deerlin
Ammar Al-Chalabi
Mathias Toft
Beate Ritz
Lars Bertram
Published in Alzheimer's & dementia : the journal of the Alzheimer's Association
Volume 11
Issue 12
Pages 1407-16
ISSN 1552-5279
Publication year 2015
Published at Institute of Neuroscience and Physiology, Department of Pharmacology
Pages 1407-16
Language en
Links dx.doi.org/10.1016/j.jalz.2014.12.0...
Subject categories Neuroscience

Abstract

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, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). Here we comprehensively assessed TREM2 rs75932628 for association with these diseases in a total of 19,940 previously untyped subjects of European descent. These data were combined with those from 28 published data sets by meta-analysis. Furthermore, we tested whether rs75932628 shows association with amyloid beta (Aβ42) and total-tau protein levels in the cerebrospinal fluid (CSF) of 828 individuals with AD or mild cognitive impairment. Our data show that rs75932628 is highly significantly associated with the risk of AD across 24,086 AD cases and 148,993 controls of European descent (odds ratio or OR = 2.71, P = 4.67 × 10(-25)). No consistent evidence for association was found between this marker and the risk of FTLD (OR = 2.24, P = .0113 across 2673 cases/9283 controls), PD (OR = 1.36, P = .0767 across 8311 cases/79,938 controls) and ALS (OR = 1.41, P = .198 across 5544 cases/7072 controls). Furthermore, carriers of the rs75932628 risk allele showed significantly increased levels of CSF-total-tau (P = .0110) but not Aβ42 suggesting that TREM2's role in AD may involve tau dysfunction.

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