Article
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 Dec 2015
Lill Christina M, Rengmark Aina, Pihlstrøm Lasse, Fogh Isabella, Shatunov Aleksey, Sleiman Patrick M, Wang Li-San, Liu Tian, Lassen Christina F, Meissner Esther, Alexopoulos Panos, Calvo Andrea, Chio Adriano, Dizdar Nil, Faltraco Frank, Forsgren Lars, Kirchheiner Julia, Kurz Alexander, Larsen Jan P, Liebsch Maria, Linder Jan, Morrison Karen E, Nissbrandt Hans, Otto Markus, Pahnke Jens, Partch Amanda, Restagno Gabriella, Rujescu Dan, Schnack Cathrin, Shaw Christopher E, Shaw Pamela J, Tumani Hayrettin, Tysnes Ole-Bjørn, Valladares Otto, Silani Vincenzo, van den Berg Leonard H, van Rheenen Wouter, Veldink Jan H, Lindenberger Ulman, Steinhagen-Thiessen Elisabeth, Teipel Stefan, Perneczky Robert, Hakonarson Hakon, Hampel Harald, von Arnim Christine A F, Olsen Jørgen H, Van Deerlin Vivianna M, Al-Chalabi Ammar, Toft Mathias, Ritz Beate, Bertram Lars
Abstract excerpt
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...