Title |
TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson’s disease
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Published in |
Molecular Neurodegeneration, June 2013
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DOI | 10.1186/1750-1326-8-19 |
Pubmed ID | |
Authors |
Sruti Rayaprolu, Bianca Mullen, Matt Baker, Timothy Lynch, Elizabeth Finger, William W Seeley, Kimmo J Hatanpaa, Catherine Lomen-Hoerth, Andrew Kertesz, Eileen H Bigio, Carol Lippa, Keith A Josephs, David S Knopman, Charles L White, Richard Caselli, Ian R Mackenzie, Bruce L Miller, Magdalena Boczarska-Jedynak, Grzegorz Opala, Anna Krygowska-Wajs, Maria Barcikowska, Steven G Younkin, Ronald C Petersen, Nilüfer Ertekin-Taner, Ryan J Uitti, James F Meschia, Kevin B Boylan, Bradley F Boeve, Neill R Graff-Radford, Zbigniew K Wszolek, Dennis W Dickson, Rosa Rademakers, Owen A Ross |
Abstract |
A rare variant in the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) gene has been reported to be a genetic risk factor for Alzheimer's disease by two independent groups (Odds ratio between 2.9-4.5). Given the key role of TREM2 in the effective phagocytosis of apoptotic neuronal cells by microglia, we hypothesized that dysfunction of TREM2 may play a more generalized role in neurodegeneration. With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 50% |
United Kingdom | 1 | 17% |
Spain | 1 | 17% |
Unknown | 1 | 17% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 5 | 83% |
Science communicators (journalists, bloggers, editors) | 1 | 17% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 4 | 1% |
Colombia | 2 | <1% |
Netherlands | 1 | <1% |
Korea, Republic of | 1 | <1% |
Spain | 1 | <1% |
Greece | 1 | <1% |
United States | 1 | <1% |
Philippines | 1 | <1% |
Unknown | 274 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 53 | 19% |
Researcher | 52 | 18% |
Student > Bachelor | 34 | 12% |
Student > Master | 31 | 11% |
Student > Doctoral Student | 17 | 6% |
Other | 46 | 16% |
Unknown | 53 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Neuroscience | 66 | 23% |
Agricultural and Biological Sciences | 44 | 15% |
Biochemistry, Genetics and Molecular Biology | 37 | 13% |
Medicine and Dentistry | 33 | 12% |
Pharmacology, Toxicology and Pharmaceutical Science | 7 | 2% |
Other | 30 | 10% |
Unknown | 69 | 24% |