English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/109014
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

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

AuthorsRuiz, Agustín; Dols-Icardo, Oriol; Bullido, Mª Jesús; Pastor, Pau; Rodríguez-Rodríguez, Eloy; López de Munain, Adolfo; de Pancorbo, Marian M.; Pérez-Tur, Jordi ; Álvarez, Victoria; Antonell, Anna; López-Arrieta, Jesús; Hernández, Isabel; Tárraga, Lluís; Boada, Mercè; Lleó, Alberto; Blesa, Rafael; Frank, Ana; Sastre, Isabel ; Razquin, Cristina; Ortega-Cubero, Sara; Lorenzo, Elena; Sánchez-Juan, Pascual; Combarros, Onofre; Moreno, Fermín; Gorostidi, Ana; Baquero, Miquel; Coto, Eliecer; Sánchez-Valle, Raquel; Clarimón, Jordi
KeywordsAlzheimer's disease
Frontotemporal dementia
Genetic association
Rare variant
Issue Date13-Sep-2013
CitationNeurobiology of Aging 35(2): 444.e1-4 (2014)
AbstractA 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, rare recessive mutations have been associated with frontotemporal dementia (FTD). We aimed to investigate the role of p.R47H variant in AD and FTD through a multi-center study comprising 3,172 AD and 682 FTD patients and 2,169 healthy controls from Spain. We found that 0.6% of AD cases carried this variant compared to 0.1% of controls (odds ratio [OR]=4.12, 95% confidence interval [CI]: 1.21-14.00, P=0.014). A meta-analysis comprising 32,598 subjects from four previous studies demonstrated the large effect of the p.R47H variant in AD risk (OR=4.11, 95% CI: 2.99-5.68, P=5.27x10-18). We did not find an association between p.R47H and age of onset of AD or family history of dementia. Finally, none of the FTD patients harbored this genetic variant. These data strongly support the important role of p.R47H in AD risk and suggest that this rare genetic variant is not related to FTD.
Description4 páginas, 1 figura, a tabla. Los autores pertenecen a The dementia genetic Spanish consortium (DEGESCO).
Publisher version (URL)http://dx.doi.org/10.1016/j.neurobiolaging.2013.08.011
Appears in Collections:(IBV) Artículos
Files in This Item:
File Description SizeFormat 
TREM2 Manuscript_Neurobiol Aging.pdf127,32 kBAdobe PDFThumbnail
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.