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Title

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
TREM2
Genetic association
p.R47H
Rare variant
Issue Date13-Sep-2013
PublisherElsevier
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
URIhttp://hdl.handle.net/10261/109014
DOI10.1016/j.neurobiolaging.2013.08.011
ISSN0197-4580
E-ISSN1558-1497
Appears in Collections:(IBV) Artículos
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