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Title: MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE epsilon 4 noncarriers: results from the dementia genetics Spanish consortium
Author: Pastor, Pau
Moreno Izco, Fermín
Clarimon Echavarria, Jordi
Ruiz, Agustín
Combarros, Onofre
Calero Lara, Miguel
López de Munain, Adolfo
Bullido, María Jesús
Martinez De Pancorbo, Marian
Carro Díaz, Eva
Antonell, Anna
Coto, Eliecer
Ortega Cubero, Sara
Hernandez, Isabel
Tárraga, Lluís
Boada Rovira, Mercè
Lleó Alonso, Alberto
Dols Icardo, Oriol
Kulisevsky Bojarski, Jaume  
Infante, Jon
Rábano, Alberto
Fernández Blázquez, Miguel Ángel
Valentí, Meritxell
Indakoetxea, Begoña
Barandiaran, Myriam
Gorostidi, Ana
Frank García, Ana
Sastre, Isabel
Lorenzo, Elena
Pastor, María A.
Elcoroaristizabal Martín, Xabier
Lennarz, Martina
Maier, Wolfgang
Rámirez, Alfredo
Serrano Ríos, Manuel
Lee, Susee E.
Sánchez Juan, Pascual
Vázquez Higuera, José Luis
Others: Instituto de Salud Carlos III
Universidad Pública de Navarra
Universidad del País Vasco
Universidad Autónoma de Madrid
Fundació ACE. Institut Català de Neurociències Aplicades
University of Bonn
University of California
Universitat de Barcelona
Universitat Autònoma de Barcelona
Universitat Oberta de Catalunya (UOC)
Keywords: A152T
Alzheimer's disease
frontotemporal dementia
genetic association
Issue Date: 29-Sep-2015
Publisher: Journal of Alzheimer's Disease
Citation: Pastor, P., Moreno, F., Clarimón, J., Ruiz, Agustín, Combarros, O., Calero, M., López De Munain, A., Bullido, M.J., De Pancorbo, M., Carro, E., Antonell, A., Coto, E., Ortega Cubero, S., Hernandez, I., Tárraga, L., Boada, M., Lleó, A., Dols Icardo, O., Kulisevsky, J., Vázquez Higuera, J.L., Infante, Jon, Rábano, A., Fernández Blázquez, M.A., Valentí, M., Indakoetxea, B., Barandiaran, M., Gorostidi, A., Frank García, A., Sastre, I., Lorenzo, E., Pastor, M., Elcoroaristizabal, X., Lennarz, M., Maier, W., Ramírez, A., Serrano Ríos, M., Lee, S.E. & Sánchez Juan, P. (2015). MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE epsilon 4 noncarriers: results from the dementia genetics Spanish consortium. Journal of Alzheimer's Disease, 49(2), 343-352. doi: 10.3233/JAD-150555
Project identifier: info:eu-repo/grantAgreement/SAF2010-22329-C02-01
info:eu-repo/grantAgreement/ PI12/00045
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Abstract: The MAPT H1 haplotype has been linked to several disorders, but its relationship with Alzheimer's disease (AD) remains controversial. A rare variant in MAPT (p.A152T) has been linked with frontotemporal dementia (FTD) and AD. We genotyped H1/H2 and p.A152T MAPT in 11,572 subjects from Spain (4,327 AD, 563 FTD, 648 Parkinson's disease (PD), 84 progressive supranuclear palsy (PSP), and 5,950 healthy controls). Additionally, we included 101 individuals from 21 families with genetic FTD. MAPT p.A152T was borderline significantly associated with FTD [odds ratio (OR)=2.03; p=0.063], but not with AD. MAPT H1 haplotype was associated with AD risk (OR=1.12; p=0.0005). Stratification analysis showed that this association was mainly driven by APOE epsilon4 noncarriers (OR=1.14; p=0.0025). MAPT H1 was also associated with risk for PD (OR=1.30; p=0.0003) and PSP (OR=3.18; p=8.59 × 10-8) but not FTD. Our results suggest that the MAPT H1 haplotype increases the risk of PD, PSP, and non-APOE epsilon4 AD.
Language: English
ISSN: 1387-2877MIAR

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