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| Título : | MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE epsilon 4 noncarriers: results from the dementia genetics Spanish consortium |
| Autoría: | Pastor, Pau Moreno Izco, Fermín Clarimón, 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, Alberto Dols Icardo, Oriol Kulisevsky, Jaime 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 |
| Otros: | 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 (UB) Universitat Autònoma de Barcelona (UAB) Universitat Oberta de Catalunya (UOC) |
| Citación : | 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 |
| Resumen : | 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. |
| Palabras clave : | A152T enfermedad de Alzheimer demencia frontotemporal asociación genética H1H2 MAPT |
| DOI: | 10.3233/JAD-150555 |
| Tipo de documento: | info:eu-repo/semantics/article |
| Fecha de publicación : | 29-sep-2015 |
| Aparece en las colecciones: | Articles Articles cientÍfics |
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| Fichero | Descripción | Tamaño | Formato | |
|---|---|---|---|---|
| MAPT1.pdf Restricted Access | 203,06 kB | Adobe PDF | Visualizar/Abrir Pedir una copia |
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