| Literature DB >> 26444794 |
Pau Pastor1,2,3, Fermín Moreno2,4, Jordi Clarimón2,5, Agustín Ruiz6, Onofre Combarros2,7, Miguel Calero2,6, Adolfo López de Munain2,4,8, Maria J Bullido2,9,10, Marian M de Pancorbo11, Eva Carro2,12, Anna Antonell13, Eliecer Coto14, Sara Ortega-Cubero1,2, Isabel Hernandez6, Lluís Tárraga6, Mercè Boada6, Alberto Lleó2,5, Oriol Dols-Icardo2,5, Jaime Kulisevsky2,5,15, José Luis Vázquez-Higuera2,7, Jon Infante2,7, Alberto Rábano2,16, Miguel Ángel Fernández-Blázquez17, Meritxell Valentí17, Begoña Indakoetxea2,4, Myriam Barandiarán2,4, Ana Gorostidi2,8, Ana Frank-García2,10,18, Isabel Sastre2,9,10, Elena Lorenzo1,2, María A Pastor2,19,20, Xabier Elcoroaristizabal11, Martina Lennarz21, Wolfang Maier21,22, Alfredo Rámirez21,23, Manuel Serrano-Ríos24, Suzee E Lee25, Pascual Sánchez-Juan2,7.
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 ɛ4 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 ɛ4 AD.Entities:
Keywords: A152T; Alzheimer’s disease; H1H2; MAPT; frontotemporal dementia; genetic association
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Year: 2016 PMID： 26444794 DOI： 10.3233/JAD-150555
Source DB: PubMed Journal: J Alzheimers Dis ISSN： 1387-2877 Impact factor: 4.472