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MAPT H1 haplotype is associated with late-onset alzheimer's disease risk in apoe E 4 noncarriers: results from the dementia genetics spanish consortium

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 4 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 4 AD.

 Fuente: Journal of Alzheimer's Disease, 2016; 49(2), 343-52

 Editorial: IOS Press

 Fecha de publicación: 01/10/2016

 Nº de páginas: 10

 Tipo de publicación: Artículo de Revista

 DOI: 10.3233/JAD-150555

 ISSN: 1387-2877,1875-8908

 Url de la publicación: https://doi.org/10.3233/JAD-150555

Autoría

PASTOR, PAU

MORENO, FERMÍN

CLARIMÓN, JORDI

RUIZ, AGUSTÍN

ONOFRE COMBARROS PASCUAL

CALERO, MIGUEL

LÓPEZ DE MUNAIN, ADOLFO

BULLIDO, MARIA J.

PANCORBO, MARIAN M. DE

CARRO, EVA

ANTONELL, ANNA

COTO, ELIECER

ORTEGA CUBERO, SARA

HERNÁNDEZ, ISABEL

TÁRRAGA, LLUÍS

BOADA, MERCÉ

LLEÓ, ALBERTO

JOSE LUIS VAZQUEZ HIGUERA

PASCUAL SANCHEZ JUAN