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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 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: J Alzheimers Dis. 2016; 49(2):343-52
Editorial: IOS Press
Año de publicación: 2016
Nº de páginas: 10
Tipo de publicación: Artículo de Revista
ONOFRE COMBARROS PASCUAL
LÓPEZ DE MUNAIN, ADOLFO
BULLIDO, MARIA J.
PANCORBO, MARIAN M. DE
ORTEGA CUBERO, SARA
JOSE LUIS VAZQUEZ HIGUERA
JON INFANTE CEBERIO
PASCUAL SANCHEZ JUAN