Journal
JOURNAL OF ALZHEIMERS DISEASE
Volume 49, Issue 2, Pages 343-352Publisher
IOS PRESS
DOI: 10.3233/JAD-150555
Keywords
A152T; Alzheimer's disease; frontotemporal dementia; genetic association; H1H2; MAPT
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Funding
- Spanish Ministry of Science and Innovation [SAF 2006-10126, SAF2010-22329-C02-01]
- UTE project FIMA
- Ministry of Science [SAF2010-15558]
- CIBERNED
- Grant: Consolider [CSD2010-00045]
- Instituto de Salud Carlos III [PI12/01311, PI12/03005, FIS PI12/02288, JPND-PI11/03028]
- [PI13/02434]
- [PI12/00045]
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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 epsilon 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 = 8.59x10-8) but not FTD. Our results suggest that the MAPT H1 haplotype increases the risk of PD, PSP, and non-APOE epsilon 4 AD.
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