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Human Molecular Genetics Advance Access originally published online on July 6, 2005
Human Molecular Genetics 2005 14(16):2399-2404; doi:10.1093/hmg/ddi241
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

The H1c haplotype at the MAPT locus is associated with Alzheimer's disease

A.J. Myers1, M. Kaleem1, L. Marlowe1, A.M. Pittman2,3, A.J. Lees2,4, H.C. Fung1,2,5, J. Duckworth1, D. Leung1, A. Gibson6, C.M. Morris6, R. de Silva2,3 and J. Hardy1,2,3,*

1Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892-3707, USA, 2Reta Lila Weston Institute of Neurological Studies, University College London, Windeyer Building, 46 Cleveland Street, London W1T 4JF, UK, 3Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK, 4Sara Koe PSP Research Centre, Institute of Neurology, 1 Wakefield Street, London WC1N 1PJ, UK, 5Second Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, 199 Tung Hwa North Road, Taipei 10591, Taiwan and 6Institute for Ageing and Health, MRC Building, Newcastle General Hospital, Westgate Road, Newcastle-upon-Tyne NE4 6BE, UK

* To whom correspondence should be addressed at: Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892-3707, USA. Tel: +1 3014516081; Fax: +1 3014800335; Email: hardyj{at}mail.nih.gov

Received April 7, 2005; Revised May 31, 2005; Accepted June 29, 2005

Although it is clear that microtubule associated protein tau (MAPT) is involved in Alzheimer's disease (AD) pathology, it has not been clear whether it is involved genetically. We have recently examined the MAPT locus in progressive supranuclear palsy and found that a haplotype (H1c) on the background of the well-described H1 clade is associated with PSP. Here we report that the same haplotype is associated with the risk of AD in two autopsy confirmed series of cases with ages at death >65 years.


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