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Hum Mol Genet. 2005 Aug 15;14(16):2399-404. Epub 2005 Jul 6.

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

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  • 1Laboratory of Neurogenetics, National Institute on Aging, National Institute of Health, Bethesda, MD 20892-3707, USA.


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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