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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

Lookup NU author(s): Professor Ian McKeith, Emeritus Professor Robert Perry, Dr Christopher Morris

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Abstract

Previously we have shown that the H1c haplotype on the background of the H1 clade of haplotypes at the MAPT locus is associated with increased risk for progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and Alzheimer's disease (AD). Here we replicated the association with AD in an additional autopsy confirmed series. We show that this haplotype increases both the expression of total MAPT transcript as well as specifically increasing the proportion of 4 microtubule binding repeat containing transcripts. We discuss these findings both in terms of the problems facing the dissection of the etiologies of complex traits and the pathogenesis of the tauopathies.

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Author(s): Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J

Publication type: Article

Publication status: Published

Journal: Neurobiology of Disease

Year: 2007

Volume: 25

Issue: 3

Pages: 561-570

Print publication date: 01/03/2007

ISSN (print): 0969-9961

ISSN (electronic): 1095-953X

Publisher: Academic Press

URL: http://dx.doi.org/10.1016/j.nbd.2006.10.018

DOI: 10.1016/j.nbd.2006.10.018

PubMed id: 17174556

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