| Literature DB >> 17174556 |
Amanda J Myers1, Alan M Pittman, Alice S Zhao, Kristen Rohrer, Mona Kaleem, Lauren Marlowe, Andrew Lees, Doris Leung, Ian G McKeith, Robert H Perry, Chris M Morris, John Q Trojanowski, Christopher Clark, Jason Karlawish, Steve Arnold, Mark S Forman, Vivianna Van Deerlin, Rohan de Silva, John Hardy.
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.Entities:
Mesh：
Substances：
Year: 2006 PMID： 17174556 DOI： 10.1016/j.nbd.2006.10.018
Source DB: PubMed Journal: Neurobiol Dis ISSN： 0969-9961 Impact factor: 5.996