Article
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.
Human molecular genetics - 1 Nov 2005
Rademakers Rosa, Melquist Stacey, Cruts Marc, Theuns Jessie, Del-Favero Jurgen, Poorkaj Parvoneh, Baker Matt, Sleegers Kristel, Crook Richard, De Pooter Tim, Bel Kacem Samira, Adamson Jennifer, Van den Bossche Dirk, Van den Broeck Marleen, Gass Jennifer, Corsmit Ellen, De Rijk Peter, Thomas Natalie, Engelborghs Sebastiaan, Heckman Michael, Litvan Irene, Crook Julia, De Deyn Peter P, Dickson Dennis, Schellenberg Gerard D, Van Broeckhoven Christine, Hutton Michael L
Abstract excerpt
Two extended haplotypes exist across the tau gene-H1 and H2-with H1 consistently associated with increased risk of progressive supranuclear palsy (PSP). Using 15 haplotype tagging SNPs (htSNPs), capturing >95% of MAPT haplotype diversity, we performed association analysis in a US sample of 274 predominantly pathologically confirmed PSP patients and 424 matched control individuals. We found that PSP risk is...
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