Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 75, Issue 4, Pages 669-677Publisher
CELL PRESS
DOI: 10.1086/424492
Keywords
-
Categories
Ask authors/readers for more resources
The MAPT H1 haplotype has been associated with four-repeat (4R) tauopathies, including progressive supranuclear palsy, corticobasal degeneration, and argyrophilic grain disease. More controversial is that the same haplotype has been associated with Parkinson disease (PD). Using H1-specific single-nucleotide polymorphisms, we demonstrate that MAPT H1 is a misnomer and consists of a family of recombining H1 alleles. Population genetics, linkage disequilibrium, and association analyses have shown that specific MAPT H1 subhaplotypes are preferentially associated with Parkinson disease. Using a sliding scale of MAPT H1-specific haplotypes - in age/sex-matched PD cases and controls from central Norway - we have refined the disease association to within an similar to90-kb interval of the 5' end of the MAPT locus.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available