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 ∼90-kb interval of the 5′ end of the MAPT locus.
CITATION STYLE
Skipper, L., Wilkes, K., Toft, M., Baker, M., Lincoln, S., Hulihan, M., … Farrer, M. (2004). Linkage disequilibrium and association of MAPT H1 in Parkinson disease. American Journal of Human Genetics, 75(4), 669–677. https://doi.org/10.1086/424492
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