Linkage disequilibrium and association of MAPT H1 in Parkinson disease |
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Authors: | Skipper Lisa Wilkes Kristen Toft Mathias Baker Matthew Lincoln Sarah Hulihan Mary Ross Owen A Hutton Mike Aasly Jan Farrer Matthew |
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Institution: | Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. |
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Abstract: | 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 approximately 90-kb interval of the 5' end of the MAPT locus. |
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