Linkage Disequilibrium and Association of MAPT H1 in Parkinson Disease

  • Skipper L
  • Wilkes K
  • Toft M
 et al. 
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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 as- sociated 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.

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  • Lisa Skipper

  • Kristen Wilkes

  • Mathias Toft

  • Matthew Baker

  • Sarah Lincoln

  • Mary Hulihan

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