Linkage disequilibrium and association of MAPT H1 in Parkinson disease

Lisa Skipper, Kristen Wilkes, Mathias Toft, Matthew Baker, Sarah Lincoln, Mary Hulihan, Owen A. Ross, Mike Hutton, Jan Aasly, Matthew Farrer

Research output: Contribution to journalArticle

117 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)669-677
Number of pages9
JournalAmerican journal of human genetics
Issue number4
StatePublished - Oct 2004

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Skipper, L., Wilkes, K., Toft, M., Baker, M., Lincoln, S., Hulihan, M., Ross, O. A., Hutton, M., Aasly, J., & Farrer, M. (2004). Linkage disequilibrium and association of MAPT H1 in Parkinson disease. American journal of human genetics, 75(4), 669-677.