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 Citations (Scopus)

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 ∼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
Volume75
Issue number4
DOIs
StatePublished - Oct 2004

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Linkage Disequilibrium
Haplotypes
Parkinson Disease
Tauopathies
Progressive Supranuclear Palsy
Genetic Linkage
Population Genetics
Norway
Single Nucleotide Polymorphism
Alleles

ASJC Scopus subject areas

  • Genetics

Cite this

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

Linkage disequilibrium and association of MAPT H1 in Parkinson disease. / Skipper, Lisa; Wilkes, Kristen; Toft, Mathias; Baker, Matthew; Lincoln, Sarah; Hulihan, Mary; Ross, Owen A; Hutton, Mike; Aasly, Jan; Farrer, Matthew.

In: American Journal of Human Genetics, Vol. 75, No. 4, 10.2004, p. 669-677.

Research output: Contribution to journalArticle

Skipper, L, Wilkes, K, Toft, M, Baker, M, Lincoln, S, Hulihan, M, Ross, OA, Hutton, M, Aasly, J & Farrer, M 2004, 'Linkage disequilibrium and association of MAPT H1 in Parkinson disease', American Journal of Human Genetics, vol. 75, no. 4, pp. 669-677. https://doi.org/10.1086/424492
Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M et al. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. American Journal of Human Genetics. 2004 Oct;75(4):669-677. https://doi.org/10.1086/424492
Skipper, Lisa ; Wilkes, Kristen ; Toft, Mathias ; Baker, Matthew ; Lincoln, Sarah ; Hulihan, Mary ; Ross, Owen A ; Hutton, Mike ; Aasly, Jan ; Farrer, Matthew. / Linkage disequilibrium and association of MAPT H1 in Parkinson disease. In: American Journal of Human Genetics. 2004 ; Vol. 75, No. 4. pp. 669-677.
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