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PMID: 15297935 Published · ppublish English Comparative Study Journal Article Research Support, Non-U.S. Gov't

Linkage disequilibrium and association of MAPT H1 in Parkinson disease.

American journal of human genetics ·Vol. 75 ·No. 4 ·2004-10-00 ·Pages 669-77

Skipper L, Wilkes K, Toft M, Baker M, Lincoln S, Hulihan M, Ross OA, Hutton M, Aasly J, Farrer M

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.

MeSH Terms
Aged Aged, 80 and over Alleles Chromosome Mapping Cohort Studies DNA Primers Female Genetics, Population Haplotypes/genetics Humans Linkage Disequilibrium/genetics Male Middle Aged Nerve Tissue Proteins/genetics Norway Parkinson Disease/genetics Polymorphism, Single Nucleotide/genetics Sequence Analysis, DNA tau Proteins
Chemicals
DNA Primers MAPT protein, human Nerve Tissue Proteins tau Proteins
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Skipper Lisa
Laboratories of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Wilkes Kristen
Toft Mathias
Baker Matthew
Lincoln Sarah
Hulihan Mary
Ross Owen A
Hutton Mike
Aasly Jan
Farrer Matthew
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
DOI
10.1086/424492
Published
2004-10-00
Epub
2004-00-03
Pages
669-77
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1182054
Subset
IM
External Links
PubMed source DOI: 10.1086/424492 PMC Full Text View journal details
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