Linkage disequilibrium and association of MAPT H1 in Parkinson disease.
case_control · Level III
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- Record sourced from PubMed, PMID 15297935.
- Also identified by PMC identifier 1182054.
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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.
Medical subject headings
- Alleles
- Haplotypes
- Linkage Disequilibrium
- Nerve Tissue Proteins
- Parkinson Disease