Linkage disequilibrium and association of MAPT H1 in Parkinson disease

Am J Hum Genet. 2004 Oct;75(4):669-77. doi: 10.1086/424492. Epub 2004 Aug 3.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

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


  • DNA Primers
  • MAPT protein, human
  • Nerve Tissue Proteins
  • tau Proteins