Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy

Neurology. 2003 Aug 12;61(3):407-9. doi: 10.1212/01.wnl.0000073140.25533.90.

Abstract

Recent reports are inconclusive in showing that the Q7R polymorphism of the novel Saitohin gene, nested in intron 9 of the tau gene, is associated with AD. The authors show that this polymorphism is in complete linkage disequilibrium with the extended tau H1/H2 haplotype and that the Q variant and QQ genotype of Q7R are strongly associated with progressive supranuclear palsy, implicating it as a possibly important pathogenic candidate.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Case-Control Studies
  • DNA Mutational Analysis
  • Europe
  • Gene Frequency
  • Genetic Linkage*
  • Genotype
  • Haplotypes
  • Humans
  • Introns / genetics
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • Supranuclear Palsy, Progressive / genetics*
  • White People / genetics
  • tau Proteins / genetics*

Substances

  • STH protein, human
  • tau Proteins