Strong association between Saitohin gene polymorphism and tau haplotype in the Polish population

Neurosci Lett. 2003 Sep 18;348(3):163-6. doi: 10.1016/s0304-3940(03)00788-2.

Abstract

The saitohin (STH) gene is located in intron 9 of the tau protein gene. It has been postulated that the R allele of Q7R polymorphism at the Saitohin gene is over-represented in the homozygous state in sporadic Alzheimer's disease (AD). Tau protein was implicated in AD pathophysiology and the tau gene haplotype is probably connected with sporadic late-onset Parkinson's disease (PD). We analyzed the STH polymorphism and tau gene haplotype in 100 clinically diagnosed AD cases, 100 PD cases and 100 age-matched healthy controls. We found that the R allele of the STH gene is associated with the H2 haplotype of tau in all cases. Additionally we observed no correlation between R allele frequency and AD or PD.

Publication types

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

MeSH terms

  • Aged
  • Alleles
  • Alzheimer Disease / genetics
  • Chi-Square Distribution
  • Female
  • Gene Frequency / genetics
  • Haplotypes / genetics*
  • Humans
  • Male
  • Parkinson Disease / genetics
  • Poland
  • Polymorphism, Genetic / genetics*
  • Statistics, Nonparametric
  • tau Proteins / genetics*

Substances

  • STH protein, human
  • tau Proteins