The Q7R polymorphism in the saitohin gene is rare in a southern Chinese population

Neurol Sci. 2008 Dec;29(6):431-4. doi: 10.1007/s10072-008-1014-2. Epub 2008 Oct 10.

Abstract

Saitohin (STH) is thought to be involved in the pathogenesis of many neurodegenerative diseases. Recent reports were inconclusive in showing that the Q7R polymorphism in the STH gene is associated with late-onset Alzheimer's disease (LOAD). We examined the Q7R polymorphism in 500 subjects (LOAD: 280; controls: 220) from Guangdong, China, by the Restriction Fragment Length Polymorphism method. Only one QR heterozygous and no RR homozygous variants were found. Our results suggest that the frequency of the R allele in the Han population is lower than that in Caucasian and African populations. The Q7R polymorphism is unlikely to contribute significantly to Alzheimer's disease susceptibility of the Han population in south China and the variation of the Q7R polymorphism among different ethnic groups might account for the varied clinical manifestations of some STH-related diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / ethnology*
  • Alzheimer Disease / genetics*
  • Asian People / ethnology
  • Asian People / genetics
  • China / ethnology
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genetic Variation
  • Haplotypes
  • Humans
  • Male
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Restriction Fragment Length / genetics
  • tau Proteins / genetics*

Substances

  • Genetic Markers
  • STH protein, human
  • tau Proteins