The -22c/t polymorphism in presenilin 1 gene is not connected with late-onset and early-onset familial Alzheimer's disease in Poland

J Neural Transm (Vienna). 2005 Jun;112(6):839-45. doi: 10.1007/s00702-004-0218-8. Epub 2004 Oct 12.

Abstract

The -22c/t polymorphism in the promoter of the presenilin 1 gene is associated with increased risk for Alzheimer's disease (AD) in some populations. It was shown that -22c allele is connected with two-fold decrease in promoter activity. We studied the impact of the polymorphism in groups of Polish late-onset and early-onset AD patients. Our results suggest that -22c/t polymorphism is not connected with AD in Polish population. The -22t allele showed a high degree of linkage disequilibrium with -2797 insertion of 13 bp. An additional -2923g/t polymorphism is also not connected with -22c/t and is not a risk factor for AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Alzheimer Disease / genetics*
  • Chromatography, High Pressure Liquid
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Poland / epidemiology
  • Polymorphism, Genetic
  • Polymorphism, Single-Stranded Conformational
  • Presenilin-1
  • Promoter Regions, Genetic

Substances

  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1