No association of the -48CT polymorphism of the presenilin 1 gene with Alzheimer disease in a late-onset sporadic population

J Neural Transm (Vienna). 2002 Jul;109(7-8):1023-7. doi: 10.1007/s007020200085.

Abstract

Recently, a polymorphism located in the promoter of the presenilin 1 gene was associated with early-onset Alzheimer disease (EOAD). To determine if this polymorphism is also a risk factor for late-onset Alzheimer's disease (LOAD), we analysed its potential impact in a French population of LOAD patients only. Genotype and allelic distributions of the -48CT polymorphism were similar for controls and AD patients. Our result suggests that this polymorphism may not influence the development of LOAD. Other studies need to be undertaken to confirm this association restricting the impact of this polymorphism to EOAD patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Alleles
  • Alzheimer Disease / epidemiology*
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Polymorphism, Genetic / genetics*
  • Presenilin-1
  • Promoter Regions, Genetic / genetics
  • Reference Values

Substances

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