No association between a polymorphism in the presenilin 1 gene and dementia with Lewy bodies

Neuroreport. 1997 Nov 10;8(16):3637-9. doi: 10.1097/00001756-199711100-00042.

Abstract

The discovery of mis-sense mutations linking the presenilin-1 (PS-1) gene on chromosome 14 to Alzheimer's disease (AD) has lead to a thorough investigation of this locus. The PS-1 gene contains a polymorphism creating two alleles. The most common allele, allele 1, has been linked with late-onset AD. Given the clinical and pathological overlaps between AD and dementia with Lewy bodies we genotyped 46 pathologically confirmed cases of dementia with Lewy bodies for the PS-1 polymorphism and compared the allelic frequencies with 87 age-matched control cases and 103 age-matched AD cases. No association between dementia with Lewy bodies and PS-1 allele 1 was found either in the group as a whole, or in the group stratified according to dosage of the epsilon4 allele of the apolipoprotein E gene. We suggest that either the presenilin polymorphism has no effect on dementia with Lewy bodies or that any linkage is precluded by another, more influential, locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Apolipoprotein E4
  • Apolipoproteins E / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14
  • Dementia / genetics*
  • Dementia / pathology
  • Genotype
  • Humans
  • Lewy Bodies / genetics
  • Lewy Bodies / pathology
  • Membrane Proteins / genetics*
  • Parkinson Disease / genetics*
  • Parkinson Disease / pathology
  • Polymorphism, Genetic*
  • Presenilin-1

Substances

  • Apolipoprotein E4
  • Apolipoproteins E
  • Membrane Proteins
  • PSEN1 protein, human
  • Presenilin-1