Polymorphisms of the human apolipoprotein E promoter and bleomycin hydrolase gene: risk factors for Alzheimer's dementia?

Neurosci Lett. 1999 Oct 15;274(1):37-40. doi: 10.1016/s0304-3940(99)00662-x.


In addition to the apolipoprotein E (ApoE) tri-allele polymorphism, genetic variants of the apolipoprotein E promoter (-491A/T) and the bleomycin hydrolase (BH-PEN) gene have also been proposed as genetic risk factors for Alzheimer's dementia (AD). Since reports about the relevance of these polymorphisms for the pathogenesis of AD have been contradictory, we performed an association study with some modifications. First, the control group in this study was made up of non-demented psychiatric inpatients, rather than healthy subjects. This procedure allows the specificity of the relationship between a given genotype and AD (as opposed to other psychiatric disorders) to be determined. Second, as an alternative to preexisting relatively time consuming techniques, BH-PEN polymorphism was determined using a simplified method based on PCR genotyping. We found a significant linkage disequilibrium between the -491A/T and ApoE polymorphisms. However, no direct association was observed between the -491A/T or BH-PEN polymorphism and AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics*
  • Cysteine Endopeptidases / genetics*
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Linkage Disequilibrium
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics*
  • Risk Factors


  • Apolipoproteins E
  • Genetic Markers
  • Cysteine Endopeptidases
  • bleomycin hydrolase