Cathepsin D polymorphism in Italian elderly subjects with sporadic late-onset Alzheimer's disease

Dement Geriatr Cogn Disord. 2003;16(3):151-5. doi: 10.1159/000071003.


Alzheimer's disease (AD) is the most frequent cause of dementia in elderly people. Different pathological pathways have been involved in the development of late-onset AD. Among them, numerous genes have been proposed as pathogenetic factors acting independently or interactively. It has been suggested that the cathepsin D gene (CTSD) is associated with late-onset AD. We analyzed an exonic polymorphism of the CTSD gene [C-->T (Ala-->Val) transition at position 224] in 142 AD patients and 120 controls. Our data indicate no significant association between this polymorphism and the risk of AD. Likewise there was no association between CTSD polymorphism and the apolipoprotein E genotype in the risk of developing AD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • Alleles
  • Alzheimer Disease / epidemiology*
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics
  • Case-Control Studies
  • Cathepsin D / genetics*
  • Cytosine
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Polymorphism, Genetic*
  • Thymine


  • Apolipoproteins E
  • Cytosine
  • Cathepsin D
  • Thymine