Non-replication of association between cathepsin D genotype and late onset Alzheimer disease

Am J Med Genet. 2001 Mar 8;105(2):179-82. doi: 10.1002/ajmg.1204.


In two recent studies from Germany, a strong association was found between the allelic variant T of the amino acid substitution encoding polymorphism 224 C/T (A38V) in exon 2 of the cathepsin D gene (CTSD) and late onset Alzheimer disease (AD). Other studies from Europe and the USA revealed ambiguous results. Therefore, we performed an independent association study on CTSD and AD in a sample of 324 Caucasian patients from Germany, Switzerland, and Italy with late onset AD, and 302 non-demented controls. We could not confirm an association between CTSD genotype and AD, although there was a slight but not significant increase in frequency of the T allele and T carrier status in AD. Post hoc data analyses suggested that there might be a stronger effect of CTSD genotype on AD risk in males, and an interaction between CTSD and APOE genotypes in males but not females.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Age of Onset
  • Aged
  • Alleles
  • Alzheimer Disease / genetics*
  • Cathepsin D / genetics*
  • Female
  • Genotype*
  • Germany
  • Heterozygote
  • Humans
  • Italy
  • Male
  • Models, Statistical
  • Odds Ratio
  • Polymorphism, Genetic / genetics
  • Sex Factors
  • Switzerland


  • Cathepsin D