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

Gunnar Menzer, Tomas Müller-Thomsen, Wolfgang Meins, Antonella Alberici, Giuliano Binetti, Christoph Hock, Roger M. Nitsch, Gabriela Stoppe, Jochen Reiss, Ulrich Finckh

Research output: Contribution to journalArticle

Abstract

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 nondemented 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.

Original languageEnglish
Pages (from-to)179-182
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume105
Issue number2
DOIs
Publication statusPublished - Mar 8 2001

Keywords

  • APOE
  • Cat D
  • CTSD
  • Interactions

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

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    Menzer, G., Müller-Thomsen, T., Meins, W., Alberici, A., Binetti, G., Hock, C., Nitsch, R. M., Stoppe, G., Reiss, J., & Finckh, U. (2001). Non-replication of association between cathepsin D genotype and late onset alzheimer disease. American Journal of Medical Genetics - Neuropsychiatric Genetics, 105(2), 179-182. https://doi.org/10.1002/ajmg.1204