Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis

M Schuur, M A Ikram, J C van Swieten, A Isaacs, J M Vergeer-Drop, A Hofman, B A Oostra, M M B Breteler, C M van Duijn*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Cathepsin D (CTSD) is a gene involved in amyloid precursor protein processing and is considered a candidate for Alzheimer's disease (AD). The aim of the current study was to examine if variation in CTSD increases the risk of AD. We performed a candidate-gene analysis in a population-based cohort study (N=7983), and estimated the effect of CTSD on the risk of AD. Additionally, a large meta-analysis was performed incorporating our data and previously published data. The T-allele of CTSD rs17571 was associated with an increased risk of AD (p-value 0.007) in the Rotterdam Study. This association was predominantly found in APOE ε4 noncarriers. A meta-analysis of previously published data showed a significantly increased risk of AD in carriers of the T-allele of rs17571 (OR 1.22, 95% CI 1.03-1.44), irrespective of APOE ε4 carrier status. This study adds to the evidence that CTSD increases the risk of AD, although the effect size is moderate.

Original languageEnglish
Pages (from-to)1607-14
Number of pages8
JournalNeurobiology of Aging
Issue number9
Publication statusPublished - Sept 2011
Externally publishedYes


  • Aged
  • Aged, 80 and over
  • Alzheimer Disease/epidemiology
  • Case-Control Studies
  • Cathepsin D/genetics
  • Cohort Studies
  • Evidence-Based Medicine/trends
  • Female
  • Genetic Predisposition to Disease/epidemiology
  • Humans
  • Longitudinal Studies
  • Male
  • Polymorphism, Single Nucleotide/genetics
  • Risk Factors

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