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.

Additional Metadata
Keywords Alzheimer's disease, Cathepsin D gene, Cohort study, Meta-analysis, Population-based
Persistent URL dx.doi.org/10.1016/j.neurobiolaging.2009.10.011, hdl.handle.net/1765/26622
Citation
Schuur, M., Ikram, M.A., van Swieten, J.C., Isaacs, A.J., Vergeer-Drop, J., Hofman, B., … van Duijn, C.M.. (2011). Cathepsin D gene and the risk of Alzheimer's disease: A population-based study and meta-analysis. Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology, 32(9), 1607–1614. doi:10.1016/j.neurobiolaging.2009.10.011