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.

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Keywords Alzheimer's disease, Cathepsin D gene, Cohort study, Meta-analysis, Population-based
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Journal Neurobiology of Aging: age-related phenomena, neurodegeneration and neuropathology
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