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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 publication

DOI

10.1016/j.neurobiolaging.2009.10.011

Type

Journal article

Journal

Neurobiol Aging

Publication Date

09/2011

Volume

32

Pages

1607 - 1614

Keywords

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