title: Cathepsin D gene and the risk of Alzheimer's disease: a population-based study and meta-analysis.
abstract: 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.
authors.affiliation: Genetic Epidemiology Unit of the Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, The Netherlands.
authors.forename: M
authors.initials: M
authors.lastname: Schuur
authors.forename: M A
authors.initials: MA
authors.lastname: Ikram
authors.forename: J C
authors.initials: JC
authors.lastname: van Swieten
authors.forename: A
authors.initials: A
authors.lastname: Isaacs
authors.forename: J M
authors.initials: JM
authors.lastname: Vergeer-Drop
authors.forename: A
authors.initials: A
authors.lastname: Hofman
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: M M B
authors.initials: MM
authors.lastname: Breteler
authors.forename: C M
authors.initials: CM
authors.lastname: van Duijn
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D002402:Cathepsin D / Q000235:genetics*; D015331:Cohort Studies; D019317:Evidence-Based Medicine / Q000639:trends; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors
chemical_list: C533922:CTSD protein, human; D002402:Cathepsin D