Papassotiropoulos, A. and Bagli, M. and Kurz, A. and Kornhuber, J. and Förstl, H. and Maier, W. and Pauls, J. and Lautenschlager, N. and Heun, R.. (2000) A genetic variation of cathepsin D is a major risk factor for Alzheimer's disease. Annals of neurology, Vol. 47, H. 3. pp. 399-403.
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Official URL: http://edoc.unibas.ch/dok/A5257220
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Abstract
Cathepsin D (catD) is an intracellular acid protease possibly involved in Alzheimer's disease (AD)-related neurodegeneration through cleavage of amyloid precursor protein into amyloidogenic components. We studied whether an exonic polymorphism of the catD gene (C --< T [Ala --< Val] transition at position 224), which possibly influences pro-catD secretion and intracellular maturation of the enzyme, was associated with the risk for the development of AD in 127 demented patients and 184 controls. The catD*T allele was significantly overrepresented in demented patients (11.8%) compared with nondemented controls (4.9%). Carriers of the catD*T allele had a 3.1-fold increased risk for developing AD than noncarriers. Carriers of the apolipoprotein E (ApoE) epsilon4 allele (ApoE*4) had a 3.9-fold increased risk than non-carriers. The adjusted odds ratio for subjects with the ApoE*4 and the catD*T allele was 19.0 compared with subjects with neither of these two alleles. Our data confirm the results of a recently performed pilot study in an independent sample and suggest that the catD genotype is strongly associated with the risk for AD.
Faculties and Departments: | 05 Faculty of Science > Departement Biozentrum > Services Biozentrum > Life Sciences Training Facility (Papassotiropoulos) 07 Faculty of Psychology > Departement Psychologie > Ehemalige Einheiten Psychologie > Molecular Neuroscience (Papassotiropoulos) |
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UniBasel Contributors: | Papassotiropoulos, Andreas |
Item Type: | Article, refereed |
Article Subtype: | Research Article |
Publisher: | Wiley-Liss |
ISSN: | 0364-5134 |
Note: | Publication type according to Uni Basel Research Database: Journal article |
Related URLs: | |
Identification Number: |
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Last Modified: | 22 Mar 2012 14:19 |
Deposited On: | 22 Mar 2012 13:17 |
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