Modulation of disease risk according to a cathepsin D / apolipoprotein E genotype in Parkinson's disease
| Autor: | Klaus Berger, Jörg T. Epplen, C. Fischer, Horst Przuntek, Stefan Böhringer, Thorsten Schulte, Rejko Krüger, Thomas Müller, Olaf Riess, Ludger Schöls |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Apolipoprotein E Parkinson's disease Genotype Cathepsin D Protein degradation Biology Pathogenesis Apolipoproteins E Gene Frequency medicine Humans Genetic Predisposition to Disease Allele Allele frequency Biological Psychiatry Aged Genetics Parkinson Disease Middle Aged medicine.disease Psychiatry and Mental health Neurology Immunology Female Neurology (clinical) |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 1435-1463 0300-9564 |
| DOI: | 10.1007/s00702-003-0832-x |
| Popis: | Aspartyl protease Cathepsin D (CTSD) has been suggested to play a role in the pathogenesis of sporadic Alzheimer's disease (AD) due to interference with protein degradation mechanisms. A C224T (A38V) polymorphism in exon 2 of the CTSD gene is reported to be associated with an increased risk for AD. The partially overlapping pathology between AD and Parkinson's disease (PD) led us to investigate the role of this polymorphism in PD. Using association studies in 457 German PD patients and 340 controls we found no evidence for direct association between the CTSD genotype and PD. However, stratification for the apolipoprotein E (APOE) epsilon4 allele suggests a protective effect of the CTSD T-allele in PD (OR = 0.24, p = 0.002). Our findings suggest interference of CTSD and APOE polymorphisms in the pathogenesis of PD, in the sense of modulating disease risk. |
| Databáze: | OpenAIRE |
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