Association studies using novel polymorphisms in BACE1 and BACE2
| Autor: | Petra Nowotny, Jennifer M. Kwon, Alison Goate, John C. Morris, Volker Nowotny, Sumi Chakraverty |
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| Rok vydání: | 2001 |
| Předmět: |
Male
Genotype Apolipoprotein E4 Gene Expression Regulation Enzymologic Exon Amyloid beta-Protein Precursor Apolipoproteins E Gene Frequency Alzheimer Disease mental disorders Gene expression Endopeptidases Amyloid precursor protein medicine Aspartic Acid Endopeptidases Humans Genetic Testing Allele Genotyping Gene Genetic association Aged Genetics Amyloid beta-Peptides Polymorphism Genetic biology General Neuroscience Exons medicine.disease Mutation biology.protein Female Alzheimer's disease Amyloid Precursor Protein Secretases |
| Zdroj: | Scopus-Elsevier |
| ISSN: | 0959-4965 |
| Popis: | The release of amyloid-beta peptide (Abeta) from beta-amyloid precursor protein (APP) requires cleavage by beta- and gamma-secretases. Several groups have identified a candidate for the beta-site APP-cleaving enzyme, BACE1, and its homologue BACE2. We sequenced the genes for BACE1 and BACE2 and found several polymorphisms in both genes. Genotyping a large cohort of AD cases and controls has shown no association between AD and the intronic polymorphism in BACE2 while there was a weak association between the BACE1 polymorphism in exon 5 and AD in those carrying the APOE epsilon4 allele. |
| Databáze: | OpenAIRE |
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