Association studies using novel polymorphisms in BACE1 and BACE2

Petra Nowotny, Jennifer M. Kwon, Sumi Chakraverty, Volker Nowotny, John C. Morris, Alison M. Goate

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


The release of amyloid-β peptide (Aβ) from β-amyloid precursor protein (APP) requires cleavage by β- and γ-secretases. Several groups have identified a candidate for the β-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 ε4 allele.

Original languageEnglish
Pages (from-to)1799-1802
Number of pages4
Issue number9
StatePublished - Jul 3 2001


  • Alzheimer's disease
  • BACE1
  • BACE2
  • Genotyping
  • Polymorphisms


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