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. 2001 Jul 3;12(9):1799-802.
doi: 10.1097/00001756-200107030-00008.

Association studies using novel polymorphisms in BACE1 and BACE2

P Nowotny  1 , J M Kwon, S Chakraverty, V Nowotny, J C Morris, A M Goate
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Association studies using novel polymorphisms in BACE1 and BACE2

P Nowotny et al. Neuroreport. .

Abstract

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.

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