Association studies using novel polymorphisms in BACE1 and BACE2

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

doi:10.1097/00001756-200107030-00008

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 journal › Article › peer-review

43 Scopus citations

Abstract

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 language	English
Pages (from-to)	1799-1802
Number of pages	4
Journal	NeuroReport
Volume	12
Issue number	9
DOIs	https://doi.org/10.1097/00001756-200107030-00008
State	Published - 3 Jul 2001
Externally published	Yes

Keywords

Alzheimer's disease
BACE1
BACE2
Genotyping
Polymorphisms

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abstract = "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.",

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AU - Nowotny, Petra

AU - Kwon, Jennifer M.

AU - Chakraverty, Sumi

AU - Nowotny, Volker

AU - Morris, John C.

AU - Goate, Alison M.

PY - 2001/7/3

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N2 - 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.

AB - 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.

KW - Alzheimer's disease

KW - BACE1

KW - BACE2

KW - Genotyping

KW - Polymorphisms

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Association studies using novel polymorphisms in BACE1 and BACE2

Abstract

Keywords

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