Lack of association between the polymorphisms of beta-site APP-cleaving enzyme 2 (BACE2) 5'-flanking region and sporadic Alzheimer's disease.
Brain Res
; 1257: 10-5, 2009 Feb 27.
Article
en En
| MEDLINE
| ID: mdl-19124009
ABSTRACT
Amyloid beta-peptide (A beta) plays a central role in the pathogenesis of Alzheimer's disease (AD). A beta is produced by sequential cleavage of the amyloid precursor protein (APP) by two enzymes referred to as beta- and gamma-secretase. beta-secretase is of more importance, as it catalyses the rate-limiting step in the production of A beta. Although beta-site APP-cleaving enzyme 1 (BACE1) is known to cleave APP at the beta-secretase site as required for the generation of A beta, the role of its homologue BACE2 is controversial. For seeking the correlation of the BACE2 promoter with sporadic AD (SAD), we performed a case-control study in a Chinese Han population. In the study, we sequenced the 2641 bp fragment of the 5'-flanking region of BACE2 gene and found three polymorphisms which are -320C/- (rs11316732), -1541A/T (rs9975138) and -1904C/T (rs28656880). Definitive genotyping these markers and apolipoprotein E (APOE) polymorphism were surveyed using restriction enzyme digestion and direct sequencing in 359 SAD patients and 334 controls. We failed to find any association between these three polymorphisms and SAD even after statistical adjustment for age, gender and APOE epsilon 4 status. Our data do not support that there is a linkage between the 5'-flanking region polymorphisms of BACE2 and SAD in the Chinese Han population.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ácido Aspártico Endopeptidasas
/
Polimorfismo de Nucleótido Simple
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Región de Flanqueo 5'
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Secretasas de la Proteína Precursora del Amiloide
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Enfermedad de Alzheimer
Tipo de estudio:
Etiology_studies
/
Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Límite:
Aged
/
Female
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Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Brain Res
Año:
2009
Tipo del documento:
Article