Jo, Sangmee A; Ahn, Kyungsook; Kim, Eunkyung; Kim, Hwa-Su; Jo, Inho; Kim, Doh Kwan; Han, Changsoo; Park, Moon Ho
Dementia and geriatric cognitive disorders
2008NA ; 25 ( 2 ) :165-9.
PMID : 18182766
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Jo, Sangmee A -
Ahn, Kyungsook -
Kim, Eunkyung -
Kim, Hwa-Su -
Jo, Inho -
Kim, Doh Kwan -
Han, Changsoo -
Park, Moon Ho -
ABSTRACT
BACKGROUND: Beta-site amyloid precursor protein cleaving enzyme (BACE) is a candidate risk factor for Alzheimer's disease (AD) from its key role in beta-amyloid generation. Previous genetic association studies of BACE1 gene have yielded conflicting results. This study is an attempt to clarify whether the common SNP in exon 5 of BACE1 (rs638405, Val262) is associated with a risk for late-onset AD.
METHODS: We genotyped a synonymous C/G polymorphism of BACE1 located in exon 5 and apolipoprotein E (ApoE) in 248 AD patients and 224 healthy persons. A meta-analysis with pooled data from four Chinese studies and our results was performed.
RESULTS: The allele and genotype frequencies of BACE1 polymorphism were not significantly different between cases and controls (p > 0.05) in the Korean population. A meta-analysis of previously published Asian populations including Koreans showed evidence of a weak association (p = 0.0555 for genotypes, p = 0.0352 for alleles). However, a significant association between the CC genotype and AD was observed in the ApoE-epsilon4-positive groups (p = 0.0044, OR = 1.995; 95% CI = 1.319-3.018). CONCLUSION: These data suggest that BACE1 polymorphism in exon 5 influences risk for late-onset AD in those carrying the ApoE epsilon4 allele. CI - Copyright (c) 2008 S. Karger AG, Basel.
Alzheimer¡¯s disease ¡¤ Apolipoprotein E ¡¤ ¥â-Amyloid ¡¤ ¥â-Site amyloid precursor protein cleaving enzyme
MESH
Aged, Alleles, Alzheimer Disease/*ethnology/*genetics, Amyloid Precursor Protein Secretases/*genetics, Amyloid beta-Protein Precursor/genetics, Apolipoprotein E4/genetics, Asian Continental Ancestry Group/*genetics, Aspartic Acid Endopeptidases/*genetics, Chromosomes, Human, Pair 11/genetics, Exons, Female, Genotype, Humans, Male, *Polymorphism, Single Nucleotide
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