Association of BACE1 gene polymorphism with Alzheimer's disease in Asian populations: meta-analysis including Korean samples.
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).


CONCLUSIONS
These data suggest that BACE1 polymorphism in exon 5 influences risk for late-onset AD in those carrying the ApoE epsilon4 allele.
Jo
Sangmee A
SA
Department of Biomedical Sciences and Biomedical Brain Research Center, National Institute of Health, Seoul, Korea. sangmeeaj@nih.go.kr
Ahn
Kyungsook
K
Kim
Eunkyung
E
Kim
Hwa-Su
HS
Jo
Inho
I
Kim
Doh Kwan
DK
Han
Changsoo
C
Park
Moon Ho
MH
D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000208:ethnology* / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D016564:Amyloid beta-Protein Precursor / Q000235:genetics; D053327:Apolipoprotein E4 / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide
D016564:Amyloid beta-Protein Precursor; D053327:Apolipoprotein E4; D053829:Amyloid Precursor Protein Secretases; D016282:Aspartic Acid Endopeptidases; C509280:BACE1 protein, human