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

Dementia and Geriatric Cognitive Disorders
Sangmee A JoMoon Ho Park

Abstract

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. 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. 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). These data suggest that BACE1 polymorphism in exon 5 influences risk for late-onset AD in those carrying the ApoE epsilon4 allele.

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Citations

Feb 6, 2016·Aging Clinical and Experimental Research·Mingjie WangJianhua Su
Jan 21, 2016·Parkinson's Disease·Johannes LangeJodi Maple-Grødem
May 1, 2012·Biomolecules & Therapeutics·Sang-Sun Yoon, Sangmee Ahn Jo
Sep 9, 2018·The European Physical Journal. E, Soft Matter·Abdallah Daddi-Moussa-IderStephan Gekle
Apr 24, 2020·Current Alzheimer Research·Michal PrendeckiWojciech Kozubski
May 15, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Shan Wang, Jianping Jia

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