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Choline acetyltransferase 2384G>A polymorphism and the risk of Alzheimer disease

Title
Choline acetyltransferase 2384G>A polymorphism and the risk of Alzheimer disease
Authors
Lee J.J.Jo S.A.Park J.H.Lee S.B.Jo I.Kim D.K.Huh Y.Youn J.C.Jhoo J.H.Park K.U.Park S.S.Lee D.Y.Woo J.I.Kim K.W.
Ewha Authors
조인호
SCOPUS Author ID
조인호scopus
Issue Date
2012
Journal Title
Alzheimer Disease and Associated Disorders
ISSN
0893-0341JCR Link
Citation
vol. 26, no. 1, pp. 81 - 87
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
The potential association between choline acetyltransferase (CHAT) polymorphism and the risk of Alzheimer disease (AD) has been controversial. We examined the main effect of CHAT polymorphism and its interaction with apolipoprotein E (APOE) polymorphism in the development of AD in a well-powered elderly Korean sample. We analyzed CHAT 2384G>A polymorphism and APOE polymorphism among 736 Korean patients with probable AD and 1386 nondemented Korean controls. We tested the association between AD and CHAT genotype using a logistic regression model. In addition, we used generalized multifactor dimensionality reduction to investigate the interaction between CHAT and APOE with regard to the risk of AD. The CHAT A allele was associated with AD risk in a dose-dependent manner (odds ratio=1.40, 95% confidence interval=1.06-1.85, P=0.018 for heterozygotes; and odds ratio=3.92, 95% confidence interval=1.78-8.58, P=0.001 for homozygotes). The generalized multifactor dimensionality reduction approach identified a significant gene-gene interaction between CHAT and APOE (Balanced accuracy score=0.647, P=0.001). The CHAT A/A genotype was associated with earlier onset of AD (F=5.070, df=2, P=0.007). The CHAT A allele was associated with AD risk in a dose-dependent manner, and its interaction with the APOE ε4 allele was significant with regard to the development of AD. The CHAT A allele was also associated with earlier onset and possibly accelerated progression of AD. Copyright © 2012 by Lippincott Williams & Wilkins.
DOI
10.1097/WAD.0b013e31821cbcaf
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의학전문대학원 > 의학과 > Journal papers
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