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Article: Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients
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TitleIntron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients
 
AuthorsLi, Y1
Chu, LW1
Chen, YQ1
Cheung, BMY1
Leung, RYH1
Yik, PY1
Ng, KM1
Mak, W1
Jin, DY1
GeorgeHyslop, PSt2
Song, YQ1
 
KeywordsAlzheimer's disease
Chinese
Cholesterol metabolism
CYP46A 1
Polymorphism
 
Issue Date2006
 
PublisherS Karger AG. The Journal's web site is located at http://www.karger.com/DEM
 
CitationDementia And Geriatric Cognitive Disorders, 2006, v. 22 n. 5-6, p. 399-404 [How to Cite?]
DOI: http://dx.doi.org/10.1159/000095723
 
AbstractBackground: Cholesterol metabolism has been implicated in the pathophysiology of Alzheimer's disease (AD), and cholesterol-related genes are plausible candidate genes for AD. Genetic association of CYP46A1 polymorphisms with AD had been under extensive investigations; however, observations on intron 2 T→C (rs754203) generated inconclusive results. Objective: To analyse an independent data set in a Chinese population to see whether the polymorphic site rs754203 of the CYP46A1 gene is associated with AD. Methods: We analysed 130 sporadic AD patients and 110 healthy controls of the Southern Chinese origin. Results: An association between the genotype frequency and AD was suggested in the general population (p = 0.047, odds ratio, OR = 1. 61, 95% confidence interval, CI = 0.96-2.70), while the association was most significant in the apolipoprotein E (ApoE) ε4-negative group (p = 0.004, OR = 2.54,95% CI =1.31-4.95). Linkage disequilibrium block prediction results also favoured this association. Consistent with previous reports, intron 3 C→T (rs4900442) polymorphism did not show any evidence of association; in our data set ApoEε 4 was confirmed to be a genetic risk factor for AD (p = 0.0016, OR = 2.76, 95% CI = 1.50-5.11). Copyright © 2006 S. Karger AG.
 
ISSN1420-8008
2013 Impact Factor: 2.812
 
DOIhttp://dx.doi.org/10.1159/000095723
 
ISI Accession Number IDWOS:000242167600004
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLi, Y
 
dc.contributor.authorChu, LW
 
dc.contributor.authorChen, YQ
 
dc.contributor.authorCheung, BMY
 
dc.contributor.authorLeung, RYH
 
dc.contributor.authorYik, PY
 
dc.contributor.authorNg, KM
 
dc.contributor.authorMak, W
 
dc.contributor.authorJin, DY
 
dc.contributor.authorGeorgeHyslop, PSt
 
dc.contributor.authorSong, YQ
 
dc.date.accessioned2010-09-17T10:22:43Z
 
dc.date.available2010-09-17T10:22:43Z
 
dc.date.issued2006
 
dc.description.abstractBackground: Cholesterol metabolism has been implicated in the pathophysiology of Alzheimer's disease (AD), and cholesterol-related genes are plausible candidate genes for AD. Genetic association of CYP46A1 polymorphisms with AD had been under extensive investigations; however, observations on intron 2 T→C (rs754203) generated inconclusive results. Objective: To analyse an independent data set in a Chinese population to see whether the polymorphic site rs754203 of the CYP46A1 gene is associated with AD. Methods: We analysed 130 sporadic AD patients and 110 healthy controls of the Southern Chinese origin. Results: An association between the genotype frequency and AD was suggested in the general population (p = 0.047, odds ratio, OR = 1. 61, 95% confidence interval, CI = 0.96-2.70), while the association was most significant in the apolipoprotein E (ApoE) ε4-negative group (p = 0.004, OR = 2.54,95% CI =1.31-4.95). Linkage disequilibrium block prediction results also favoured this association. Consistent with previous reports, intron 3 C→T (rs4900442) polymorphism did not show any evidence of association; in our data set ApoEε 4 was confirmed to be a genetic risk factor for AD (p = 0.0016, OR = 2.76, 95% CI = 1.50-5.11). Copyright © 2006 S. Karger AG.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationDementia And Geriatric Cognitive Disorders, 2006, v. 22 n. 5-6, p. 399-404 [How to Cite?]
DOI: http://dx.doi.org/10.1159/000095723
 
dc.identifier.doihttp://dx.doi.org/10.1159/000095723
 
dc.identifier.epage404
 
dc.identifier.hkuros140831
 
dc.identifier.isiWOS:000242167600004
 
dc.identifier.issn1420-8008
2013 Impact Factor: 2.812
 
dc.identifier.issue5-6
 
dc.identifier.pmid16960449
 
dc.identifier.scopuseid_2-s2.0-33750922698
 
dc.identifier.spage399
 
dc.identifier.urihttp://hdl.handle.net/10722/91646
 
dc.identifier.volume22
 
dc.languageeng
 
dc.publisherS Karger AG. The Journal's web site is located at http://www.karger.com/DEM
 
dc.publisher.placeSwitzerland
 
dc.relation.ispartofDementia and Geriatric Cognitive Disorders
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshAged
 
dc.subject.meshAged, 80 and over
 
dc.subject.meshAlleles
 
dc.subject.meshAlzheimer Disease - ethnology - genetics
 
dc.subject.meshApolipoprotein E4 - genetics
 
dc.subject.meshAsian Continental Ancestry Group - genetics
 
dc.subject.meshFemale
 
dc.subject.meshGenotype
 
dc.subject.meshHumans
 
dc.subject.meshIntrons - genetics
 
dc.subject.meshMale
 
dc.subject.meshPolymerase Chain Reaction
 
dc.subject.meshPolymorphism, Genetic - genetics
 
dc.subject.meshSteroid Hydroxylases - genetics
 
dc.subjectAlzheimer's disease
 
dc.subjectChinese
 
dc.subjectCholesterol metabolism
 
dc.subjectCYP46A 1
 
dc.subjectPolymorphism
 
dc.titleIntron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients
 
dc.typeArticle
 
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<contributor.author>Chu, LW</contributor.author>
<contributor.author>Chen, YQ</contributor.author>
<contributor.author>Cheung, BMY</contributor.author>
<contributor.author>Leung, RYH</contributor.author>
<contributor.author>Yik, PY</contributor.author>
<contributor.author>Ng, KM</contributor.author>
<contributor.author>Mak, W</contributor.author>
<contributor.author>Jin, DY</contributor.author>
<contributor.author>GeorgeHyslop, PSt</contributor.author>
<contributor.author>Song, YQ</contributor.author>
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<description.abstract>Background: Cholesterol metabolism has been implicated in the pathophysiology of Alzheimer&apos;s disease (AD), and cholesterol-related genes are plausible candidate genes for AD. Genetic association of CYP46A1 polymorphisms with AD had been under extensive investigations; however, observations on intron 2 T&#8594;C (rs754203) generated inconclusive results. Objective: To analyse an independent data set in a Chinese population to see whether the polymorphic site rs754203 of the CYP46A1 gene is associated with AD. Methods: We analysed 130 sporadic AD patients and 110 healthy controls of the Southern Chinese origin. Results: An association between the genotype frequency and AD was suggested in the general population (p = 0.047, odds ratio, OR = 1. 61, 95% confidence interval, CI = 0.96-2.70), while the association was most significant in the apolipoprotein E (ApoE) &#949;4-negative group (p = 0.004, OR = 2.54,95% CI =1.31-4.95). Linkage disequilibrium block prediction results also favoured this association. Consistent with previous reports, intron 3 C&#8594;T (rs4900442) polymorphism did not show any evidence of association; in our data set ApoE&#949; 4 was confirmed to be a genetic risk factor for AD (p = 0.0016, OR = 2.76, 95% CI = 1.50-5.11). Copyright &#169; 2006 S. Karger AG.</description.abstract>
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<subject>Alzheimer&apos;s disease</subject>
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<subject>Cholesterol metabolism</subject>
<subject>CYP46A 1</subject>
<subject>Polymorphism</subject>
<subject.mesh>Aged</subject.mesh>
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Author Affiliations
  1. The University of Hong Kong
  2. University of Toronto