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
2011 Impact Factor: 2.141
2011 SCImago Journal Rankings: 0.152
DOIhttp://dx.doi.org/10.1159/000095723
ISI Accession Number IDWOS:000242167600004
ReferencesReferences in Scopus
DC Field
Value
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
2011 Impact Factor: 2.141
2011 SCImago Journal Rankings: 0.152
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
Author Affiliations
  1. The University of Hong Kong
  2. University of Toronto