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Article: Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients

TitleIntron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients
Authors
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
Citation
Dementia And Geriatric Cognitive Disorders, 2006, v. 22 n. 5-6, p. 399-404 How to Cite?
Abstract
Background: 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.
Persistent Identifierhttp://hdl.handle.net/10722/91646
ISSN
2013 Impact Factor: 2.812
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLi, Yen_HK
dc.contributor.authorChu, LWen_HK
dc.contributor.authorChen, YQen_HK
dc.contributor.authorCheung, BMYen_HK
dc.contributor.authorLeung, RYHen_HK
dc.contributor.authorYik, PYen_HK
dc.contributor.authorNg, KMen_HK
dc.contributor.authorMak, Wen_HK
dc.contributor.authorJin, DYen_HK
dc.contributor.authorGeorgeHyslop, PSten_HK
dc.contributor.authorSong, YQen_HK
dc.date.accessioned2010-09-17T10:22:43Z-
dc.date.available2010-09-17T10:22:43Z-
dc.date.issued2006en_HK
dc.identifier.citationDementia And Geriatric Cognitive Disorders, 2006, v. 22 n. 5-6, p. 399-404en_HK
dc.identifier.issn1420-8008en_HK
dc.identifier.urihttp://hdl.handle.net/10722/91646-
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.en_HK
dc.languageengen_HK
dc.publisherS Karger AG. The Journal's web site is located at http://www.karger.com/DEMen_HK
dc.relation.ispartofDementia and Geriatric Cognitive Disordersen_HK
dc.subjectAlzheimer's diseaseen_HK
dc.subjectChineseen_HK
dc.subjectCholesterol metabolismen_HK
dc.subjectCYP46A 1en_HK
dc.subjectPolymorphismen_HK
dc.subject.meshAgeden_HK
dc.subject.meshAged, 80 and overen_HK
dc.subject.meshAllelesen_HK
dc.subject.meshAlzheimer Disease - ethnology - geneticsen_HK
dc.subject.meshApolipoprotein E4 - geneticsen_HK
dc.subject.meshAsian Continental Ancestry Group - geneticsen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshHumansen_HK
dc.subject.meshIntrons - geneticsen_HK
dc.subject.meshMaleen_HK
dc.subject.meshPolymerase Chain Reactionen_HK
dc.subject.meshPolymorphism, Genetic - geneticsen_HK
dc.subject.meshSteroid Hydroxylases - geneticsen_HK
dc.titleIntron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patientsen_HK
dc.typeArticleen_HK
dc.identifier.emailCheung, BMY:mycheung@hku.hken_HK
dc.identifier.emailJin, DY:dyjin@hkucc.hku.hken_HK
dc.identifier.emailSong, YQ:songy@hkucc.hku.hken_HK
dc.identifier.authorityCheung, BMY=rp01321en_HK
dc.identifier.authorityJin, DY=rp00452en_HK
dc.identifier.authoritySong, YQ=rp00488en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1159/000095723en_HK
dc.identifier.pmid16960449en_HK
dc.identifier.scopuseid_2-s2.0-33750922698en_HK
dc.identifier.hkuros140831-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33750922698&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume22en_HK
dc.identifier.issue5-6en_HK
dc.identifier.spage399en_HK
dc.identifier.epage404en_HK
dc.identifier.isiWOS:000242167600004-
dc.publisher.placeSwitzerlanden_HK
dc.identifier.scopusauthoridLi, Y=36078824800en_HK
dc.identifier.scopusauthoridChu, LW=7202236665en_HK
dc.identifier.scopusauthoridChen, YQ=13409429100en_HK
dc.identifier.scopusauthoridCheung, BMY=7103294806en_HK
dc.identifier.scopusauthoridLeung, RYH=7101876102en_HK
dc.identifier.scopusauthoridYik, PY=15060623700en_HK
dc.identifier.scopusauthoridNg, KM=7403178500en_HK
dc.identifier.scopusauthoridMak, W=22934897600en_HK
dc.identifier.scopusauthoridJin, DY=7201973614en_HK
dc.identifier.scopusauthoridGeorgeHyslop, PSt=6601991234en_HK
dc.identifier.scopusauthoridSong, YQ=7404921212en_HK

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