File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Case-control, haplotype relative risk and transmission disequilibrium analysis of a dopamine D2 receptor functional promoter polymorphism in schizophrenia

TitleCase-control, haplotype relative risk and transmission disequilibrium analysis of a dopamine D2 receptor functional promoter polymorphism in schizophrenia
Authors
Issue Date1998
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/schres
Citation
Schizophrenia Research, 1998, v. 32 n. 2, p. 87-92 How to Cite?
AbstractThe dopamine system has long been suspected of aetiological involvement in schizophrenia because of a number of lines of evidence pointing to excess dopaminergic activity in the illness. Recently, negative allelic association was reported between a single base deletion in the promoter region of the DRD2 gene, - 141ΔC, and schizophrenia, with an odds ratio of 0.60. This was of particular interest since the deletion, which occurs in about 22% of the Japanese population, is functional in that it results in reduced (20-40% of wild-type) basal levels of receptor expression. We have examined this polymorphism in 229 family trios from SW China, consisting of both parents and a single offspring affected by schizophrenia, and 151 Caucasian cases with schizophrenia and 145 Caucasian normal controls from the UK. Using the haplotype-based haplotype relative risk method (HHRR), the frequency of the - 141ΔC allele was 6.9% in the affected Chinese subjects compared to an estimated frequency of 9.0% in this population (χ 2=1.21, 1 df, ns), with an odds ratio of 0.76 (95%CI 0.46-1.25). Using the transmission disequilibrium test, we likewise found no evidence for linkage or linkage disequilibrium with this polymorphism (χ 2 =0.94, 1 df, ns). In the Caucasian cases, the frequency of the -141ΔC was 13% compared to 10% in controls (χ 2= 1.57, p=0.21) with an odds ratio of 1.39 (95%CI 0.81-2.40). We thus conclude that the DRD2 -141ΔC polymorphism is less frequent in Chinese and Caucasian populations (9%) than in Japan (22%) and is not a significant risk factor for schizophrenia in our populations. The -141ΔC allele remains a strong candidate for a variety of other traits and diseases, including reward- related behaviours such as drug abuse, which have been associated with the dopamine system.
Persistent Identifierhttp://hdl.handle.net/10722/175797
ISSN
2015 Impact Factor: 4.453
2015 SCImago Journal Rankings: 2.304
References

 

DC FieldValueLanguage
dc.contributor.authorLi, Ten_US
dc.contributor.authorArranz, Men_US
dc.contributor.authorAitchison, KJen_US
dc.contributor.authorBryant, Cen_US
dc.contributor.authorLiu, Xen_US
dc.contributor.authorKerwin, RWen_US
dc.contributor.authorMurray, Ren_US
dc.contributor.authorSham, Pen_US
dc.contributor.authorCollier, DAen_US
dc.date.accessioned2012-11-26T09:01:22Z-
dc.date.available2012-11-26T09:01:22Z-
dc.date.issued1998en_US
dc.identifier.citationSchizophrenia Research, 1998, v. 32 n. 2, p. 87-92en_US
dc.identifier.issn0920-9964en_US
dc.identifier.urihttp://hdl.handle.net/10722/175797-
dc.description.abstractThe dopamine system has long been suspected of aetiological involvement in schizophrenia because of a number of lines of evidence pointing to excess dopaminergic activity in the illness. Recently, negative allelic association was reported between a single base deletion in the promoter region of the DRD2 gene, - 141ΔC, and schizophrenia, with an odds ratio of 0.60. This was of particular interest since the deletion, which occurs in about 22% of the Japanese population, is functional in that it results in reduced (20-40% of wild-type) basal levels of receptor expression. We have examined this polymorphism in 229 family trios from SW China, consisting of both parents and a single offspring affected by schizophrenia, and 151 Caucasian cases with schizophrenia and 145 Caucasian normal controls from the UK. Using the haplotype-based haplotype relative risk method (HHRR), the frequency of the - 141ΔC allele was 6.9% in the affected Chinese subjects compared to an estimated frequency of 9.0% in this population (χ 2=1.21, 1 df, ns), with an odds ratio of 0.76 (95%CI 0.46-1.25). Using the transmission disequilibrium test, we likewise found no evidence for linkage or linkage disequilibrium with this polymorphism (χ 2 =0.94, 1 df, ns). In the Caucasian cases, the frequency of the -141ΔC was 13% compared to 10% in controls (χ 2= 1.57, p=0.21) with an odds ratio of 1.39 (95%CI 0.81-2.40). We thus conclude that the DRD2 -141ΔC polymorphism is less frequent in Chinese and Caucasian populations (9%) than in Japan (22%) and is not a significant risk factor for schizophrenia in our populations. The -141ΔC allele remains a strong candidate for a variety of other traits and diseases, including reward- related behaviours such as drug abuse, which have been associated with the dopamine system.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/schresen_US
dc.relation.ispartofSchizophrenia Researchen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAllelesen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshChinaen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage Disequilibrium - Geneticsen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshReceptors, Dopamine D2 - Geneticsen_US
dc.subject.meshRisk Factorsen_US
dc.subject.meshSchizophrenia - Geneticsen_US
dc.titleCase-control, haplotype relative risk and transmission disequilibrium analysis of a dopamine D2 receptor functional promoter polymorphism in schizophreniaen_US
dc.typeArticleen_US
dc.identifier.emailSham, P: pcsham@hku.hken_US
dc.identifier.authoritySham, P=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/S0920-9964(98)00024-3en_US
dc.identifier.pmid9713903-
dc.identifier.scopuseid_2-s2.0-0032572622en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0032572622&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume32en_US
dc.identifier.issue2en_US
dc.identifier.spage87en_US
dc.identifier.epage92en_US
dc.publisher.placeNetherlandsen_US
dc.identifier.scopusauthoridLi, T=36072008200en_US
dc.identifier.scopusauthoridArranz, M=7006010757en_US
dc.identifier.scopusauthoridAitchison, KJ=7003415672en_US
dc.identifier.scopusauthoridBryant, C=7103310112en_US
dc.identifier.scopusauthoridLiu, X=7409286408en_US
dc.identifier.scopusauthoridKerwin, RW=7102904567en_US
dc.identifier.scopusauthoridMurray, R=35406239400en_US
dc.identifier.scopusauthoridSham, P=34573429300en_US
dc.identifier.scopusauthoridCollier, DA=26642980600en_US

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats