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Article: Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3

TitleAssociation and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3
Authors
Issue Date2001
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/mp
Citation
Molecular Psychiatry, 2001, v. 6 n. 5, p. 565-569 How to Cite?
AbstractSeveral reports have suggested the presence of anticipation in bipolar affective disorder (BPAD). In addition, independent studies using the RED (repeat expansion detection) have shown association between BPAD and longer CAG/CTG repeats. Therefore loci with large CAG/CTG repeats are plausible candidates in the inheritance of BPAD. The present study assesses the length of the repeats in four loci: the ERDA-1 locus which is known to account for most of the long CAG repeats detected by RED, the SEF2-1b locus which is placed in a region where positive linkage results have been reported and the loci MAB21L and KCNN3 as functional candidate genes. A Brazilian case-control sample with 115 unrelated BPAD patients and 196 healthy control subjects and 14 multiply affected bipolar families was investigated. With the case-control design the distribution of alleles between the two groups did not approach statistical significance. The extended transmission disequilibrium test (ETDT) performed in our families did not show evidence for linkage disequilibrium. Parametric and non-parametric linkage analysis also did not provide support for linkage between any of the four loci and BPAD. Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2,-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.
Persistent Identifierhttp://hdl.handle.net/10722/175834
ISSN
2015 Impact Factor: 13.314
2015 SCImago Journal Rankings: 6.790
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorMeiraLima, IVen_US
dc.contributor.authorZhao, Jen_US
dc.contributor.authorSham, Pen_US
dc.contributor.authorPereira, ACen_US
dc.contributor.authorKrieger, JEen_US
dc.contributor.authorVallada, Hen_US
dc.date.accessioned2012-11-26T09:01:40Z-
dc.date.available2012-11-26T09:01:40Z-
dc.date.issued2001en_US
dc.identifier.citationMolecular Psychiatry, 2001, v. 6 n. 5, p. 565-569en_US
dc.identifier.issn1359-4184en_US
dc.identifier.urihttp://hdl.handle.net/10722/175834-
dc.description.abstractSeveral reports have suggested the presence of anticipation in bipolar affective disorder (BPAD). In addition, independent studies using the RED (repeat expansion detection) have shown association between BPAD and longer CAG/CTG repeats. Therefore loci with large CAG/CTG repeats are plausible candidates in the inheritance of BPAD. The present study assesses the length of the repeats in four loci: the ERDA-1 locus which is known to account for most of the long CAG repeats detected by RED, the SEF2-1b locus which is placed in a region where positive linkage results have been reported and the loci MAB21L and KCNN3 as functional candidate genes. A Brazilian case-control sample with 115 unrelated BPAD patients and 196 healthy control subjects and 14 multiply affected bipolar families was investigated. With the case-control design the distribution of alleles between the two groups did not approach statistical significance. The extended transmission disequilibrium test (ETDT) performed in our families did not show evidence for linkage disequilibrium. Parametric and non-parametric linkage analysis also did not provide support for linkage between any of the four loci and BPAD. Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2,-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/mpen_US
dc.relation.ispartofMolecular Psychiatryen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshAllelesen_US
dc.subject.meshBasic Helix-Loop-Helix Leucine Zipper Transcription Factorsen_US
dc.subject.meshBipolar Disorder - Geneticsen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshDna-Binding Proteinsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Markersen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHelix-Loop-Helix Motifsen_US
dc.subject.meshHomeodomain Proteins - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPotassium Channels - Geneticsen_US
dc.subject.meshPotassium Channels, Calcium-Activateden_US
dc.subject.meshReference Valuesen_US
dc.subject.meshSmall-Conductance Calcium-Activated Potassium Channelsen_US
dc.subject.meshStatistics As Topicen_US
dc.subject.meshStatistics, Nonparametricen_US
dc.subject.meshTcf Transcription Factorsen_US
dc.subject.meshTrans-Activators - Geneticsen_US
dc.subject.meshTranscription Factor 7-Like 2 Proteinen_US
dc.subject.meshTranscription Factorsen_US
dc.subject.meshTrinucleotide Repeatsen_US
dc.titleAssociation and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3en_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.doi10.1038/sj.mp.4000898en_US
dc.identifier.pmid11526470-
dc.identifier.scopuseid_2-s2.0-0034880799en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034880799&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume6en_US
dc.identifier.issue5en_US
dc.identifier.spage565en_US
dc.identifier.epage569en_US
dc.identifier.isiWOS:000170346900010-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridMeiraLima, IV=6602293581en_US
dc.identifier.scopusauthoridZhao, J=7410311266en_US
dc.identifier.scopusauthoridSham, P=34573429300en_US
dc.identifier.scopusauthoridPereira, AC=7402230187en_US
dc.identifier.scopusauthoridKrieger, JE=7201508348en_US
dc.identifier.scopusauthoridVallada, H=7003742958en_US

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