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Article: Catechol-O-methyltransferase polymorphisms and schizophrenia: A transmission disequilibrium study in multiply affected families

TitleCatechol-O-methyltransferase polymorphisms and schizophrenia: A transmission disequilibrium study in multiply affected families
Authors
KeywordsBiochemical
Catecholamine
Chromosome 22
Dopamine
Genetics
Linkage
Psychosis
VCFS
Issue Date1997
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.psychgenetics.com
Citation
Psychiatric Genetics, 1997, v. 7 n. 3, p. 97-101 How to Cite?
AbstractCatechol-O-methyltransferase (COMT) metabolizes catecholamines such as dopamine, noradrenaline and adrenaline. It exists as common high and low activity alleles in the population (determined by a valine 158 methionine polymorphism), and high red blood cell activity of COMT has previously been associated with schizophrenia. To examine the relationship between COMT and schizophrenia genetically, the transmission disequilibrium test was performed on 22 multiply affected Caucasian and Japanese families genotyped for val158met and a second, silent, polymorphism (C256G), using PCR based assays. The high activity val158 allele was transmitted from parents to the affected individuals more frequently than the low activity met158 allele, although this was not statistically significant. Combining this data with a previous study using Chinese family trios with schizophrenia gave a highly significant result (p = 0.0015). The G256 allele was also transmitted preferentially to the affected offspring, and this was statistically significant when schizophrenia, schizoaffective disorder and unspecified functional psychosis were included in the definition of the affected phenotype (p = 0.03). Overall, these findings may indicate an effect of COMT alleles on susceptibility to schizophrenia, or reflect linkage disequilibrium with a different causative polymorphism in the vicinity. Other reported associations of COMT with obsessive compulsive and rapid cycling bipolar disorder indicate that the COMT gene may have complex and pleiotropic effects on susceptibility and symptomatology of neuropsychiatric disorders.
Persistent Identifierhttp://hdl.handle.net/10722/175996
ISSN
2023 Impact Factor: 1.5
2023 SCImago Journal Rankings: 0.629
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorKunugi, Hen_US
dc.contributor.authorVallada, HPen_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorHoda, Fen_US
dc.contributor.authorArranz, MJen_US
dc.contributor.authorLi, Ten_US
dc.contributor.authorNanko, Sen_US
dc.contributor.authorMurray, RMen_US
dc.contributor.authorMcguffin, Pen_US
dc.contributor.authorOwen, Men_US
dc.contributor.authorGill, Men_US
dc.contributor.authorCollier, DAen_US
dc.date.accessioned2012-11-26T09:03:37Z-
dc.date.available2012-11-26T09:03:37Z-
dc.date.issued1997en_US
dc.identifier.citationPsychiatric Genetics, 1997, v. 7 n. 3, p. 97-101en_US
dc.identifier.issn0955-8829en_US
dc.identifier.urihttp://hdl.handle.net/10722/175996-
dc.description.abstractCatechol-O-methyltransferase (COMT) metabolizes catecholamines such as dopamine, noradrenaline and adrenaline. It exists as common high and low activity alleles in the population (determined by a valine 158 methionine polymorphism), and high red blood cell activity of COMT has previously been associated with schizophrenia. To examine the relationship between COMT and schizophrenia genetically, the transmission disequilibrium test was performed on 22 multiply affected Caucasian and Japanese families genotyped for val158met and a second, silent, polymorphism (C256G), using PCR based assays. The high activity val158 allele was transmitted from parents to the affected individuals more frequently than the low activity met158 allele, although this was not statistically significant. Combining this data with a previous study using Chinese family trios with schizophrenia gave a highly significant result (p = 0.0015). The G256 allele was also transmitted preferentially to the affected offspring, and this was statistically significant when schizophrenia, schizoaffective disorder and unspecified functional psychosis were included in the definition of the affected phenotype (p = 0.03). Overall, these findings may indicate an effect of COMT alleles on susceptibility to schizophrenia, or reflect linkage disequilibrium with a different causative polymorphism in the vicinity. Other reported associations of COMT with obsessive compulsive and rapid cycling bipolar disorder indicate that the COMT gene may have complex and pleiotropic effects on susceptibility and symptomatology of neuropsychiatric disorders.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.psychgenetics.comen_US
dc.relation.ispartofPsychiatric Geneticsen_US
dc.subjectBiochemical-
dc.subjectCatecholamine-
dc.subjectChromosome 22-
dc.subjectDopamine-
dc.subjectGenetics-
dc.subjectLinkage-
dc.subjectPsychosis-
dc.subjectVCFS-
dc.subject.meshAmino Acid Substitutionen_US
dc.subject.meshAsian Continental Ancestry Groupen_US
dc.subject.meshCatechol O-Methyltransferase - Geneticsen_US
dc.subject.meshEuropean Continental Ancestry Groupen_US
dc.subject.meshFamilyen_US
dc.subject.meshGenomic Imprintingen_US
dc.subject.meshGenotypeen_US
dc.subject.meshGreat Britainen_US
dc.subject.meshHumansen_US
dc.subject.meshJapanen_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshPsychotic Disorders - Enzymology - Geneticsen_US
dc.subject.meshSchizophrenia - Enzymology - Geneticsen_US
dc.titleCatechol-O-methyltransferase polymorphisms and schizophrenia: A transmission disequilibrium study in multiply affected familiesen_US
dc.typeArticleen_US
dc.identifier.emailSham, PC: pcsham@hku.hken_US
dc.identifier.authoritySham, PC=rp00459en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1097/00041444-199723000-00001-
dc.identifier.pmid9323320-
dc.identifier.scopuseid_2-s2.0-9844257590en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-9844257590&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume7en_US
dc.identifier.issue3en_US
dc.identifier.spage97en_US
dc.identifier.epage101en_US
dc.identifier.isiWOS:A1997XY12000001-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridKunugi, H=7004544595en_US
dc.identifier.scopusauthoridVallada, HP=7003742958en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridHoda, F=6505990749en_US
dc.identifier.scopusauthoridArranz, MJ=7006010757en_US
dc.identifier.scopusauthoridLi, T=36072008200en_US
dc.identifier.scopusauthoridNanko, S=7006294283en_US
dc.identifier.scopusauthoridMurray, RM=35406239400en_US
dc.identifier.scopusauthoridMcGuffin, P=22954119700en_US
dc.identifier.scopusauthoridOwen, M=36044041500en_US
dc.identifier.scopusauthoridGill, M=35228962600en_US
dc.identifier.scopusauthoridCollier, DA=26642980600en_US
dc.identifier.issnl0955-8829-

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