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Article: Preferential transmission of the high activity allele of COMT in schizophrenia

TitlePreferential transmission of the high activity allele of COMT in schizophrenia
Authors
Issue Date1996
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.psychgenetics.com
Citation
Psychiatric Genetics, 1996, v. 6 n. 3, p. 131-133 How to Cite?
AbstractCatechol-O-methyl transferase (COMT) metabolizes a variety of catecholamines such as dopamine, adrenaline and noradrenaline. It exists in common high and low activity forms. The low activity form is the result of an amino acid substitution (val-108-met) which reduces the thermostability of the enzyme. We have genotyped this polymorphism in 178 trios consisting of Han Chinese schizophrenic subjects and their parents in order to test the hypothesis that the high activity allele is transmitted more often to affected subjects. The data were analysed using the transmission disequilibrium test (TDT), a robust method of detecting linkage in the presence of allelic associations. Of the 131 parents heterozygous at this locus, 80 transmitted the high activity allele (val-108) to affected offspring, while the remaining 51 transmitted the low activity allele (p = 0.005, one-tailed). Combining this result with that of a previous TDT study of the same polymorphism in familial schizophrenia submitted gives significant evidence for linkage disequilibrium (p = 0.0015). However, val-108 is frequent in the Han Chinese population, and in the present sample, 239 of the 350 non-transmitted parental alleles were val-108 (68%). It is therefore unlikely that val-108 allele of COMT has a major effect on susceptibility to schizophrenia. Our results suggest that either val-108 is a minor risk factor for schizophrenia, that the COMT gene has additional polymorphisms with greater effect on risk, or that this region of chromosome 22 contains a susceptibility gene which is in linkage disequilibrium with the COMT gene.
Persistent Identifierhttp://hdl.handle.net/10722/175745
ISSN
2015 Impact Factor: 1.736
2015 SCImago Journal Rankings: 0.968
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLi, Ten_US
dc.contributor.authorSham, PCen_US
dc.contributor.authorVallada, Hen_US
dc.contributor.authorXie, Ten_US
dc.contributor.authorTang, Xen_US
dc.contributor.authorMurray, RMen_US
dc.contributor.authorLiu, Xen_US
dc.contributor.authorCollier, DAen_US
dc.date.accessioned2012-11-26T09:00:54Z-
dc.date.available2012-11-26T09:00:54Z-
dc.date.issued1996en_US
dc.identifier.citationPsychiatric Genetics, 1996, v. 6 n. 3, p. 131-133en_US
dc.identifier.issn0955-8829en_US
dc.identifier.urihttp://hdl.handle.net/10722/175745-
dc.description.abstractCatechol-O-methyl transferase (COMT) metabolizes a variety of catecholamines such as dopamine, adrenaline and noradrenaline. It exists in common high and low activity forms. The low activity form is the result of an amino acid substitution (val-108-met) which reduces the thermostability of the enzyme. We have genotyped this polymorphism in 178 trios consisting of Han Chinese schizophrenic subjects and their parents in order to test the hypothesis that the high activity allele is transmitted more often to affected subjects. The data were analysed using the transmission disequilibrium test (TDT), a robust method of detecting linkage in the presence of allelic associations. Of the 131 parents heterozygous at this locus, 80 transmitted the high activity allele (val-108) to affected offspring, while the remaining 51 transmitted the low activity allele (p = 0.005, one-tailed). Combining this result with that of a previous TDT study of the same polymorphism in familial schizophrenia submitted gives significant evidence for linkage disequilibrium (p = 0.0015). However, val-108 is frequent in the Han Chinese population, and in the present sample, 239 of the 350 non-transmitted parental alleles were val-108 (68%). It is therefore unlikely that val-108 allele of COMT has a major effect on susceptibility to schizophrenia. Our results suggest that either val-108 is a minor risk factor for schizophrenia, that the COMT gene has additional polymorphisms with greater effect on risk, or that this region of chromosome 22 contains a susceptibility gene which is in linkage disequilibrium with the COMT gene.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.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshAllelesen_US
dc.subject.meshCatechol O-Methyltransferase - Genetics - Metabolismen_US
dc.subject.meshChinaen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, Pair 22en_US
dc.subject.meshDisease Susceptibilityen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMethionineen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshSchizophrenia - Geneticsen_US
dc.subject.meshValineen_US
dc.titlePreferential transmission of the high activity allele of COMT in schizophreniaen_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.doi10.1097/00041444-199623000-00005-
dc.identifier.pmid8902889-
dc.identifier.scopuseid_2-s2.0-0029851636en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0029851636&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume6en_US
dc.identifier.issue3en_US
dc.identifier.spage131en_US
dc.identifier.epage133en_US
dc.identifier.isiWOS:A1996VM14000005-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridLi, T=36072008200en_US
dc.identifier.scopusauthoridSham, PC=34573429300en_US
dc.identifier.scopusauthoridVallada, H=7003742958en_US
dc.identifier.scopusauthoridXie, T=17535617900en_US
dc.identifier.scopusauthoridTang, X=37043388500en_US
dc.identifier.scopusauthoridMurray, RM=35406239400en_US
dc.identifier.scopusauthoridLiu, X=7409286408en_US
dc.identifier.scopusauthoridCollier, DA=26642980600en_US

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