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Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis

2004Journal article Restricted access
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dc.contributor.authorSklar, P.
dc.contributor.authorPato, Michele T.
dc.contributor.authorKirby, A. N.
dc.contributor.authorPetryshen, T. L.
dc.contributor.authorMedeiros, Helena
dc.contributor.authorCarvalho, Célia
dc.contributor.authorMacedo, António
dc.contributor.authorDourado, A.
dc.contributor.authorCoelho, I.
dc.contributor.authorValente, J.
dc.contributor.authorSoares, M. J.
dc.contributor.authorFerreira, Carlos Paz
dc.contributor.authorLei, M.
dc.contributor.authorVerner, A.
dc.contributor.authorHudson, T. J.
dc.contributor.authorMorley, C. P.
dc.contributor.authorKennedy, J. L.
dc.contributor.authorAzevedo, Maria H.
dc.contributor.authorLander, E.
dc.contributor.authorDaly, M. J.
dc.contributor.authorPato, Carlos N.
dc.date.accessioned2017-03-03T12:30:24Z
dc.date.available2017-03-03T12:30:24Z
dc.date.issued2004
dc.description.abstractSchizophrenia is a common psychiatric disorder with a complex genetic etiology. To understand the genetic basis of this syndrome in Portuguese Island populations, we performed a genome-wide scan of 29 families with schizophrenia, which identified a single region on 5q31-5q35 with strong linkage (NPL=3.09, P=0.0012 at D5S820). Empirical simulations set a genome-wide threshold of NPL=3.10 for significant linkage. Additional support for this locus in schizophrenia comes from higher-density mapping and mapping of 11 additional families. The combined set of 40 families had a peak NPL=3.28 (P=0.00066) at markers D5S2112-D5S820. These data and previous linkage findings from other investigators provide strong and consistent evidence for this genomic region as a susceptibility locus for schizophrenia. Exploratory analyses of a novel phenotype, psychosis, in families with schizophrenia and bipolar disorder detected evidence for linkage to the same markers as found in schizophrenia (peak NPL=3.03, P=0.0012 at D5S820), suggesting that this locus may be responsible for the psychotic symptoms observed in both diseases.en
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationSklar, P., Pato, M.T., Kirby, A., Petryshen, T.L., Medeiros, H., Carvalho, C., Macedo, A., Dourado, A., Coelho, I., Valente, J., Soares, M.J., Ferreira, C.P., Lei, M., Verner, A., Hudson, T.J., Morley, C.P., Kennedy, J.L., Azevedo, M.H., Lander. E., Daly, M.J., Pato, C.N. (2004). Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. "Molecular Psychiatry", 9(2), 213-218.en
dc.identifier.doi10.1038/sj.mp.4001418pt_PT
dc.identifier.issn1476-5578 (Online)
dc.identifier.urihttp://hdl.handle.net/10400.3/4004
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Groupen
dc.subjectSchizophreniaen
dc.subjectPsychiatric Disorderen
dc.subjectGeneticen
dc.titleGenome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosisen
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage218pt_PT
oaire.citation.issue(2)pt_PT
oaire.citation.startPage213pt_PT
oaire.citation.titleMolecular Psychiatryen
oaire.citation.volume9pt_PT
rcaap.rightsclosedAccesspt_PT
rcaap.typearticlept_PT

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