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Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11

2004Journal article Restricted access
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dc.contributor.authorPato, Carlos N.
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.authorDaly, M. J.
dc.contributor.authorSklar, P.
dc.date.accessioned2017-02-24T18:43:17Z
dc.date.available2017-02-24T18:43:17Z
dc.date.issued2004
dc.description.abstractAs part of an extensive study in the Portuguese Island population of families with multiple patients suffering from bipolar disorder and schizophrenia, we performed an initial genome-wide scan of 16 extended families with bipolar disorder that identified three regions on chromosomes 2, 11, and 19 with genome-wide suggestive linkage and several other regions, including chromosome 6q, also approached suggestive levels of significance. Dick et al. [2003: Am J Hum Genet 73:107-114] recently reported in a study of 250 families with bipolar disorder a maxLOD score of 3.61 near marker D6S1021 on chromosome 6q. This study replicates this finding having detected a peak NPL = 2.02 (P = 0.025) with the same marker D6S1021(104.7 Mb). Higher-density mapping provided additional support for loci on chromosome 6 including marker D6S1021 with an NPL = 2.59 (P = 0.0068) and peaking at marker D6S1639 (125 Mb) with an NPL = 3.06 (P = 0.0019). A similar pattern was detected with higher-density mapping of chromosome 11 with an NPL = 3.15 (P = 0.0014) at marker D11S1883 (63.1 Mb). Simulations at the density of our fine mapping data indicate that less than 1 scan out of 10 would find two such scores genome-wide in the same scan by chance. Our findings provide additional support for a susceptibility locus for bipolar disorder on 6q, as well as, suggesting the importance of denser scans.en
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationPato, C.N.,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., Daly, M.J., Sklar, P. (2004). Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11. "American Journal of Medical Genetics Part B: Neuropsychiatric Genetics", 127B(1), 30-34.en
dc.identifier.doi10.1002/ajmg.b.30001pt_PT
dc.identifier.issn1552-485X
dc.identifier.urihttp://hdl.handle.net/10400.3/3998
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherJohn Wiley and Sonspt_PT
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.b.30001/fullpt_PT
dc.subjectBipolar Disorderen
dc.subjectSchizophreniaen
dc.titleGenome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder : fine mapping adds support on chromosomes 6 and 11en
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage34pt_PT
oaire.citation.issue(1)pt_PT
oaire.citation.startPage30pt_PT
oaire.citation.titleAmerican Journal of Medical Genetics Part B: Neuropsychiatric Geneticsen
oaire.citation.volume127Bpt_PT
rcaap.rightsclosedAccesspt_PT
rcaap.typearticlept_PT

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