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Genomewide Linkage Analysis of Bipolar Disorder by Use of a High Density Single-Nucleotide–Polymorphism (SNP) Genotyping Assay : A Comparison with Microsatellite Marker Assays and Finding of Significant linkage to Chromosome 6q22

2004Journal article Restricted access
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dc.contributor.authorMiddleton, Frank A.
dc.contributor.authorPato, Michele T.
dc.contributor.authorGentile, Karen
dc.contributor.authorMorley, C. P.
dc.contributor.authorZhao, X.
dc.contributor.authorEisener, A. F.
dc.contributor.authorBrown, A.
dc.contributor.authorPetryshen, T. L.
dc.contributor.authorKirby, A. N.
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.authorAzevedo, Maria H.
dc.contributor.authorKennedy, J. L.
dc.contributor.authorDaly, M. J.
dc.contributor.authorSklar, P.
dc.contributor.authorPato, Carlos N.
dc.date.accessioned2017-03-03T11:48:42Z
dc.date.available2017-03-03T11:48:42Z
dc.date.issued2004
dc.description.abstractWe performed a linkage analysis on 25 extended multiplex Portuguese families segregating for bipolar disorder, by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay, the GeneChip Human Mapping 10K Array (HMA10K). Of these families, 12 were used for a direct comparison of the HMA10K with the traditional 10-cM microsatellite marker set and the more dense 4-cM marker set. This comparative analysis indicated the presence of significant linkage peaks in the SNP assay in chromosomal regions characterized by poor coverage and low information content on the microsatellite assays. The HMA10K provided consistently high information and enhanced coverage throughout these regions. Across the entire genome, the HMA10K had an average information content of 0.842 with 0.21-Mb intermarker spacing. In the 12-family set, the HMA10K-based analysis detected two chromosomal regions with genomewide significant linkage on chromosomes 6q22 and 11p11; both regions had failed to meet this strict threshold with the microsatellite assays. The full 25-family collection further strengthened the findings on chromosome 6q22, achieving genomewide significance with a maximum nonparametric linkage (NPL) score of 4.20 and a maximum LOD score of 3.56 at position 125.8 Mb. In addition to this highly significant finding, several other regions of suggestive linkage have also been identified in the 25-family data set, including two regions on chromosome 2 (57 Mb, NPL = 2.98; 145 Mb, NPL = 3.09), as well as regions on chromosomes 4 (91 Mb, NPL = 2.97), 16 (20 Mb, NPL = 2.89), and 20 (60 Mb, NPL = 2.99). We conclude that at least some of the linkage peaks we have identified may have been largely undetected in previous whole-genome scans for bipolar disorder because of insufficient coverage or information content, particularly on chromosomes 6q22 and 11p11.en
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMiddleton, F.A., Pato, M.T., Gentile, K.L., Morley, C.P., Zhao, X., Eisener, A.F., Brown, A., Petryshen, T.L., Kirby, A.N., Medeiros, H., Carvalho, C., Macedo, A., Dourado, A., Coelho, I., Valente, J., Soares, M.J., Ferreira, C.P., Lei, M., Azevedo, M.H., Kennedy, J.L., Daly, M.J., Sklar, P., Pato, C.N. (2004). Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide- polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. "American Journal of Human Genetics", 74(5):886-897.pt_PT
dc.identifier.doi10.1086/420775pt_PT
dc.identifier.issn1537-6605 (Online)
dc.identifier.urihttp://hdl.handle.net/10400.3/4003
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttp://www.cell.com/ajhg/fulltext/S0002-9297(07)64356-0pt_PT
dc.subjectBipolar Disorderen
dc.subjectGeneChip Human Mappingen
dc.titleGenomewide Linkage Analysis of Bipolar Disorder by Use of a High Density Single-Nucleotide–Polymorphism (SNP) Genotyping Assay : A Comparison with Microsatellite Marker Assays and Finding of Significant linkage to Chromosome 6q22en
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage897pt_PT
oaire.citation.issue(5)pt_PT
oaire.citation.startPage886pt_PT
oaire.citation.titleAmerican Journal of Human Geneticsen
oaire.citation.volume74pt_PT
rcaap.rightsclosedAccesspt_PT
rcaap.typearticlept_PT

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