A Narrow and Highly Significant Linkage Signal for Severe Bipolar Disorder in the Chromosome 5q33 Region in Latin American Pedigrees

dc.creatorJasinska, Anna
dc.creatorService, Susan
dc.creatorJawaheer, Damini
dc.creatorDeYoung, Joseph
dc.creatorLevinson, Matthew
dc.creatorKremeyer, Barbara
dc.creatorAldana, I
dc.creatorGarcía Valencia, Jenny
dc.creatorRestrepo Botero, Gabriel Jaime
dc.creatorPalacio Acosta, Carlos Alberto
dc.creatorDuque Vélez, Constanza Elena
dc.creatorParra Marín, María Victoria
dc.creatorVega Parra, Jorge Arturo
dc.creatorOrtíz Barrientos, Daniel
dc.creatorBedoya Berrío, Gabriel de Jesús
dc.creatorMathews, Carol
dc.creatorDavanzo, Pablo
dc.creatorFournier, Eduardo
dc.creatorBejarano, Julio
dc.creatorArguedas Ramírez, María Gabriela
dc.creatorAraya Ortíz, C
dc.creatorAraya, Xinia
dc.creatorMolina, Julio
dc.creatorSabattini, Chiara
dc.creatorReus, Victor
dc.creatorOspina Duque, Jorge
dc.creatorMacaya, Gabriel
dc.creatorRuíz Linares, Andrés
dc.creatorFreimer, Nelson
dc.creatorLópez Jaramillo, Carlos Alberto
dc.date2022-03-20T19:03:10Z
dc.date2022-03-20T19:03:10Z
dc.date2009
dc.date.accessioned2023-08-28T20:47:26Z
dc.date.available2023-08-28T20:47:26Z
dc.identifierJasinska, A., Service, S., Jawaheer, D., DeYoung, J., Levinson, M., Zhang, Z., Kremeyer, B., Muller, H., Aldana, I., Garcia, J., Restrepo, G., Lopez, C., Palacio, C., Duque, C., Parra, M., Vega, J., Ortiz, D., Bedoya, G., Mathews, C., Davanzo, P., … Freimer, N. (2009). A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigrees. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 150B(7), 998–1006. https://doi.org/10.1002/ajmg.b.30956
dc.identifier1552-4841
dc.identifierhttp://hdl.handle.net/10495/26758
dc.identifier10.1002/ajmg.b.30956
dc.identifier1552-485X
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8484306
dc.descriptionABSTRACT: We previously reported linkage of bipolar disorder to 5q33-q34in families from two closely related population isolates, theCentralValleyofCostaRica(CVCR)andAntioquia,Colombia (CO). Here we present follow up results from fine-scale mapping in large CVCR and CO families segregating severebipolar disorder, BP-I, and in 343 population trios/duos fromCVCR and CO. Employing densely spaced SNPs to fine map theprior linkage peak region increases linkage evidence and clarifiesthe position of the putative BP-I locus. We performed two-pointlinkage analysis with 1134 SNPs in an approximately 9 Mb regionbetween markers D5S410 and D5S422. Combining pedigreesfrom CVCR and CO yields a LOD score of 4.9 at SNP rs10035961.Two other SNPs (rs7721142 and rs1422795) within the same 94kb region also displayed LOD scores greater than 4. This linkagepeak coincides with our prior microsatellite results and suggestsa narrowed BP-I susceptibility regions in these families.To investigate if the locus implicated in the familial form ofBP-I also contributes to disease risk in the population, wefollowed up the family results with association analysis in duoand trio samples, obtaining signals within 2 Mb of the peak linkage signal in the pedigrees; rs12523547 and rs267015(P¼0.00004 and 0.00016, respectively) in the CO sample andrs244960 in the CVCR sample and the combined sample,withP¼0.00032 and 0.00016, respectively. It remains unclearwhether these association results reflect the same locus contri-buting to BP susceptibility within the extended pedigrees.
dc.descriptionCOL0006723
dc.descriptionCOL0029147
dc.format9
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherWiley-Blackwell
dc.publisherGenética Molecular (GENMOL)
dc.publisherGrupo de Investigación en Psiquiatría GIPSI
dc.publisherHoboken, Estados Unidos
dc.relationAm. J. Med. Genet. B. Neuropsychiatr. Genet.
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectLigamiento Genético
dc.subjectGenetic Linkage
dc.subjectGrupo de Ascendencia Continental Nativa Americana - genética
dc.subjectAmerican Native Continental Ancestry Group - genetics
dc.subjectTrastorno Bipolar - genética
dc.subjectBipolar Disorder - genetics
dc.subjectCromosomas Humanos Par 5
dc.subjectChromosomes, Human, Pair 5
dc.subjectFrecuencia de los Genes
dc.subjectGene Frequency
dc.subjectLigamiento Genético
dc.subjectGenetic Linkage
dc.subjectMarcadores Genéticos
dc.subjectGenetic Markers
dc.subjectPredisposición Genética a la Enfermedad
dc.subjectGenetic Predisposition to Disease
dc.subjectAmérica del Sur
dc.subjectLatin America
dc.subjectLinaje
dc.subjectPedigree
dc.subjectPolimorfismo de Nucleótido Simple - genética
dc.subjectPolymorphism, Single Nucleotide - genetics
dc.titleA Narrow and Highly Significant Linkage Signal for Severe Bipolar Disorder in the Chromosome 5q33 Region in Latin American Pedigrees
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/acceptedVersion
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.typehttps://purl.org/redcol/resource_type/ART
dc.typeArtículo de investigación


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