Attention-deficit/hyperactivity disorder in a population isolate : linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11

dc.creatorArcos Burgos, Oscar Mauricio
dc.creatorCastellanos, Francisco Xavier
dc.creatorPineda Salazar, David Antonio
dc.creatorLopera Restrepo, Francisco Javier
dc.creatorPalacio Ortiz, Juan David
dc.creatorPalacio Baena, Luis Guillermo
dc.creatorRapoport, Judith
dc.creatorBerg, Kate
dc.creatorBailey Wilson, Joan E.
dc.creatorMuenke, Maximilian
dc.date2022-03-19T20:36:38Z
dc.date2022-03-19T20:36:38Z
dc.date2004
dc.date.accessioned2023-08-28T20:47:53Z
dc.date.available2023-08-28T20:47:53Z
dc.identifierArcos, M., Castellanos, F., Pineda, D., Lopera, F., Palacio, J., Palacio, L., Rapoport, J., Berg, K., Bailey, J., & Muenke, M. (2004). Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11. American journal of human genetics, 75(6), 998–1014. https://doi.org/10.1086/426154
dc.identifier0002-9297
dc.identifierhttp://hdl.handle.net/10495/26746
dc.identifier10.1086/426154
dc.identifier1537-6605
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8484410
dc.descriptionABSTRACT: Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is the most common behavioral disorder of childhood. Twin, adoption, segregation, association, and linkage studies have confirmed that genetics plays a major role in conferring susceptibility to ADHD. We applied model-based and model-free linkage analyses, as well as the pedigree disequilibrium test, to the results of a genome wide scan of extended and multigenerational families with ADHD from a genetic isolate. In these families, ADHD is highly comorbid with conduct and oppositional defiant disorders, as well as with alcohol and tobacco dependence. We found evidence of linkage to markers at chromosomes 4q13.2, 5q33.3, 8q11.23, 11q22, and 17p11 in individual families. Fine mapping applied to these regions resulted in significant linkage in the combined families at chromosomes 4q13.2 (two-point allele-sharing LOD score from LODPAL p 4.44 at D4S3248), 5q33.3 (two-point allele-sharing LOD score from LODPAL p 8.22 at D5S490), 11q22 (two-point allele-sharing LOD score from LODPAL p 5.77 at D11S1998; multipoint nonparametric linkage [NPL] 5log [P value] p 5.49 at ∼128 cM), and 17p11 (multipoint NPL 5log [P value] 112 at ∼12 cM; multipoint maximum location score 2.48 [a p 0.10] at ∼12 cM; two-point allele-sharing LOD score from LODPAL p 3.73 at D17S1159). Additionally, suggestive linkage was found at chromosome 8q11.23 (combined two-point NPL5log [P value] 13.0 at D8S2332). Several of these regions are novel (4q13.2, 5q33.3, and 8q11.23), whereas others replicate already-published loci (11q22 and 17p11). The concordance between results from different analytical methods of linkage and the replication of data between two independent studies suggest that these loci truly harbor ADHD susceptibility genes.
dc.descriptionCOL0006769
dc.descriptionCOL0010744
dc.descriptionCOL0007551
dc.format17
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherCell Press
dc.publisherGenética Regeneración y Cáncer
dc.publisherGrupo de Neurociencias de Antioquia
dc.publisherGrupo Neuropsicología y Conducta
dc.publisherBaltimore, Estados Unidos
dc.relationAm. J. Hum. 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.subjectTrastorno por Déficit de Atención con Hiperactividad - genética
dc.subjectAttention Deficit Disorder with Hyperactivity - genetics
dc.subjectMapeo Cromosómico
dc.subjectChromosome Mapping
dc.subjectCromosomas Humanos Par 4 - genética
dc.subjectChromosomes, Human, Pair 4 - genetics
dc.subjectCromosomas Humanos Par 5 - genética
dc.subjectChromosomes, Human, Pair 5 - genetics
dc.subjectCromosomas Humanos Par 11 - genética
dc.subjectChromosomes, Human, Pair 11 - genetics
dc.subjectCromosomas Humanos Par 17 - genética
dc.subjectChromosomes, Human, Pair 17 - genetics
dc.subjectLigamiento Genético
dc.subjectGenetic Linkage
dc.subjectGenoma Humano
dc.subjectGenome, Human
dc.subjectColombia
dc.subjectHaplotipos - genética
dc.subjectHaplotypes - genetics
dc.subjectEscala de Lod
dc.subjectLod Score
dc.subjecthttp://id.nlm.nih.gov/mesh/D001289
dc.titleAttention-deficit/hyperactivity disorder in a population isolate : linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
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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