dc.creator | Sønderby, Ida E. | es |
dc.creator | Gústafsson, Ómar | es |
dc.creator | Doan, Nhat Trung | es |
dc.creator | Hibar, Derrek P. | es |
dc.creator | Martin-Brevet, Sandra | es |
dc.creator | Abdellaoui, Abdel | es |
dc.creator | Crespo Facorro, Benedicto | es |
dc.creator | Prieto, Carlos | es |
dc.date.accessioned | 2023-04-05T10:39:35Z | |
dc.date.available | 2023-04-05T10:39:35Z | |
dc.date.issued | 2020 | |
dc.identifier.citation | Sønderby, I.E., Gústafsson, Ó., Doan, N.T., Hibar, D.P., Martin-Brevet, S., Abdellaoui, A.,...,Prieto, C. (2020). Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Molecular Psychiatry, 25 (3), 584-602. https://doi.org/10.1038/s41380-018-0118-1. | |
dc.identifier.issn | 1359-4184 | es |
dc.identifier.issn | 1476-5578 (electrónico) | es |
dc.identifier.uri | https://hdl.handle.net/11441/143991 | |
dc.description | Erratum: Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia (Molecular psychiatry (2020) 25 3 (584-602)) | es |
dc.description.abstract | Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = −0.71 to −1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = −0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10−6, 1.7 × 10−9, 3.5 × 10−12 and 1.0 × 10−4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes. | es |
dc.format | application/pdf | es |
dc.format.extent | 18 p. | es |
dc.language.iso | eng | es |
dc.publisher | Springer Nature | es |
dc.relation.ispartof | Molecular Psychiatry, 25 (3), 584-602. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Basal Ganglia | es |
dc.subject | Magnetic Resonance Imaging | es |
dc.subject | Intracranial | es |
dc.subject | Microdeletion syndrome | es |
dc.subject | Gene | es |
dc.subject | Dosage | es |
dc.subject | Deletion | es |
dc.subject | Phenotype | es |
dc.subject | Autism | es |
dc.subject | Microduplication | es |
dc.subject | Duplications | es |
dc.title | Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Psiquiatría | es |
dc.relation.projectID | R01 EB005846; R01 EB000840; U54 EB020403; R01 EB006841 | es |
dc.relation.projectID | R01 EB005846; R01 EB000840; U54 EB020403; R01 EB006841 | es |
dc.relation.projectID | R01 HD050735 | es |
dc.relation.projectID | P20 GM103472 | es |
dc.relation.projectID | RC1 MH089257; RC2 MH089951; K08 MH068540; R01 MH078111; R01 MH085772; R01 MH081802; R01 MH083824; RC2 MH089995 | es |
dc.relation.publisherversion | https://www.nature.com/articles/s41380-018-0118-1 | es |
dc.identifier.doi | 10.1038/s41380-018-0118-1 | es |
dc.journaltitle | Molecular Psychiatry | es |
dc.publication.volumen | 25 | es |
dc.publication.issue | 3 | es |
dc.publication.initialPage | 584 | es |
dc.publication.endPage | 602 | es |
dc.contributor.funder | NCRR NIH HHS | es |
dc.contributor.funder | NIBIB NIH HHS | es |
dc.contributor.funder | NICHD NIH HHS | es |
dc.contributor.funder | NIGMS NIH HHS | es |
dc.contributor.funder | NIMH NIH HHS | es |