Accès ouvert déclaré 2021 article

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

Ida E. Sønderby, Clara Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J. Armstrong, Manon Bernard, Nicholas B. Blackburn, John Blangero, Dorret I. Boomsma, Henry Brodaty, Rachel M. Brouwer, Robin Bülow, Rune Bøen, Wiepke Cahn, Vince D. Calhoun, Svenja Caspers, Christopher R. K. Ching, Sven Cichon, Simone Ciufolini, Benedicto Crespo‐Facorro, Joanne E. Curran, Anders M. Dale, Shareefa Dalvie, Paola Dazzan, Eco J. C. de Geus, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Sylvane Desrivières, Joanne Doherty, Gary Donohoe, Bogdan Draganski, Stefan Ehrlich, Else Eising, Thomas Espeseth, Kim Fejgin, Simon E. Fisher, Tormod Fladby, Oleksandr Frei, Vincent Frouin, Masaki Fukunaga, Thomas Gareau, Tian Ge, David C. Glahn, Hans J. Grabe, Nynke A. Groenewold, Ómar Gústafsson, Jan Haavik, Asta K. Håberg, Jérémy Hall, Ryota Hashimoto, Jayne Y. Hehir‐Kwa, Derrek P. Hibar, Manon H. J. Hillegers, Per Hoffmann, Laurena Holleran, Avram J. Holmes, Georg Homuth, Jouke‐Jan Hottenga, Hilleke E. Hulshoff Pol, Masashi Ikeda, Neda Jahanshad, Christiane Jockwitz, Stefan Johansson, Erik G. Jönsson, Niklas Rye Jørgensen, Masataka Kikuchi, Emma E. M. Knowles, Kuldeep Kumar, Stéphanie Le Hellard, Costin Leu, David E.J. Linden, Jingyu Liu, Arvid Lundervold, Astri J. Lundervold, Anne Maillard, Nicholas G. Martin, Sandra Martin‐Brevet, Karen A. Mather, Samuel R. Mathias, Katie L. McMahon, Allan F. McRae, Sarah E. Medland, Andreas Meyer‐Lindenberg, Torgeir Moberget, Claudia Modenato, Jennifer Monereo Sánchez, Derek W. Morris, Thomas W. Mühleisen, Robin Murray, Jacob Nielsen, Jan Egil Nordvik, Lars Nyberg, Loes M. Olde Loohuis, Roel A. Ophoff, Michael J. Owen, Tomáš Paus, Zdenka Pausová, Juan M. Peralta, G. Bruce Pike, Carlos Alberto Vanegas Prieto, Erin Burke Quinlan, Céline S. Reinbold, Tiago Reis Marques, James Rucker, Perminder S. Sachdev, Sigrid Botne Sando, Peter R. Schofield, Andrew J. Schork, Jean Shin, Elena Shumskaya, Ana Isabel Silva, Sanjay M. Sisodiya, Vidar M. Steen, Dan J. Stein, Lachlan T. Strike, Ikuo Suzuki, Christian K. Tamnes, Alexander Teumer, Anbupalam Thalamuthu, Diana Tordesillas‐Gutiérrez, Anne Uhlmann, Magnús Ö. Úlfarsson, Dennis van ‘t Ent, Marianne B. M. van den Bree, Pierre Vanderhaeghen, Evangelos Vassos, Wei Wen, Katharina Wittfeld, Margaret J. Wright, Ingrid Agartz, Srdjan Djurovic, Lars T. Westlye, Hreinn Stefánsson, Kāri Stefánsson, Sébastien Jacquemont, Paul M. Thompson, Ole A. Andreassen

40Citations signalées, ce qui n’est pas une note de qualité
116Institutions déclarées
17Pays d’affiliation déclarés

Rattachement africain : no, nl, ca, de, is, dk, au, se, us, ch, gb, es, Afrique du Sud, ie, fr, jp, be. Niveau de preuve : code pays fourni par la source.

Le résumé fourni par la source

Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers display a high prevalence of micro- and macrocephaly in deletion and duplication carriers, respectively. The underlying brain structural diversity remains largely unknown. We systematically called CNVs in 38 cohorts from the large-scale ENIGMA-CNV collaboration and the UK Biobank and identified 28 1q21.1 distal deletion and 22 duplication carriers and 37,088 non-carriers (48% male) derived from 15 distinct magnetic resonance imaging scanner sites. With standardized methods, we compared subcortical and cortical brain measures (all) and cognitive performance (UK Biobank only) between carrier groups also testing for mediation of brain structure on cognition. We identified positive dosage effects of copy number on intracranial volume (ICV) and total cortical surface area, with the largest effects in frontal and cingulate cortices, and negative dosage effects on caudate and hippocampal volumes. The carriers displayed distinct cognitive deficit profiles in cognitive tasks from the UK Biobank with intermediate decreases in duplication carriers and somewhat larger in deletion carriers-the latter potentially mediated by ICV or cortical surface area. These results shed light on pathobiological mechanisms of neurodevelopmental disorders, by demonstrating gene dose effect on specific brain structures and effect on cognitive function.

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Le contrôle bibliographique ouvert

DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Date Crossref
22/03/2021
Éditeur
Springer Science and Business Media LLC
Type
journal-article

Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.

Les institutions déclarées

Oslo University HospitalUniversity of OsloMaastricht UniversityCentre Hospitalier Universitaire Sainte-JustineInstitut Universitaire de Gériatrie de MontréalUniversity of TübingendeCODE Genetics (Iceland)University of IcelandGlostrup HospitalCopenhagen University HospitalRigshospitaletAmsterdam University Medical CentersUniversity of AmsterdamThe University of MelbourneNational Ageing Research InstituteDüsseldorf University HospitalHeinrich Heine University DüsseldorfUmeå UniversityMurdoch UniversityHospital for Sick ChildrenThe University of Texas Rio Grande ValleyAmsterdam NeuroscienceAmsterdam UMC Location Vrije Universiteit AmsterdamUNSW SydneyDementia Collaborative Research CentresCentre for Healthy Brain AgeingUtrecht UniversityUniversity Medical Center UtrechtUniversitätsmedizin GreifswaldAltrecht GGZGeorgia Institute of TechnologyEmory UniversityUniversity of New MexicoGeorgia State UniversityCenter for Translational Research in Neuroimaging and Data ScienceUniversity of Southern CaliforniaUniversity of BaselUniversity Hospital of BaselKing's College LondonCentro de Investigación Biomédica en Red de Salud MentalMarqués de Valdecilla University HospitalInstituto de Investigación Marqués de ValdecillaCentro de Investigación Biomédica en RedInstituto de Biomedicina de SevillaUniversity of California San DiegoUniversity of Cape TownQueensland University of TechnologyCardiff UniversityOllscoil na Gaillimhe – University of GalwayMax Planck Institute for Human Cognitive and Brain SciencesUniversity of LausanneTechnische Universität DresdenMax Planck Institute for PsycholinguisticsOslo Nye HøyskoleLundbeck (Denmark)Radboud University NijmegenAkershus University HospitalCommissariat à l'Énergie Atomique et aux Énergies AlternativesUniversité Paris-SaclayCEA Paris-SaclayNational Institute for Physiological SciencesBroad InstituteHarvard UniversityMassachusetts General HospitalBoston Children's HospitalInstitute for Community LivingHartford Financial Services (United States)German Center for Neurodegenerative DiseasesHaukeland University HospitalUniversity of BergenNorwegian University of Science and TechnologySt Olav's University HospitalNational Center of Neurology and PsychiatryNational Institute of Mental HealthThe University of OsakaPrincess Máxima CenterErasmus MC - Sophia Children’s HospitalUniversity of BonnYale UniversityFujita Health UniversityKarolinska InstitutetStockholm Health Care ServicesUniversity of CopenhagenCleveland Clinic Lerner College of MedicineNational Hospital for Neurology and NeurosurgeryUniversity College LondonEpilepsy SocietyQIMR Berghofer Medical Research InstituteNeuroscience Research AustraliaThe University of QueenslandHeidelberg UniversityUniversity Hospital HeidelbergCentral Institute of Mental HealthUniversity of California, Los AngelesErasmus MCUniversity of TorontoHolland Bloorview Kids Rehabilitation HospitalBloorview Research InstituteUniversity of CalgaryUniversidad de SalamancaHammersmith HospitalMRC London Institute of Medical SciencesImperial College LondonPrince of Wales HospitalTranslational Genomics Research InstituteRadboud University Medical CenterSouth African Medical Research CouncilVIB-KU Leuven Center for Brain & Disease ResearchThe University of TokyoDiakonhjemmet HospitalUniversité Libre de BruxellesNational Health ServiceSouth London and Maudsley NHS Foundation TrustNational Institute for Health and Care ResearchNational Imaging FacilityUniversité de Montréal

Une affiliation ne permet pas de déduire la nationalité d’un auteur.

Les sujets associés

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