期刊
TRANSLATIONAL PSYCHIATRY
卷 11, 期 1, 页码 -出版社
SPRINGERNATURE
DOI: 10.1038/s41398-021-01213-0
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类别
资金
- Institute of Neuroscience and Medicine, Research Center Juelich, Germany
- Heinz Nixdorf Foundation (Germany)
- Initiative and Networking Fund of the Helmholtz Association (Caspers)
- European Union's Horizon 2020 Research and Innovation Programme [945539]
- Netherlands Organization for Scientific Research [MagW 480-04-004 (Dorret I. Boomsma), 51.02.060 (Hilleke E. Hulshoff Pol), 668.772]
- NWO/SPI [56-464-14192]
- European Research Council [ERC-230374]
- High Potential Grant Utrecht University
- NWO Brain and Cognition [433-09-220]
- Knut and Alice Wallenberg (KAW) foundation (Nyberg).
- Swedish Research Council [2018-05973, K2010-62X-15078-07-2, K2012-61X-15078-09-3, 521-2014-3487 K2015-62X-15077-12-3, 2017-00949]
- Biobanking and Biomolecular Resources Research Infrastructure (Netherlands) (BBMRI-NL)
- Hersenstichting Nederland
- Netherlands Organization for Scientific Research (NWO)
- NWO Gravitation grant 'Language in Interaction', the European Community's Seventh Framework Programme (FP7/2007-2013) [602450, 278948, 602805]
- European Community's Horizon 2020 programme [643051]
- ERC-2010-AdG [268800-NEUROSCHEMA]
- BD2K Initiative of a cross-NIH partnership [U54 EB020403]
- Innovative Medicines Initiative Joint Undertaking [115008, 115300]
- European Union's Seventh Framework Programme (EU-FP7/2007-2013), EU-FP7 [602450]
- EU [286213]
- Science Foundation Ireland (SFI) [12/IP/1359, SFI08/IN.1/B1916]
- Medical Research Council (MRC) [G0801418]
- Wellcome Trust (Institutional Strategic Support Fund (ISSF)
- Wellcome Trust (Clinical Research Training Fellowship)
- Waterloo Foundation [WF 918-1234]
- Baily Thomas Charitable Fund [2315/1]
- National Institute of Mental Health [NIMH 5UO1MH101724]
- MRC [MR/T033045/1, MR/N022572/1]
- Wellcome Trust [100202/Z/12/Z]
- NIH [U54 EB20403, R01MH116147, R56AG058854, C06 RR020547]
- NIA [T32AG058507]
- NIH/NIMH [5T32MH073526]
- Science Foundation Ireland [08/RFP/GEN1538]
- UK Department of Health's NIHR Biomedical Research Centres funding scheme
- Epilepsy Society
- Wolfson Trust
- National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust
- Institute of Psychiatry, Psychology and Neuroscience, King's College London
- National Institutes of Health (NIH) [R01 MH078143, R01 MH078111, R01 MH083824]
- Center for Brain Science Neuroinformatics Research Group
- Athinoula A. Martinos Center for Biomedical Imaging
- Center for Genomic Medicine
- Stanley Center for Psychiatric Research
- Stockholm County Council
- Karolinska Institutet
- Liaison Committee
- Norwegian National Advisory Unit
- European Union [LSHM-CT- 2007-037286, 847776]
- Horizon 2020 [695313, PR-ST-0416-10004, MR/N027558/1, 785907]
- FP7 project IMAGEMEND (IMAging GEnetics for MENtal Disorders) [602450]
- FP7 project MATRICS [603016]
- Innovative Medicine Initiative Project EUAIMS [115300-2]
- Medical Research Council Grant 'c-VEDA' (Consortium on Vulnerability to Externalizing Disorders and Addictions) [MR/N000390/1]
- Swedish Research Council FORMAS
- Medical Research Council
- National Institute for Health Research (NIHR) Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London
- Bundesministeriumfur Bildung und Forschung (BMBF) [01GS08152, 01EV0711, eMED SysAlc01ZX1311A, Forschungsnetz AERIAL 01EE1406A, 01EE1406B]
- Deutsche Forschungsgemeinschaft (DFG) [SM 80/7-2, SFB 940/2]
- Medical Research Foundation
- Medical Research Council [MR/R00465X/1, MR/S020306/1]
- ANR [AF12-NEUR0008-01-WM2NA, ANR-12-SAMA-0004]
- Eranet Neuron [ANR-18-NEUR00002-01]
- Fondation de France [00081242]
- Fondation pour la Recherche Medicale [DPA20140629802]
- Mission Interministerielle de Lutte-contre-les-Drogues-et-les-Conduites-Addictives (MILDECA)
- Assistance-Publique-Hopitaux-de-Paris
- INSERM
- Paris Sud University IDEX 2012
- Fondation de l'Avenir [AP-RM-17-013]
- Federation pour la Recherche sur le Cerveau
- National Institutes of Health [R01D0042157-01A1, R01MH58799-03, MH081802, DA018673, R01 DK092127-04, 1RC2 MH089951, 1RC2 MH089995, R01EB006841, P20GM103472, P30GM122734]
- USA (Axon, Testosterone and Mental Health during Adolescence) [RO1 MH085772-01A1]
- NIH Consortium grant - cross-NIH alliance [U54 EB020403]
- Bergen Research Foundation
- University of Bergen
- Dr Einar Martens Fund
- Research Council of Norway [230345, 288083, 223273, 249795, 262372]
- Research Council of Norway
- Western Norway Regional Health Authority [911593, 911397, 911687]
- Netherlands Organisation for Health Research and Development (ZonMW) [904-61-090, 985-10-002, 912-10-020, 904-61-193, 480-04-004, 463-06-001, 451-04-034, 400-05-717, Addiction-31160008, 908-02-123, 016-115-035, 481-08-011, 056-32-010, Middelgroot-911-09-032]
- OCW_NWO Gravity programme [024.001.003]
- NWO-Groot [480-15-001/674]
- Center for Medical Systems Biology (CSMB, NWO Genomics)
- NBIC/BioAssist/RK [2008.024]
- Biobanking and Biomolecular Resources Research Infrastructure (BBMRI-NL) [184.021.007, 184.033.111]
- Spinozapremie [NWO-56-464-14192]
- KNAW Academy Professor Award [PAH/6635]
- University Research Fellow grant (URF)
- Amsterdam Public Health research institute
- Neuroscience Amsterdam research institute
- European Science Foundation (ESF) [EU/QLRT-2001-01254]
- European Community's Seventh Framework Programme (FP7- HEALTH-F4-2007-2013) [01413: ENGAGE, 602768: ACTION]
- European Research Council (ERC) [284167, 771057, 230374]
- Rutgers University Cell and DNA Repository [U24 MH068457-06]
- Avera Institute for Human Genetics, Sioux Falls, South Dakota (USA)
- Genetic Association Information Network (GAIN) of the Foundation for the National Institutes of Health
- NWO [2018/EW/00408559]
- BiG Grid, the Dutch e-Science Grid
- SURFSARA
- National Health & Medical Research Council (NHMRC)
- Australian Research Council (ARC) Strategic Award Grant of the Ageing Well, Ageing Productively Programme [401162]
- NHMRC Project Grants [1045325, 1085606]
- NHMRC Centre for Research Excellence Grant [1079102]
- Commonwealth Scientific and Industrial Research Organization Flagship Collaboration Fund Grant
- Brain Mapping by Integrated Neurotechnologies for Disease Studies (Brain/MINDS) [JP18dm0207006]
- Japan Agency for Medical Research and Development (AMED) [JP25293250, JP16H05375]
- Instituto de Salud Carlos III [FIS 00/3095, 01/3129, PI020499, PI060507, PI10/00183]
- SENY Fundacio Research Grant [CI2005-0308007]
- FundacionMarques de Valdecilla [API07/011]
- Department of Energy [DE-FG02-99ER62764]
- National Institute on Drug Abuse [RC2DA029475]
- Eunice Kennedy Shriver National Institute of Child Health & Human Development
- National Institute of Child Health and Human Development [R01 HD050735]
- National Health and Medical Research Council (NHMRC), Australia [486682, 1009064]
- NHMRC [389875]
- NHMRC fellowship [APP1103623]
- Federal Ministry of Education and Research [01ZZ9603, 01ZZ0103, 01ZZ0403]
- Ministry of Cultural Affairs
- Social Ministry of the Federal State of Mecklenburg-West Pomerania
- Norwegian ExtraFoundation for Health and Rehabilitation [2015/FO5146]
- South-Eastern Norway Regional Health Authority [2014097, 2015044, 2015073, 2020060]
- Department of Psychology, University of Oslo
- National and HealthMedical Research Council (NHMRC) Programme and Project Grants [ID350833, ID568969, ID109308]
- Canadian Institutes of Health Research
- Centre of Excellence: RCN [23273, 226971]
- European Union Seventh Framework Programme (FP7-PEOPLE-2013-COFUND) [609020]
- Research Council of Norway (RCN) [276082-A]
- KG Jebsen Foundation [SKGJ-MED-021]
- National Alliance for Research in Schizophrenia and Affective Disorders (NARSAD) [20244]
- Netherlands Organisation for Scientific Research(NWO) [9120818, NWO-VIDI 917-46-370]
- Dutch Health Research Council (ZonMw) [10-000-1001]
- GGZ inGeest
- Arkin
- Dijk en Duin
- GGZ Rivierduinen
- Erasmus Medical Centre
- The Hague
- GGzE
- GGZ Breburg
- GGZ Oost-Brabant
- Vincent van Gogh
- voor Geestelijke Gezondheid
- Mondriaan
- Virenzeriagg
- Zuyderland GGZ
- MET ggz
- Universitair Centrum Sint-JozefKortenberg
- CAPRI University of Antwerp
- PC Ziekeren Sint-Truide
- PZ Sancta Maria Sint-Truiden
- GGZ Overpelt
- OPZ Rekem
- Utrecht: University Medical Center Utrecht
- Altrecht
- GGZ Centraal
- Delta
- UK Biobank [27412]
- European Research Council (ERC Adv Grant GENDEVOCORTEX)
- EOS Programme
- Belgian FWO
- AXA Research Fund
- Belgian Queen Elizabeth Foundation
- FRS/FNRS
- Science Foundation Ireland (SFI) [08/RFP/GEN1538] Funding Source: Science Foundation Ireland (SFI)
- Swedish Research Council [2017-00949] Funding Source: Swedish Research Council
- MRC [MR/T033045/1] Funding Source: UKRI
- Medical Research Council [MR/N022572/1, MR/R00465X/1, MR/S020306/1, MR/T033045/1] Funding Source: researchfish
- Medical Research Foundation [MRF-058-0009-RG-DESR-C0759, MRF-058-0004-RG-DESRI] Funding Source: researchfish
The study found distinct differences in brain structure and cognitive function among carriers of low-frequency 1q21.1 distal deletion and duplication, demonstrating the gene dose effect on specific brain structures and cognitive function.
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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