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Cited by 87Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

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Writing Committee for the ENIGMA-CNV Working Group, van der Meer, Dennis, Sønderby, Ida E., Kaufmann, Tobias, Walters, G. Bragi, Abdellaoui, Abdel, Ames, David, Amunts, Katrin +125 more·2020·JAMA Psychiatry
DOI 10.1001/jamapsychiatry.2019.3779PMC PMC6822096
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Abstract

Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities. Objective: To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance. Design, Setting, and Participants: In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019. Main Outcomes and Measures: The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort. Results: Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = -0.41; SE, 0.08; P = 4.9 × 10-8), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10-7), and a smaller nucleus accumbens (Cohen d = -0.27; SE, 0.07; P = 7.3 × 10-5). There was also a significant negative dose response on cortical thickness (β = -0.24; SE, 0.05; P = 6.8 × 10-7). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion carriers compared with noncarriers on 5 of 7 tasks. Conclusions and Relevance: These findings, from the largest CNV neuroimaging study to date, provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected. The pattern of results fits with known molecular functions of genes in the 15q11.2 BP1-BP2 region and suggests involvement of these genes in neuronal plasticity. These neurobiological effects likely contribute to the association of this CNV with neurodevelopmental disorders.

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Authors
Writing Committee for the ENIGMA-CNV Working Group, van der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., Bernard, M., Blackburn, N. B., Blangero, J., Boomsma, D. I., Brodaty, H., Brouwer, R. M., Bülow, R., Cahn, W., Calhoun, V. D., Caspers, S., Cavalleri, G. L., Ching, C. R. K., Cichon, S., Ciufolini, S., Corvin, A., Crespo-Facorro, B., Curran, J. E., Dalvie, S., Dazzan, P., de Geus, E. J. C., de Zubicaray, G. I., de Zwarte, S. M. C., Delanty, N., den Braber, A., Desrivieres, S., Di Forti, M., Doherty, J. L., Donohoe, G., Ehrlich, S., Eising, E., Espeseth, T., Fisher, S. E., Fladby, T., Frei, O., Frouin, V., Fukunaga, M., Gareau, T., Glahn, D. C., Grabe, H. J., Groenewold, N. A., Gústafsson, Ó., Haavik, J., Haberg, A. K., Hashimoto, R., Hehir-Kwa, J. Y., Hibar, D. P., Hillegers, M. H. J., Hoffmann, P., Holleran, L., Hottenga, J.-J., Hulshoff Pol, H. E., Ikeda, M., Jacquemont, S., Jahanshad, N., Jockwitz, C., Johansson, S., Jönsson, E. G., Kikuchi, M., Knowles, E. E. M., Kwok, J. B., Le Hellard, S., Linden, D. E. J., Liu, J., Lundervold, A., Lundervold, A. J., Martin, N. G., Mather, K. A., Mathias, S. R., McMahon, K. L., McRae, A. F., Medland, S. E., Moberget, T., Moreau, C., Morris, D. W., Mühleisen, T. W., Murray, R. M., Nordvik, J. E., Nyberg, L., Olde Loohuis, L. M., Ophoff, R. A., Owen, M. J., Paus, T., Pausova, Z., Peralta, J. M., Pike, B., Prieto, C., Quinlan, E. B., Reinbold, C. S., Reis Marques, T., Rucker, J. J. H., Sachdev, P. S., Sando, S. B., Schofield, P. R., Schork, A. J., Schumann, G., Shin, J., Shumskaya, E., Silva, A. I., Sisodiya, S. M., Steen, V. M., Stein, D. J., Strike, L. T., Tamnes, C. K., Teumer, A., Thalamuthu, A., Tordesillas-Gutiérrez, D., Uhlmann, A., Úlfarsson, M. Ö., van ’t Ent, D., van den Bree, M. B. M., Vassos, E., Wen, W., Wittfeld, K., Wright, M. J., Zayats, T., Dale, A. M., Djurovic, S., Agartz, I., Westlye, L. T., Stefánsson, H., Stefánsson, K., Thompson, P. M., & Andreassen, O. A.
Affiliations
  • Norwegian Centre for Mental Disorders Research, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway
  • Oslo University Hospital (NO)
  • deCODE Genetics (Iceland) (IS)
  • Amsterdam University Medical Centers (NL)
  • The University of Melbourne (AU)
  • Forschungszentrum Jülich (DE)
  • Umeå University (SE)
  • Murdoch University (AU)
  • Hospital for Sick Children (CA)
  • The University of Texas Rio Grande Valley (US)
  • Amsterdam Neuroscience (NL)
  • UNSW Sydney (AU)
  • University Medical Center Utrecht (NL)
  • Universitätsmedizin Greifswald (DE)
  • Georgia Institute of Technology (US)
  • Royal College of Surgeons in Ireland (IE)
  • University of Southern California (US)
  • King's College London (GB)
  • Trinity College Dublin (IE)
  • University Hospital Marqués de Valdecilla, IdahoIVAL, Centre de Investigación Biomédica en Red Salud Mental (CIBERSAM), Santander, Spain
  • University of Cape Town (ZA)
  • Department of Biological Psychology and Netherlands Twin Register, VU University Amsterdam, Amsterdam, the Netherlands
  • Faculty of Health and Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Australia
  • Department of Psychiatry, UMC Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands
  • Beaumont Hospital (IE)
  • Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom
  • Cardiff University (GB)
  • Ollscoil na Gaillimhe – University of Galway (IE)
  • Technische Universität Dresden (DE)
  • Max Planck Institute for Psycholinguistics (NL)
  • University of Oslo (NO)
  • Radboud University Nijmegen (NL)
  • Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
  • The Graduate University for Advanced Studies, SOKENDAI (JP)
  • Boston Children's Hospital (US)
  • Haukeland University Hospital (NO)
  • Norwegian University of Science and Technology (NO)
  • National Center of Neurology and Psychiatry (JP)
  • Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands
  • Genentech (US)
  • Erasmus MC (NL)
  • University of Bonn (DE)
  • Fujita Health University (JP)
  • Centre Hospitalier Universitaire Sainte-Justine (CA)
  • The University of Osaka (JP)
  • The University of Sydney (AU)
  • Norwegian Centre for Mental Disorders Research, Department of Clinical Science, University of Bergen, Bergen, Norway
  • Maastricht University (NL)
  • QIMR Berghofer Medical Research Institute (AU)
  • Queensland University of Technology (AU)
  • The University of Queensland (AU)
  • CatoSenteret (NO)
  • Center for Neurobehavioral Genetics, University of California, Los Angeles
  • University of California, Los Angeles (US)
  • Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada
  • Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
  • Department of Radiology, University of Calgary, Calgary, Alberta, Canada
  • Universidad de Salamanca (ES)
  • Department of Psychosis Studies, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom
  • Institute for Biological Psychiatry, Roskilde, Denmark
  • Centre for Population Neuroscience and Precision Medicine, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London, United Kingdom
  • University of Toronto (CA)
  • UCL Queen Square Institute of Neurology (GB)
  • South African Medical Research Council (ZA)
  • Neuroimaging Unit, Technological Facilities, Valdecilla Biomedical Research Institute, IdahoIVAL, Santander, Spain
  • deCODE Genetics, Reykjavík, Iceland
  • MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom
  • National Health Service (GB)
  • Broad Institute (US)
  • University of California San Diego (US)
Corresponding author
  • Sønderby, Ida E.
  • Andreassen, Ole A.
ORCID
Venue
JAMA Psychiatry
Publisher
American Medical Association (AMA)
Published
2020-04-01
Volume
77
Issue
4
Pages
420
ISSN
2168-622X (ISSN-L)
DOI
10.1001/jamapsychiatry.2019.3779
PMC
PMC6822096
OpenAlex
W2982381555
Cited by
87
References
9
Citations by year
2026: 10 · 2025: 9 · 2024: 14 · 2023: 12 · 2022: 10 · 2021: 16 · 2020: 15 · 2019: 1
FWCI
6.33
Type
journal article
Language
en
Open access
Licence
other-oa
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Funders
  • Biogen
  • University of Southern California
  • Stiftelsen Kristian Gerhard Jebsen (223273)
  • Universität Basel
  • Norges Teknisk-Naturvitenskapelige Universitet
  • Fondation Brain Canada
  • National Alliance for Research on Schizophrenia and Depression
  • National University of Ireland
  • Wellcome Trust
  • Neuroscience Research Australia
  • Royal College of Surgeons in Ireland
  • Amsterdam University Medical Centers
  • National Institute for Health and Care Research (CS-2017-17-007)
  • King's College London
  • University of Oxford
  • European Commission (609020)
  • Cardiff University
  • Science Foundation Ireland
  • University of Galway
  • Trinity College Dublin
  • Queensland University of Technology
  • ZonMw
  • Radboud Universiteit
  • Technische Universität Dresden
  • Astellas Pharma
  • Universitetet i Bergen
  • Deutsches Zentrum für Neurodegenerative Erkrankungen
  • Universitetet i Oslo
  • Norges Forskningsråd (276082, 223273)
  • Commissariat à l'Énergie Atomique et aux Énergies Alternatives
  • Centro de Investigación Biomédica en Red de Salud Mental
  • University of Cape Town
  • RWTH Aachen University
  • Université Paris-Saclay
  • Fujita Health University
  • Rheinische Friedrich-Wilhelms-Universität Bonn
  • National Center of Neurology and Psychiatry
  • Haukeland Universitetssjukehus
  • Akershus Universitetssykehus
  • H. Lundbeck A/S
  • Vincent Fairfax Family Foundation
  • Amsterdam Neuroscience
  • Max Planck Instituut voor Psycholinguïstiek
  • National Institutes of Health (223273, U54 EB20403)
  • Genentech
  • University of California, Los Angeles
  • Institute of Psychiatry, Psychology and Neuroscience, King’s College London
  • Canadian Institutes of Health Research
  • Medical Research Council (MC_PC_17228, MR/L010305/1, MR/N000390/1)
  • National Health and Medical Research Council
  • Japan Society for the Promotion of Science (18KT0022, 20H03611, 17K15049, 16H03305, 20K15778)
  • Helse Sør-Øst RHF (R01MH116147, R56AG058854, 223273)
  • School of Psychology, Cardiff University
  • National Institute on Aging (R56AG058854, T32AG058507)
  • National Institute of Mental Health (R01MH116147)
  • National Institute of Biomedical Imaging and Bioengineering (U54EB020403)
  • National Institute for Physiological Sciences
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
copy number variation, microdeletion, microduplication, cortical thickness, cortical surface area, subcortical volume, nucleus accumbens, brain structure, cognitive ability, neurodevelopmental disorders, dose-response relationship, structural variants, brain imaging genetics, UK Biobank
MeSH terms
Brain Cortical Thickness, Cerebral Cortex, Chromosomes, Human, Pair 15, Cognition, Female, Heterozygote, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Neuropsychological Tests, Organ Size, Genetic Association Studies, Chromosome Breakpoints, DNA Copy Number Variations, Neuroimaging

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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