Evidence map›Paper›PMID 36865328›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Subcortical brain alterations in carriers of genomic copy number variants.

Kuldeep Kumar, Claudia Modenato, Clara Moreau, Christopher R K Ching, Annabelle Harvey, Sandra Martin-Brevet, Guillaume Huguet, Martineau Jean-Louis, Elise Douard, Charles-Olivier Martin and 32 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

42 authors at 16 institutions in 9 countries.

Kuldeep KumarCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Claudia ModenatoLREN - Department of clinical neurosciences, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland.
Clara MoreauInstitut Pasteur, Université de Paris, CNRS UMR 3571, Human Genetics and Cognitive Functions, 25 rue du Dr. Roux, Paris, France.
Christopher R K ChingImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Annabelle HarveyCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Sandra Martin-BrevetLREN - Department of clinical neurosciences, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland.
Guillaume HuguetCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Martineau Jean-LouisCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Elise DouardCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Charles-Olivier MartinCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Nadine YounisCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Petra TamerCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Anne M MaillardService des Troubles du Spectre de l'Autisme et apparentés, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland.
Borja Rodriguez-HerrerosService des Troubles du Spectre de l'Autisme et apparentés, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland.
Aurélie PainService des Troubles du Spectre de l'Autisme et apparentés, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland.
Sonia RichetinService des Troubles du Spectre de l'Autisme et apparentés, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland.
16p11.2 European Consortium, Simons Searchlight Consortium
Leila KushanSemel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, UCLA, Los Angeles, USA.
Dmitry IsaevDepartment of Biomedical Engineering, Duke University, Durham, North Carolina, USA.
Kathryn AlpertDepartment of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Anjani RagothamanDepartment of biomedical engineering, Oregon Health and Science university, Portland, Oregon, USA.
Jessica A TurnerPsychology & Neuroscience, Georgia State University, Atlanta, Georgia, USA.
Lei WangDepartment of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Tiffany C HoDepartment of Psychiatry & Behavioral Sciences, Stanford University, Stanford, CA, USA.
Lianne SchmaalOrygen, The National Centre of Excellence in Youth Mental Health, Parkville, Australia.
Ana I SilvaSchool for Mental Health and Neuroscience, Maastricht University, Netherlands.
Marianne B M van den BreeMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
David E J LindenSchool for Mental Health and Neuroscience, Maastricht University, Netherlands.
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
Jeremy HallMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
Sarah LippéCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Guillaume DumasCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Bogdan DraganskiLREN - Department of clinical neurosciences, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland.
Boris A GutmanDepartment of Biomedical Engineering, Illinois Institute of Technology, Chicago, Illinois, USA.
Ida E SønderbyNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
Ole A AndreassenNORMENT, Division of Mental Health and Addiction, Oslo University Hospital and University of Oslo, Oslo, Norway.
Laura SchultzDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA.
Laura AlmasyDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, PA, USA.
David C GlahnHarvard Medical School, Department of Psychiatry, 25 Shattuck St, Boston, MA 02115, USA.
Carrie E BeardenSemel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, UCLA, Los Angeles, USA.
Paul M ThompsonImaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, California, USA.
Sébastien JacquemontCentre de recherche CHU Sainte-Justine and University of Montréal, Canada.
Centre Hospitalier Universitaire Sainte-Justine · CAUniversity Hospital of Lausanne · CHCardiff University · GBChildren's Hospital of Philadelphia · USMaastricht University · NLNorthwestern University · USOslo University Hospital · NOUniversity of Southern California · USBoston Children's Hospital · USCentre National de la Recherche Scientifique · FRDuke University · USGeorgia State University · USIllinois Institute of Technology · USOregon Health & Science University · USStanford University · USThe University of Melbourne · AU

Funding

Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
Neurodevelopment and Psychosis in the 22q11.2 Deletion SyndromeR01MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E · 2010 to 2020
$6.2M
Large-Scale Evaluation of the Effect of Rare Genetic Variants on Psychiatric Symptoms and Cognitive AbilityU01MH119690 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI ALMASY, LAURA A., GLAHN, DAVID C · 2019 to 2023
$5.9M
ENIGMA-COINSTAC-APOE2 Functional and structural connectome protective mechanisms for Alzheimer’s disease and mood disorders: Request for supplemental funds for NIH R01:1R01MH121246R01MH121246 · NIMH · OHIO STATE UNIVERSITY · PI CALHOUN, VINCE D, TURNER, JESS · 2019 to 2023
$5.0M
Integrative Molecular and Phenotype Analysis of 22q11.2 Deletion SyndromeR01MH100900 · NIMH · STANFORD UNIVERSITY · PI HALLMAYER, JOACHIM F · 2013 to 2017
$4.8M
Neurodevelopment and Psychosis in the 22q11.2 Copy Number VariantsR37MH085953 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI CARRIE E BEARDEN · 2023 to 2026
$2.9M
ENIGMA-SD: Understanding Sex Differences in Global Mental Health through ENIGMAR01MH116147 · NIMH · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2018 to 2021
$2.5M
Redefine Trans-Neuropsychiatric Disorder Brain Patterns through Big-Data and Machine LearningRF1MH123163 · NIMH · UNIVERSITY OF MARYLAND BALTIMORE · PI KOCHUNOV, PETER V., THOMPSON, PAUL M · 2021 to 2021
$1.2M
Integration of Five Large-Scale Neuropsychiatric Genetic Datasets under the RDoC FrameworkR03MH105808 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BEARDEN, CARRIE E, FEARS, SCOTT C. · 2015 to 2016
$154k
NIBIB NIH HHS U54 EB020403NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH100900NIMH NIH HHS R01 MH116147NIMH NIH HHS R01 MH121246NIMH NIH HHS R03 MH105808NIMH NIH HHS R37 MH085953NIMH NIH HHS RF1 MH123163NIMH NIH HHS U01 MH119690Wellcome Trust
6 · The paper itself

Abstract

Objectives: Copy number variants (CNVs) are well-known genetic pleiotropic risk factors for multiple neurodevelopmental and psychiatric disorders (NPDs) including autism (ASD) and schizophrenia (SZ). Overall, little is known about how different CNVs conferring risk for the same condition may affect subcortical brain structures and how these alterations relate to the level of disease risk conferred by CNVs. To fill this gap, we investigated gross volume, and vertex level thickness and surface maps of subcortical structures in 11 different CNVs and 6 different NPDs. Methods: Subcortical structures were characterized using harmonized ENIGMA protocols in 675 CNV carriers (at the following loci: 1q21.1, TAR, 13q12.12, 15q11.2, 16p11.2, 16p13.11, and 22q11.2) and 782 controls (Male/Female: 727/730; age-range: 6-80 years) as well as ENIGMA summary-statistics for ASD, SZ, ADHD, Obsessive-Compulsive-Disorder, Bipolar-Disorder, and Major-Depression. Results: Nine of the 11 CNVs affected volume of at least one subcortical structure. The hippocampus and amygdala were affected by five CNVs. Effect sizes of CNVs on subcortical volume, thickness and local surface area were correlated with their previously reported effect sizes on cognition and risk for ASD and SZ. Shape analyses were able to identify subregional alterations that were averaged out in volume analyses. We identified a common latent dimension - characterized by opposing effects on basal ganglia and limbic structures - across CNVs and across NPDs. Conclusion: Our findings demonstrate that subcortical alterations associated with CNVs show varying levels of similarities with those associated with neuropsychiatric conditions. We also observed distinct effects with some CNVs clustering with adult conditions while others clustered with ASD. This large cross-CNV and NPDs analysis provide insight into the long-standing questions of why CNVs at different genomic loci increase the risk for the same NPD, as well as why a single CNV increases the risk for a diverse set of NPDs.

Identifiers

PMID36865328
PMCPMC9980268
OpenAlexW4321501366

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.