Evidence map›Paper›PMID 36372570›Full record

ArticleBiological psychiatry2023

Genetic Heterogeneity Shapes Brain Connectivity in Psychiatry.

Clara A Moreau, Annabelle Harvey, Kuldeep Kumar, Guillaume Huguet, Sebastian G W Urchs, Elise A Douard, Laura M Schultz, Hanad Sharmarke, Khadije Jizi, Charles-Olivier Martin and 19 more

Open access · greenAbstract read
In one paragraph

Article in Biological psychiatry, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.9field-weighted citation impact, top 8% of its field
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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Biological subtyping of autism via cross-species fMRI.bioRxiv : the preprint server for biology · 2025
    Article
  6. Article
  7. Review
  8. Review
  9. Article
  10. Longitudinal Development of Thalamocortical Functional Connectivity in 22q11.2 Deletion Syndrome.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2024
    Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Subcortical brain alterations in carriers of genomic copy number variants.medRxiv : the preprint server for health sciences · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

29 authors at 12 institutions in 5 countries.

Clara A MoreauHuman Genetics and Cognitive Functions, Institut Pasteur, Université Paris Cité, Paris, France; Sainte-Justine Research Center, University of Montréal, Montréal, Canada; Centre de Recherche de l'Institut Universitaire de Gériatrie de Montréal, Montreal, Canada. Electronic address: clara.moreau@umontreal.ca.
Annabelle HarveySainte-Justine Research Center, University of Montréal, Montréal, Canada; Centre de Recherche de l'Institut Universitaire de Gériatrie de Montréal, Montreal, Canada.
Kuldeep KumarSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Guillaume HuguetSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Sebastian G W UrchsCentre de Recherche de l'Institut Universitaire de Gériatrie de Montréal, Montreal, Canada; Montreal Neurological Institute, McGill University, Montreal, Canada.
Elise A DouardSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Laura M SchultzLifespan Brain Institute, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.
Hanad SharmarkeCentre de Recherche de l'Institut Universitaire de Gériatrie de Montréal, Montreal, Canada.
Khadije JiziSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Charles-Olivier MartinSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Nadine YounisSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Petra TamerSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Thomas RollandHuman Genetics and Cognitive Functions, Institut Pasteur, Université Paris Cité, Paris, France.
Jean-Louis MartineauSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Pierre OrbanCentre de Recherche de l'Institut Universitaire en Santé Mentale de Montréal, Montréal, Canada; Département de Psychiatrie et d'Addictologie, Université de Montréal, Montréal, Canada.
Ana Isabel SilvaNeuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, The Netherlands.
Jeremy HallNeuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
Marianne B M van den BreeNeuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
Michael J OwenNeuroscience and Mental Health Research Institute, Cardiff University, Cardiff, United Kingdom; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
David E J LindenMRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom; School for Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht University, The Netherlands.
Aurelie LabbeDépartement des Sciences de la Décision, HEC, Québec, Montréal, Canada.
Sarah LippéSainte-Justine Research Center, University of Montréal, Montréal, Canada.
Carrie E BeardenIntegrative Center for Neurogenetics, Semel Institute for Neuroscience and Human Behavior, Departments of Psychiatry and Biobehavioral Sciences and Psychology, University of California, Los Angeles, Los Angeles, California.
Laura AlmasyDepartment of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Pennsylvania; Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania; Lifespan Brain Institute, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.
David C GlahnHarvard Medical School, Department of Psychiatry, Boston, Massachusetts; Boston Children's Hospital, Tommy Fuss Center for Neuropsychiatric Disease Research, Boston, Massachusetts.
Paul M ThompsonImaging Genetics Center, Stevens Institute for Neuroimaging and Informatics, Keck USC School of Medicine, Marina del Rey, California.
Thomas BourgeronHuman Genetics and Cognitive Functions, Institut Pasteur, Université Paris Cité, Paris, France.
Pierre BellecCentre de Recherche de l'Institut Universitaire de Gériatrie de Montréal, Montreal, Canada.
Sebastien JacquemontSainte-Justine Research Center, University of Montréal, Montréal, Canada. Electronic address: sebastien.jacquemont@umontreal.ca.
Centre Hospitalier Universitaire Sainte-Justine · CACardiff University · GBInstitut Pasteur · FRChildren's Hospital of Philadelphia · USInstitut Universitaire de Gériatrie de Montréal · CABoston Children's Hospital · USCentre for Mental Health · GBHEC Montréal · CAInstitut Universitaire en Santé Mentale de Québec · CAMaastricht University · NLMontreal Neurological Institute and Hospital · CAUniversity of California, Los Angeles · US

Funding

Ultrascale Machine Learning to Empower Discovery in Alzheimers Disease BiobanksU01AG068057 · NIA · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Christos Davatzikos, Heng Huang · 2020 to 2026
$20.7M
TR&D3: Intrinsic Surface MappingP41EB015922 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI VAN HORN, JOHN DARRELL · 2012 to 2022
$14.1M
Training U54EB020403 · NIBIB · UNIVERSITY OF SOUTHERN CALIFORNIA · PI THOMPSON, PAUL M · 2014 to 2018
$10.1M
National Neuropsychological Network (NNN)R01MH118514 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DANIEL L DRANE, David W. Loring · 2019 to 2026
$9.4M
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
Human Translational Applications Core (HTA - Core) (7 of 8)PL1MH083271 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI BILDER, ROBERT M · 2007 to 2011
$5.8M
Integrative Molecular and Phenotype Analysis of 22q11.2 Deletion SyndromeR01MH100900 · NIMH · STANFORD UNIVERSITY · PI HALLMAYER, JOACHIM F · 2013 to 2017
$4.8M
Translational Methods/Facilities Core (TMF - Core) (8 of 8)PL1NS062410 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI EVANS, CHRISTOPHER J. · 2007 to 2011
$4.6M
Trauma and Genomics Modulate Brain Structure across Common Psychiatric DisordersR01MH111671 · NIMH · DUKE UNIVERSITY · PI MARK W LOGUE, RAJENDRA A MOREY · 2017 to 2026
$4.4M
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
Translational Models of Memory and Cognitive Control (Component 5 of 8)RL1MH083270 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI JENTSCH, J. DAVID · 2007 to 2011
$2.6M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/L010305/1NIA NIH HHS U01 AG068057NIBIB NIH HHS P41 EB015922NIBIB NIH HHS U54 EB020403NIDA NIH HHS RL1 DA024853NIDCR NIH HHS UL1 DE019580NIMH NIH HHS PL1 MH083271NIMH NIH HHS R01 MH085953NIMH NIH HHS R01 MH100900NIMH NIH HHS R01 MH111671NIMH NIH HHS R01 MH116147NIMH NIH HHS R01 MH118514NIMH NIH HHS R21 MH116473NIMH NIH HHS R37 MH085953NIMH NIH HHS RL1 MH083268NIMH NIH HHS RL1 MH083269NIMH NIH HHS RL1 MH083270NIMH NIH HHS U01 MH119690NIMH NIH HHS U01 MH119736NIMH NIH HHS U01 MH119739NINDS NIH HHS PL1 NS062410NLM NIH HHS RL1 LM009833Wellcome TrustWellcome Trust 100202/Z/12/Z
6 · The paper itself

Abstract

backgroundPolygenicity and genetic heterogeneity pose great challenges for studying psychiatric conditions. Genetically informed approaches have been implemented in neuroimaging studies to address this issue. However, the effects on functional connectivity of rare and common genetic risks for psychiatric disorders are largely unknown. Our objectives were to estimate and compare the effect sizes on brain connectivity of psychiatric genomic risk factors with various levels of complexity: oligogenic copy number variants (CNVs), multigenic CNVs, and polygenic risk scores (PRSs) as well as idiopathic psychiatric conditions and traits.

methodsResting-state functional magnetic resonance imaging data were processed using the same pipeline across 9 datasets. Twenty-nine connectome-wide association studies were performed to characterize the effects of 15 CNVs (1003 carriers), 7 PRSs, 4 idiopathic psychiatric conditions (1022 individuals with autism, schizophrenia, bipolar conditions, or attention-deficit/hyperactivity disorder), and 2 traits (31,424 unaffected control subjects).

resultsEffect sizes on connectivity were largest for psychiatric CNVs (estimates: 0.2-0.65 z score), followed by psychiatric conditions (0.15-0.42), neuroticism and fluid intelligence (0.02-0.03), and PRSs (0.01-0.02). Effect sizes of CNVs on connectivity were correlated to their effects on cognition and risk for disease (r = 0.9, p = 5.93 × 10

conclusionsHeterogeneity and polygenicity affect our ability to detect brain connectivity alterations underlying psychiatric manifestations.

Indexed as

Genetic HeterogeneityPsychiatryBrainDNA Copy Number VariationsGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMultifactorial InheritanceAutism spectrum disorderCopy number variantFunctional connectivityGenetic heterogeneityPolygenic scoreTransdiagnostic approach

Identifiers

PMID36372570
PMCPMC10936195
OpenAlexW4294168437

What OpenQuestion holds

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Registered trials

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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.