Evidence map›Paper›PMID 37592024›Full record

SynthesisNature genetics2023

Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes.

Varun Warrier, Eva-Maria Stauffer, Qin Qin Huang, Emilie M Wigdor, Eric A W Slob, Jakob Seidlitz, Lisa Ronan, Sofie L Valk, Travis T Mallard, Andrew D Grotzinger and 11 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 3 pooled it
23.5field-weighted citation impact, top 1% 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

60 citing papers in PubMed, 3 syntheses or guidelines pooled it, 75 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Review
  6. Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026
    Review
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  12. Review
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  18. MidbrainbioRxiv : the preprint server for biology · 2026
    Article
  19. Genetic insights on the mechanisms of human cortical folding.bioRxiv : the preprint server for biology · 2026
    Article
  20. 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

21 authors at 10 institutions in 6 countries.

Varun WarrierDepartment of Psychiatry, University of Cambridge, Cambridge, UK. vw260@medschl.cam.ac.uk.ORCID http://orcid.org/0000-0003-4532-8571
Eva-Maria StaufferDepartment of Psychiatry, University of Cambridge, Cambridge, UK.
Qin Qin HuangWellcome Trust Sanger Institute, Hinxton, UK.ORCID http://orcid.org/0000-0003-3073-717X
Emilie M WigdorWellcome Trust Sanger Institute, Hinxton, UK.
Eric A W SlobMedical Research Council Biostatistics Unit, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-1644-0735
Jakob SeidlitzDepartment of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-8164-7476
Lisa RonanDepartment of Psychiatry, University of Cambridge, Cambridge, UK.
Sofie L ValkInstitute of Neuroscience and Medicine, Brain & Behaviour (INM-7), Research Centre Jülich, FZ Jülich, Jülich, Germany.
Travis T MallardPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Andrew D GrotzingerDepartment of Psychology and Neuroscience, University of Colorado at Boulder, Boulder, CO, USA.ORCID http://orcid.org/0000-0001-7852-9244
Rafael Romero-GarciaDepartment of Psychiatry, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-5199-4573
Simon Baron-CohenDepartment of Psychiatry, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-9217-2544
Daniel H GeschwindDepartment of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-2896-3450
Madeline A LancasterMRC Laboratory of Molecular Biology, Cambridge Biomedical Campus, Francis Crick Avenue, Cambridge, UK.ORCID http://orcid.org/0000-0003-2324-8853
Graham K MurrayDepartment of Psychiatry, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0001-8296-1742
Michael J GandalDepartment of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-5800-5128
Aaron Alexander-BlochDepartment of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0001-6554-1893
Hyejung Won *Department of Genetics and the Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID http://orcid.org/0000-0003-3651-0566
Hilary C Martin *Wellcome Trust Sanger Institute, Hinxton, UK.ORCID http://orcid.org/0000-0002-4454-9084
Edward T Bullmore *Department of Psychiatry, University of Cambridge, Cambridge, UK.
Richard A I BethlehemDepartment of Psychiatry, University of Cambridge, Cambridge, UK. rb643@cam.ac.uk.ORCID http://orcid.org/0000-0002-0714-0685
University of Cambridge · GBChildren's Hospital of Philadelphia · USWellcome Sanger Institute · GBHarvard University · USMax Planck Institute for Human Cognitive and Brain Sciences · DEMRC Laboratory of Molecular Biology · GBThe University of Queensland · AUUniversity of California, Los Angeles · USUniversity of Colorado Boulder · USUniversity of North Carolina at Chapel Hill · US

Funding

ABCD-USA Consortium: Coordinating CenterU24DA041147 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SANDRA A BROWN, TERRY L. JERNIGAN · 2015 to 2026
$54.7M
ABCD-USA Consortium: Data Analysis, Informatics and Resource CenterU24DA041123 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANDERS M DALE · 2015 to 2026
$51.5M
Adolescent Substance Use Initiation: Disentangling neurocognitive risks from consequences using longitudinal and genetically-informed methodsU01DA041120 · NIDA · UNIVERSITY OF MINNESOTA · PI Monica Luciana, Sylia Wilson · 2015 to 2026
$34.5M
ABCD-USA Consortium: Research ProjectU01DA041089 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Joanna Jacobus, Susan F. Tapert · 2015 to 2026
$31.7M
Prospective Research Studies of Maturation (PRISM)- Research ProjectU01DA041134 · NIDA · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI ERIN MCGLADE, PERRY FRANKLIN RENSHAW · 2015 to 2026
$29.2M
ABCD-USA CONSORTIUM: RESEARCH PROJECTU01DA041048 · NIDA · CHILDREN'S HOSPITAL OF LOS ANGELES · PI Megan Marie Herting, ELIZABETH R SOWELL · 2015 to 2026
$28.7M
ABCD-USA Consortium: Research ProjectU01DA041106 · NIDA · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mary M Heitzeg, Chandra Sekhar Sripada · 2015 to 2026
$24.9M
FIU-ABCD: Pathways and Mechanisms to Addiction in the Latino Youth of South FloridaU01DA041156 · NIDA · FLORIDA INTERNATIONAL UNIVERSITY · PI Raul Gonzalez, Angela R Laird · 2015 to 2026
$22.8M
ABCD-USA Consortium: Research ProjectU01DA041148 · NIDA · OREGON HEALTH & SCIENCE UNIVERSITY · PI Damien A Fair, Rebekah S Huber · 2015 to 2026
$22.3M
ABCD-USA: NYC Research ProjectU01DA041174 · NIDA · YALE UNIVERSITY · PI Arielle Ryan Baskin-Sommers, Betty J Casey · 2015 to 2026
$19.7M
Adolescent Brain Cognitive Development (ABCD) Prospective Research in Studies of Maturation (PRISM) ConsortiumU01DA041117 · NIDA · UNIVERSITY OF MARYLAND BALTIMORE · PI LINDA CHANG, THOMAS M ERNST · 2015 to 2026
$19.5M
15/21 ABCD-USA Consortium: Research Project Site at LIBRU01DA050989 · NIDA · LAUREATE INSTITUTE FOR BRAIN RESEARCH · PI ROBIN L AUPPERLE, MARTIN P. PAULUS · 2020 to 2026
$14.7M
NIDA NIH HHS U01 DA041022NIDA NIH HHS U01 DA041025NIDA NIH HHS U01 DA041028NIDA NIH HHS U01 DA041048NIDA NIH HHS U01 DA041089NIDA NIH HHS U01 DA041093NIDA NIH HHS U01 DA041106NIDA NIH HHS U01 DA041117NIDA NIH HHS U01 DA041120NIDA NIH HHS U01 DA041134NIDA NIH HHS U01 DA041148NIDA NIH HHS U01 DA041156NIDA NIH HHS U01 DA041174NIDA NIH HHS U01 DA050987NIDA NIH HHS U01 DA050988NIDA NIH HHS U01 DA050989NIDA NIH HHS U01 DA051016NIDA NIH HHS U01 DA051018NIDA NIH HHS U01 DA051037NIDA NIH HHS U01 DA051038NIDA NIH HHS U01 DA051039NIDA NIH HHS U24 DA041123NIDA NIH HHS U24 DA041147NIMH NIH HHS K08 MH120564NIMH NIH HHS R01 MH121521NIMH NIH HHS R01 MH123922NIMH NIH HHS R01 MH137578NIMH NIH HHS T32 MH019112Wellcome Trust 214322
6 · The paper itself

Abstract

Our understanding of the genetics of the human cerebral cortex is limited both in terms of the diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a genome-wide association meta-analysis of 13 structural and diffusion magnetic resonance imaging-derived cortical phenotypes, measured globally and at 180 bilaterally averaged regions in 36,663 individuals and identified 4,349 experiment-wide significant loci. These phenotypes include cortical thickness, surface area, gray matter volume, measures of folding, neurite density and water diffusion. We identified four genetic latent structures and causal relationships between surface area and some measures of cortical folding. These latent structures partly relate to different underlying gene expression trajectories during development and are enriched for different cell types. We also identified differential enrichment for neurodevelopmental and constrained genes and demonstrate that common genetic variants associated with cortical expansion are associated with cephalic disorders. Finally, we identified complex interphenotype and inter-regional genetic relationships among the 13 phenotypes, reflecting the developmental differences among them. Together, these analyses identify distinct genetic organizational principles of the cortex and their correlates with neurodevelopment.

Indexed as

Cerebral CortexGenome-Wide Association StudyBrainHumansNeuroimagingPhenotype

Identifiers

PMID37592024
PMCPMC10600728
OpenAlexW4385955298

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.