Evidence map›Paper›PMID 35113692›Full record

ArticleScience (New York, N.Y.)2022

Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.

Carolina Makowski, Dennis van der Meer, Weixiu Dong, Hao Wang, Yan Wu, Jingjing Zou, Cin Liu, Sara B Rosenthal, Donald J Hagler, Chun Chieh Fan and 8 more

Open access · greenAbstract read
In one paragraph

Article in Science (New York, N.Y.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 1 pooled it
5.4field-weighted citation impact, top 3% 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

50 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Genome-Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026
    Article
  10. Review
  11. Article
  12. Article
  13. Cerebral cortical structures linked to intelligence.bioRxiv : the preprint server for biology · 2025
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Longitudinal Sex-at-Birth and Age Analyses of Cortical Structure in the ABCD Study.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    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

18 authors at 3 institutions in 5 countries.

Carolina MakowskiCenter for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.ORCID 0000-0002-8816-4549
Dennis van der MeerNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-0466-386X
Weixiu DongDepartment of Bioengineering, University of California, San Diego, CA, USA.ORCID 0000-0003-1059-5653
Hao WangCenter for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.ORCID 0000-0002-1518-9702
Yan WuDepartment of Bioengineering, University of California, San Diego, CA, USA.ORCID 0000-0002-9702-330X
Jingjing ZouDivision of Biostatistics, Herbert Wertheim School of Public Health and Human Longevity Science, University of California, San Diego, CA, USA.ORCID 0000-0002-4749-105X
Cin LiuCenter for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.ORCID 0000-0002-9178-1433
Sara B RosenthalCenter for Computational Biology and Bioinformatics, University of California, San Diego, CA, USA.ORCID 0000-0002-6548-9658
Donald J HaglerCenter for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.
Chun Chieh FanCenter for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.ORCID 0000-0001-9437-2128
William S KremenDepartment of Psychiatry and Center for Behavior Genetics of Aging, University of California, San Diego, CA, USA.ORCID 0000-0002-8629-5609
Ole A AndreassenNorwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID 0000-0002-4461-3568
Terry L JerniganCenter for Human Development, University of California, San Diego, CA, USA.ORCID 0000-0002-2011-9370
Anders M DaleCenter for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.ORCID 0000-0002-6126-2966
Kun ZhangDepartment of Bioengineering, University of California, San Diego, CA, USA.ORCID 0000-0002-7596-5224
Peter M VisscherInstitute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.ORCID 0000-0002-2143-8760
Jian YangInstitute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia.ORCID 0000-0003-2001-2474
Chi-Hua ChenCenter for Multimodal Imaging and Genetics, University of California, San Diego, CA, USA.ORCID 0000-0001-5318-047X
University of California San Diego · USOslo University Hospital · NOThe University of Queensland · AU

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
The VETSA Longitudinal Twin Study of Cognition and Aging (VETSA 4)R01AG050595 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ELMAN, JEREMY A, FRANZ, CAROL ELAINE · 2015 to 2024
$28.0M
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
The VETSA Longitudinal MRI Twin Study of AgingR01AG022381 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI KREMEN, WILLIAM S. · 2003 to 2019
$22.3M
ABCD-USA: NYC Research ProjectU01DA041174 · NIDA · YALE UNIVERSITY · PI Arielle Ryan Baskin-Sommers, Betty J Casey · 2015 to 2026
$19.7M
CIHRNIA NIH HHS R01 AG022381NIA NIH HHS R01 AG050595NIA NIH HHS R01 AG064955NIA NIH HHS R01 AG076838NIA NIH HHS R56 AG061163NIDA 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 R01 MH118281NIMH NIH HHS R01 MH122688
6 · The paper itself

Abstract

To determine the impact of genetic variants on the brain, we used genetically informed brain atlases in genome-wide association studies of regional cortical surface area and thickness in 39,898 adults and 9136 children. We uncovered 440 genome-wide significant loci in the discovery cohort and 800 from a post hoc combined meta-analysis. Loci in adulthood were largely captured in childhood, showing signatures of negative selection, and were linked to early neurodevelopment and pathways associated with neuropsychiatric risk. Opposing gradations of decreased surface area and increased thickness were associated with common inversion polymorphisms. Inferior frontal regions, encompassing Broca's area, which is important for speech, were enriched for human-specific genomic elements. Thus, a mixed genetic landscape of conserved and human-specific features is concordant with brain hierarchy and morphogenetic gradients.

Indexed as

Genetic Association StudiesGenetic LociGenetic VariationAdultAgedAged, 80 and overCerebral CortexChildChromatinCohort StudiesFemaleGene OntologyGenome, HumanGenome-Wide Association StudyHumansMagnetic Resonance ImagingChromatin

Identifiers

PMID35113692
PMCPMC9469470
OpenAlexW4210468311

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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.