ArticleCell reports2023
The molecular genetic landscape of human brain size variation.
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Article in Cell reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5citing papers in PubMed
1.6field-weighted citation impact, top 14% of its field
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Developmental signaling reveals functionally enriched human-specific gene regulation in telencephalic progenitors.bioRxiv : the preprint server for biology · 2026Article
- Molecular signatures of cortical expansion in the human foetal brain.Nature communications · 2024Article
- Integration of estimated regional gene expression with neuroimaging and clinical phenotypes at biobank scale.PLoS biology · 2024Article
- Neuroanatomical, transcriptomic, and molecular correlates of math ability and their prognostic value for predicting learning outcomes.Science advances · 2024Article
- Molecular signatures of cortical expansion in the human fetal brain.bioRxiv : the preprint server for biology · 2024Article
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Authors and funding
25 authors at 12 institutions in 6 countries.
Jakob SeidlitzLifespan Brain Institute, The Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, PA 19104, USA; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: jakob.seidlitz@pennmedicine.upenn.edu.
Travis T MallardPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Psychiatry, Harvard Medical School, Boston, MA 02142, USA.
Jacob W VogelDepartment of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA; Lifespan Informatics and Neuroimaging Center, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Younga H LeePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Psychiatry, Harvard Medical School, Boston, MA 02142, USA.
Varun WarrierDepartment of Psychiatry, University of Cambridge, Cambridge CB2 1TN, UK; Department of Psychology, University of Cambridge, Cambridge CB2 1TN, UK.
Gareth BallDevelopmental Imaging, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Melbourne, VIC 3052, Australia.
Oskar HanssonClinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Malmö P663+Q9, Sweden; Memory Clinic, Skåne University Hospital, Malmö P663+Q9, Sweden.
Leanna M HernandezSemel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA 90024, USA.
Ayan S MandalLifespan Brain Institute, The Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, PA 19104, USA; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Konrad WagstylWellcome Centre for Human Neuroimaging, University College London, London WC1N 3AR, UK.
Michael V LombardoLaboratory for Autism and Neurodevelopmental Disorders, Center for Neuroscience and Cognitive Systems @UniTn, Istituto Italiano di Tecnologia, 38068 Rovereto, Italy.
Eric CourchesneDepartment of Neuroscience, University of California, San Diego, San Diego, CA 92093, USA; Autism Center of Excellence, University of California, San Diego, San Diego, CA 92093, USA.
Joseph T GlessnerThe Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Theodore D SatterthwaiteLifespan Brain Institute, The Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, PA 19104, USA; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA; Lifespan Informatics and Neuroimaging Center, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Richard A I BethlehemDepartment of Psychiatry, University of Cambridge, Cambridge CB2 1TN, UK.
Joshua D BernstockDepartment of Neurosurgery, Brigham and Women's Hospital, Harvard University, Boston, MA 02115, USA; Department of Neurosurgery, Boston Children's Hospital, Harvard University, Boston, MA 02115, USA; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Lifespan Brain Chart Consortium
Shinya TasakiRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL 60612, USA.
Bernard NgRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL 60612, USA.
Chris GaiteriRush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL 60612, USA.
Jordan W SmollerPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Psychiatry, Harvard Medical School, Boston, MA 02142, USA; Center for Precision Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA.
Tian GePsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Psychiatry, Harvard Medical School, Boston, MA 02142, USA; Center for Precision Psychiatry, Massachusetts General Hospital, Boston, MA 02114, USA.
Raquel E GurLifespan Brain Institute, The Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, PA 19104, USA; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Michael J GandalLifespan Brain Institute, The Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, PA 19104, USA; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Aaron F Alexander-BlochLifespan Brain Institute, The Children's Hospital of Philadelphia and Penn Medicine, Philadelphia, PA 19104, USA; Department of Child and Adolescent Psychiatry and Behavioral Science, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Children's Hospital of Philadelphia · USBroad Institute · USRush University Medical Center · USUniversity of Cambridge · GBBrigham and Women's Hospital · USItalian Institute of Technology · ITLifespan · USMalmö University · SEThe University of Melbourne · AUUniversity of California, Los Angeles · USUniversity of San Diego · USWellcome Centre for Human Neuroimaging · GB
Funding
The Intellectual and Developmental Disabilities Research Center (IDDRC) at CHOP/PennP50HD105354 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ERIC D MARSH, ROBERT Thomas SCHULTZ · 2021 to 2026
$9.2MLongitudinal Mapping of Network Development Underlying Executive Dysfunction in AdolescenceR01MH113550 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI Danielle Smith Bassett, Theodore Satterthwaite · 2018 to 2026
$6.9MSCHIZOPHRENIA: A NEUROPSYCHIATRIC PERSPECTIVET32MH019112 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI GUR, RAQUEL E · 1990 to 2024
$6.2MPersonalized Functional Network Modeling to Characterize and Predict Psychopathology in YouthR01EB022573 · NIBIB · UNIVERSITY OF PENNSYLVANIA · PI Yong Fan, Theodore Satterthwaite · 2016 to 2026
$6.0MInter-modal Coupling Image AnalyticsR01MH112847 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI Theodore Satterthwaite, Russell Takeshi Shinohara · 2017 to 2026
$5.9MPrecision mapping of individualized executive networks in youthR37MH125829 · NIMH · UNIVERSITY OF MINNESOTA · PI Damien A Fair, Theodore Satterthwaite · 2021 to 2026
$4.7MReproducible imaging-based brain growth charts for psychiatryR01MH120482 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI MILHAM, MICHAEL PETER, SATTERTHWAITE, THEODORE · 2019 to 2023
$3.5MPartners Healthcare Training Program in Precision and Genomic MedicineT32HG010464 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI HEIDI L REHM, JORDAN W SMOLLER · 2019 to 2026
$3.1MNIPreps: integrating neuroimaging preprocessing workflows across modalities, populations, and speciesRF1MH121867 · NIMH · STANFORD UNIVERSITY · PI POLDRACK, RUSSELL A, ROKEM, ARIEL SHALOM · 2021 to 2022
$1.6MCombined brain and gene network approaches to the developmental hypothesis of schizophreniaK08MH120564 · NIMH · YALE UNIVERSITY · PI ALEXANDER-BLOCH, AARON FELIX · 2019 to 2023
$923kNHGRI NIH HHS T32 HG010464NIBIB NIH HHS R01 EB022573NICHD NIH HHS P50 HD105354NIMH NIH HHS K08 MH120564NIMH NIH HHS R01 MH112847NIMH NIH HHS R01 MH113550NIMH NIH HHS R01 MH120482NIMH NIH HHS R37 MH125829NIMH NIH HHS RF1 MH121867NIMH NIH HHS T32 MH019112Wellcome Trust
Abstract
Human brain size changes dynamically through early development, peaks in adolescence, and varies up to 2-fold among adults. However, the molecular genetic underpinnings of interindividual variation in brain size remain unknown. Here, we leveraged postmortem brain RNA sequencing and measurements of brain weight (BW) in 2,531 individuals across three independent datasets to identify 928 genome-wide significant associations with BW. Genes associated with higher or lower BW showed distinct neurodevelopmental trajectories and spatial patterns that mapped onto functional and cellular axes of brain organization. Expression of BW genes was predictive of interspecies differences in brain size, and bioinformatic annotation revealed enrichment for neurogenesis and cell-cell communication. Genome-wide, transcriptome-wide, and phenome-wide association analyses linked BW gene sets to neuroimaging measurements of brain size and brain-related clinical traits. Cumulatively, these results represent a major step toward delineating the molecular pathways underlying human brain size variation in health and disease.
Indexed as
BrainTranscriptomeAdultGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMolecular BiologyOrgan SizePhenotypebrain developmentCP: Neuroscienceimaging geneticspsychiatric disorderstranscriptomicsTWAS
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