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The genetic architecture of the human cerebral cortex

  • Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)-Genetics working group
  • Queensland Institute of Medical Research
  • University of Southern California
  • University of Queensland
  • Queensland University of Technology
  • University of Murcia
  • Radboud University Nijmegen
  • Genentech Incorporated
  • University of California at Los Angeles
  • University of North Carolina at Chapel Hill
  • University of Oslo
  • Diakonhjemmet Hospital
  • Karolinska Institutet
  • Royal College of Surgeons in Ireland
  • Yale University
  • University of Texas at Brownsville and Texas Southmost College
  • Umeå University
  • Murdoch University
  • Duke University
  • University of Newcastle
  • University of Toronto
  • Utrecht University
  • University of Greifswald
  • University of Münster
  • University of Galway
  • Douglas Mental Health University Institute
  • McGill University
  • Lieber Institute for Brain Development
  • University of California at San Diego
  • University of Cape Town
  • Universidade Estadual de Campinas
  • BRAINN - Brazilian Institute of Neuroscience and Neurotechnology
  • Vrije Universiteit Amsterdam
  • Technische Universität Dresden
  • Berlin Institute of Health at Charité - Universitätsmedizin Berlin
  • Cardiff University
  • Department of Veterans Affairs
  • National Institutes of Natural Sciences - National Institute for Physiological Sciences
  • Massachusetts General Hospital
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  • Illinois Institute of Technology
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  • Brain Research New Zealand - Rangahau Roro Aotearoa
  • University of Amsterdam
  • Helmholtz Zentrum München - German Research Center for Environmental Health
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  • University of Liverpool
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  • Indiana University Bloomington
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  • Georgia State University
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  • University of Vermont
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  • Erasmus University Rotterdam
  • University of Groningen
  • University of Bristol
  • University of Bath, Department of Psychology
  • German Center for Neurodegenerative Diseases
  • University of Würzburg
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  • Leiden University
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Research output: Contribution to journalArticlepeer-review

Abstract

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.

Original languageEnglish
Article numberaay6690
JournalScience
Volume367
Issue number6484
DOIs
Publication statusPublished - 20 Mar 2020
Externally publishedYes

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