The genetic architecture of the human cerebral cortex

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • 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
  • Umeå University
  • Murdoch University
  • Duke University
  • University of Newcastle
  • University of Toronto
  • Utrecht University
  • University of Greifswald
  • University of Münster
  • University of Galway
  • McGill University
  • Lieber Institute for Brain Development
  • University of California at San Diego
  • State University of Campinas
  • Brazilian Institute of Neuroscience and Neurotechnology
  • Vrije Universiteit Amsterdam (VU)
  • Charité – Universitätsmedizin Berlin

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.

Details

Original languageEnglish
Article numberaay6690
Pages (from-to)1-14
Number of pages14
JournalScience
Volume367
Issue number6484
Publication statusE-pub ahead of print - 20 Mar 2020
Peer-reviewedYes

External IDs

PubMed 32193296
ORCID /0000-0003-2132-4445/work/149437508
ORCID /0000-0002-1753-7811/work/149439172

Keywords

Sustainable Development Goals

ASJC Scopus subject areas