The genetic architecture of the human cerebral cortex

Published March 20, 2020 | Version v1

Journal article Open

1. 1Psychiatric Genetics, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. 2Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA. 3School of Psychology, University of Queensland, Brisbane, QLD, Australia. 4School of Biomedical Sciences, Queensland University

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

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