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The genetic architecture of the human cerebral cortex

MPS-Authors
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Schlag,  Fenja
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
International Max Planck Research School for Language Sciences, MPI for Psycholinguistics, Max Planck Society;

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Shapland,  Chin Yang
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

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Van Donkelaar,  Marjolein M. J.
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

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Verhoef,  Ellen
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
International Max Planck Research School for Language Sciences, MPI for Psycholinguistics, Max Planck Society;

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Fisher,  Simon E.
Donders Institute for Brain, Cognition and Behaviour, External Organizations;
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;

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Francks,  Clyde
Donders Institute for Brain, Cognition and Behaviour, External Organizations;
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
Imaging Genomics, MPI for Psycholinguistics, Max Planck Society;

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St Pourcain,  Beate
Donders Institute for Brain, Cognition and Behaviour, External Organizations;
Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society;
Bristol Medical School;
Population genetics of human communication, MPI for Psycholinguistics, Max Planck Society;

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Supplementary Material (public)

aay6690_Grasby_SM.pdf
(Supplementary material), 5MB

Grasby_etal_AcceptedManuscript.docx
(Supplementary material), 10MB

Citation

Grasby, K. L., Jahanshad, N., Painter, J. N., Colodro-Conde, L., Bralten, J., Hibar, D. P., et al. (2020). The genetic architecture of the human cerebral cortex. Science, 367(6484): eaay6690. doi:10.1126/science.aay6690.


Cite as: http://hdl.handle.net/21.11116/0000-0005-E8FE-8
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.