The genetic architecture of the human cerebral cortex

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    Author
    Grasby, KL; Jahanshad, N; Painter, JN; Colodro-Conde, L; Bralten, J; Hibar, DP; Lind, PA; Pizzagalli, F; Ching, CRK; McMahon, MAB; ...
    Date
    2020-03-20
    Source Title
    Science
    Publisher
    AMER ASSOC ADVANCEMENT SCIENCE
    University of Melbourne Author/s
    Pantelis, Christos; Schmaal, Lianne; Baune, Bernhard; Ames, David
    Affiliation
    Psychiatry
    Centre for Youth Mental Health
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    Document Type
    Journal Article
    Citations
    Grasby, K. L., Jahanshad, N., Painter, J. N., Colodro-Conde, L., Bralten, J., Hibar, D. P., Lind, P. A., Pizzagalli, F., Ching, C. R. K., McMahon, M. A. B., Shatokhina, N., Zsembik, L. C. P., Thomopoulos, S. I., Zhu, A. H., Strike, L. T., Agartz, I., Alhusaini, S., Almeida, M. A. A., Alnaes, D. ,... Medland, S. E. (2020). The genetic architecture of the human cerebral cortex. SCIENCE, 367 (6484), pp.1340-+. https://doi.org/10.1126/science.aay6690.
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    Access this item via the Open Access location
    URI
    http://hdl.handle.net/11343/254050
    DOI
    10.1126/science.aay6690
    Open Access URL
    Accepted version
    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.

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