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The genetic architecture of the human cerebral cortex

Grasby, KL; Jahanshad, N; Painter, JN; Colodro-Conde, L; Bralten, J; Hibar, DP; Lind, PA; ... Enhancing NeuroImaging Genetics through Meta-Analysis Consortium, .; + view all (2020) The genetic architecture of the human cerebral cortex. Science , 367 (6484) , Article eaay6690. 10.1126/science.aay6690. Green open access

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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.

Type: Article
Title: The genetic architecture of the human cerebral cortex
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1126/science.aay6690
Publisher version: https://doi.org/10.1126/science.aay6690
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher's terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
URI: https://discovery.ucl.ac.uk/id/eprint/10094161
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