The genetic architecture of the human cerebral cortex

Grasby, Katrina L, Jahanshad, Neda, Painter, Jodie N, Colodro-Conde, Lucia, Bralten, Janita, Hibar, Derrek P, Lind, Penelope A, Pizzagalli, Fabrizio, Ching, Christopher RK, McMahon, Mary Agnes B
et al (show 350 more authors) (2020) The genetic architecture of the human cerebral cortex. SCIENCE, 367 (6484). 1340-+.

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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.

Item Type: Article
Uncontrolled Keywords: Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN Consortium, IMAGEN Consortium, SYS Consortium, Parkinson’s Progression Markers Initiative, Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group, Cerebral Cortex, Humans, Parkinson Disease, Magnetic Resonance Imaging, Organ Size, Brain Mapping, Cognition, Attention Deficit Disorder with Hyperactivity, Genetic Variation, Genome-Wide Association Study, Genetic Loci
Depositing User: Symplectic Admin
Date Deposited: 07 May 2020 10:19
Last Modified: 18 Jan 2023 23:52
DOI: 10.1126/science.aay6690
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