The genetic architecture of the human cerebral cortex.
journal contributionposted on 30.03.2021, 13:13 by Katrina L Grasby, Saud Alhusaini, Norman Delanty, Christopher D. Whelan, Colin P. Doherty, Gianpiero Cavalleri, ENIGMA Consortium
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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CommentsThis is the author’s version of the work. It is posted here by permission of the AAAS for personal use, not for redistribution. The definitive version was published in Science on March 20. 367. DOI: https://doi.org/10.1126/science.aay6690
Published CitationGrasby KL, et al The genetic architecture of the human cerebral cortex. Science. 2020 ;367(6484):eaay6690.
Publication Date20 March 2020
- Beaumont Hospital
- FutureNeuro Centre
- School of Pharmacy and Biomolecular Sciences
- Neurological and Psychiatric Disorders
PublisherAmerican Association for the Advancement of Science (AAAS)
- Accepted Version (Postprint)
Alzheimer’s Disease Neuroimaging InitiativeCHARGE ConsortiumEPIGEN ConsortiumIMAGEN ConsortiumSYS ConsortiumParkinson’s Progression Markers InitiativeEnhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working groupCerebral CortexParkinson DiseaseMagnetic Resonance ImagingOrgan SizeBrain MappingCognitionAttention Deficit Disorder with HyperactivityGenetic VariationGenome-Wide Association StudyGenetic Loci