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The genetic architecture of the human cerebral cortex
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2020 (English)In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 367, no 6484, p. 1340-+Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
American Association for the Advancement of Science (AAAS) , 2020. Vol. 367, no 6484, p. 1340-+
National Category
Medical Genetics and Genomics
Identifiers
URN: urn:nbn:se:umu:diva-178453DOI: 10.1126/science.aay6690ISI: 000522167400044PubMedID: 32193296Scopus ID: 2-s2.0-85082081461OAI: oai:DiVA.org:umu-178453DiVA, id: diva2:1516630
Funder
NIH (National Institute of Health), U54 EB020403NIH (National Institute of Health), U01 AG024904NIH (National Institute of Health), U24 AG21886NIH (National Institute of Health), R03 AG054936NIH (National Institute of Health), R01 LM012535Wellcome trust, 102215/2/13/2Knut and Alice Wallenberg FoundationAvailable from: 2021-01-12 Created: 2021-01-12 Last updated: 2025-02-10Bibliographically approved

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Andersson, MicaelNyberg, Lars

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