The genetic architecture of the human cerebral cortex

Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)-Genetics working group

Research output: Contribution to journalArticle

25 Scopus citations

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.

Original languageEnglish (US)
Article numberaay6690
JournalScience
Volume367
Issue number6484
DOIs
StatePublished - Mar 20 2020

ASJC Scopus subject areas

  • General

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    Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)-Genetics working group (2020). The genetic architecture of the human cerebral cortex. Science, 367(6484), [aay6690]. https://doi.org/10.1126/science.aay6690