The genetic architecture of the human cerebral cortex

Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)-Genetics working group, Katrina L. Grasby*, Neda Jahanshad, Jodie N. Painter, Lucía Colodro-Conde, Janita Bralten, Derrek P. Hibar, Penelope A. Lind, Fabrizio Pizzagalli, Christopher R.K. Ching, Mary Agnes B. McMahon, Natalia Shatokhina, Leo C.P. Zsembik, Sophia I. Thomopoulos, Alyssa H. Zhu, Lachlan T. Strike, Ingrid Agartz, Saud Alhusaini, Marcio A.A. Almeida, Dag AlnæsInge K. Amlien, Micael Andersson, Tyler Ard, Nicola J. Armstrong, Allison Ashley-Koch, Joshua R. Atkins, Manon Bernard, Rachel M. Brouwer, Elizabeth E.L. Buimer, Robin Bülow, Christian Bürger, Dara M. Cannon, Mallar Chakravarty, Qiang Chen, Joshua W. Cheung, Baptiste Couvy-Duchesne, Anders M. Dale, Shareefa Dalvie, Tânia K. de Araujo, Greig I. de Zubicaray, Sonja M.C. de Zwarte, Anouk den Braber, Nhat Trung Doan, Katharina Dohm, Tianye Jia, Katherine E. Tansey, Esther Walton, Zuo Zhang, Erin B. Quinlan, Sylvane Desrivières, Gunter Schumann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

422 Citations (Scopus)
127 Downloads (Pure)


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
Article numberaay6690
Number of pages17
Issue number6484
Early online date20 Mar 2020
Publication statusPublished - 20 Mar 2020


Dive into the research topics of 'The genetic architecture of the human cerebral cortex'. Together they form a unique fingerprint.

Cite this