Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

The genetic architecture of the human cerebral cortex

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 McMahon, Natalia Shatokhina, Leo Zsembik, Sophia I. Thomopoulos, Alyssa H. Zhu, Lachlan T. Strike, Ingrid Agartz, Saud Alhusaini, Marcio Almeida, Dag Alnæs, Inge K. Amlien, Micael Andersson, Tyler Ard, Nicola J. Armstrong, Allison E. Ashley‐Koch, Joshua Atkins, Manon Bernard, Rachel M. Brouwer, Elizabeth E.L. Buimer, Robin Bülow, Christian Bürger, Dara M. Cannon, M. Mallar Chakravarty, Qiang Chen, J. Cheung, Baptiste Couvy‐Duchesne, Anders M. Dale, Shareefa Dalvie, Tânia Kawasaki de Araujo, Greig I. de Zubicaray, Sonja M. C. de Zwarte, Anouk den Braber, Nhat Trung Doan, Katharina Dohm, Stefan Ehrlich, Hannah-Ruth Engelbrecht, Susanne Erk, Chun Chieh Fan, Iryna O. Fedko, Sonya Foley, Judith M. Ford, Masaki Fukunaga, Melanie E. Garrett, Tian Ge, Sudheer Giddaluru, Aaron L. Goldman, Melissa J. Green, Nynke A. Groenewold, Dominik Grotegerd, Tiril P. Gurholt, Boris A. Gutman, Narelle K. Hansell, Mathew A. Harris, Marc Harrison, Courtney C. Haswell, Michael A. Hauser, Stefan Herms, Dirk J. Heslenfeld, New Fei Ho, David Hoehn, Per Hoffmann, Laurena Holleran, Martine Hoogman, Jouke‐Jan Hottenga, Masashi Ikeda, Deborah Janowitz, Iris E. Jansen, Tianye Jia, Christiane Jockwitz, Ryota Kanai, Sherif Karama, Dalia Kasperavičiūtė, Tobias Kaufmann, Sinéad Kelly, Masataka Kikuchi, Marieke Klein, Michael Knapp, Annchen R. Knodt, Bernd Krämer, Max Lam, T. Lancaster, Phil H. Lee, Tristram A. Lett, Lindsay B. Lewis, Íscia Lopes‐Cendes, Michelle Luciano, Fabìo Macciardi, André F. Marquand, Samuel R. Mathias, Tracy R. Melzer, Yuri Milaneschi

Science · 2020

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Summary

This genome-wide association meta-analysis of brain MRI data from 51,665 individuals identified 237 genetic loci associated with variation in human cortical surface area and thickness. Bioinformatic enrichment analyses suggest that genetic influences on total surface area operate through regulatory elements active in fetal neural progenitor cells, consistent with the radial unit hypothesis, whilst thickness variation appears shaped by regulatory mechanisms active in mature brain tissue. The study demonstrates substantial heritability for cortical structure and reveals opposing genetic effects on surface area and thickness.

UK applicability

This fundamental neuroscience research on genetic determinants of brain structure has limited direct application to UK farming systems, soil health, or food-based interventions. However, the findings may inform future nutritional research examining dietary influences on cortical development if those pathways intersect with the identified genetic regulatory networks.

Key measures

Genome-wide association study results; cortical surface area and average thickness; heritability estimates (34% for surface area, 26% for thickness); genetic correlation between surface area and thickness (r_G = −0.32); number of significant loci at multiple testing thresholds

Outcomes reported

The study identified 237 genetic loci significantly associated with variation in human cortical surface area and thickness across 51,665 individuals. Bioinformatic analyses revealed that surface area is influenced by genetic variants affecting neural progenitor cell regulation during fetal development, whilst thickness is influenced by regulatory elements active in adult brain tissue.

Theme
General food systems / other
Subject
Other / interdisciplinary
Study type
Meta-analysis
Study design
Meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Laboratory / in vitro
DOI
10.1126/science.aay6690
Catalogue ID
SNmohdwgm4-ekgywb

Topic tags

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