Genetic correlations and genome-wide associations of cortical structure in general population samples of 22824 adults

Edith Hofer, Gennady V. Roshchupkin, Hieab H H Adams, Maria J. Knol, Honghuang Lin, Shuo Li, Habil Zare, Shahzad Ahmad, Nicola J Armstrong, Claudia L Satizabal, Manon Bernard, Joshua C. Bis, Nathan A Gillespie, Michelle Luciano, Aniket Mishra, Markus Scholz, Alexander Teumer, Rui Xia, Xueqiu Jian, Thomas H MosleyYasaman Saba, Lukas Pirpamer, Stephan Seiler, James T Becker, Owen Carmichael, Jerome I. Rotter, Bruce M. Psaty, Oscar L Lopez, Najaf Amin, Sven J. van der Lee, Qiong Yang, Jayandra Jung Himali, Pauline Maillard, Alexa Beiser, Charles DeCarli, Sherif Karama, Lindsay Lewis, Mat Harris, Mark Bastin, Ian Deary, A. Veronica Witte, Frauke Beyer, Markus Loeffler, Karen A Mather, Peter R Schofield, Anbupalam Thalamuthu, John B J Kwok, Margaret J Wright, David Ames, Julian N. Trollor, Jiyang Jiang, Henry Brodaty, Wei Wen, Meike W Vernooij, Albert Hofman, Andre G. Uitterlinden, Wiro J. Niessen, Katharina Wittfeld, Robin Bülow, Uwe Völker, Zdenka Pausova, G Bruce Pike, Sophie Maingault, Fabrice Crivello, Christophe Tzourio, Philippe Amouyel, Bernard Mazoyer, Michael C Neale, Carol E. Franz, Michael J Lyons, Matthew S Panizzon, Ole A. Andreassen, Anders M Dale, Mark A. Logue, Katrina L. Grasby, Neda Jahanshad, Jodie N Painter, Lucía Colodro-Conde, Janita Bralten, Derrek P Hibar, Penelope A Lind, Fabrizio Pizzagalli, Jason L Stein, Paul Thompson, Sarah E. Medland, Perminder S Sachdev, William S. Kremen, Joanna Wardlaw, Arno Villringer, Cornelia van Duijn, Hans J Grabe, William T. Longstreth, Myriam Fornage, Tomas Paus, Stephanie Debette, M Arfan Ikram, Helena Schmidt, Reinhold Schmidt, Sudha Seshadri

Research output: Contribution to journalArticlepeer-review


Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/b-catenin, TGF-b and sonic hedgehog pathways. There is enrichment for genes involved
in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.
Original languageEnglish
Article number4796
JournalNature Communications
Publication statusPublished - 22 Sep 2020


  • geentics of the nervous system
  • neurology
  • genome-wide association studies


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