Authors
Maria J Knol, Raymond A Poot, Tavia E Evans, Claudia L Satizabal, Aniket Mishra, Muralidharan Sargurupremraj, Sandra Van der Auwera, Marie-Gabrielle Duperron, Xueqiu Jian, Isabel C Hostettler, Dianne HK van Dam-Nolen, Sander Lamballais, Mikolaj A Pawlak, Cora E Lewis, Amaia Carrion-Castillo, Theo GM van Erp, Céline S Reinbold, Jean Shin, Markus Scholz, Asta K Håberg, Anders Kämpe, Gloria HY Li, Reut Avinun, Joshua R Atkins, Fang-Chi Hsu, Alyssa R Amod, Max Lam, Ami Tsuchida, Mariël WA Teunissen, Nil Aygün, Yash Patel, Dan Liang, Alexa S Beiser, Frauke Beyer, Joshua C Bis, Daniel Bos, R Nick Bryan, Robin Bülow, Svenja Caspers, Gwenaëlle Catheline, Charlotte AM Cecil, Shareefa Dalvie, Jean-François Dartigues, Charles DeCarli, Maria Enlund-Cerullo, Judith M Ford, Barbara Franke, Barry I Freedman, Nele Friedrich, Melissa J Green, Simon Haworth, Catherine Helmer, Per Hoffmann, Georg Homuth, M Kamran Ikram, Clifford R Jack, Neda Jahanshad, Christiane Jockwitz, Yoichiro Kamatani, Annchen R Knodt, Shuo Li, Keane Lim, WT Longstreth, Fabio Macciardi, Philippe Amouyel, Konstantinos Arfanakis, Benjamin S Aribisala, Mark E Bastin, Ganesh Chauhan, Christopher Chen, Ching-Yu Cheng, Philip L de Jager, Ian J Deary, Debra A Fleischman, Rebecca F Gottesman, Vilmundur Gudnason, Saima Hilal, Edith Hofer, Deborah Janowitz, J Wouter Jukema, David CM Liewald, Lorna M Lopez, Oscar Lopez, Michelle Luciano, Oliver Martinez, Wiro J Niessen, Paul Nyquist, Jerome I Rotter, Tatjana Rundek, Ralph L Sacco, Helena Schmidt, Henning Tiemeier, Stella Trompet, Jeroen van der Grond, Henry Völzke, Joanna M Wardlaw, Lisa Yanek, Jingyun Yang, Ingrid Agartz, Saud Alhusaini, Laura Almasy, David Ames, Katrin Amunts, Ole A Andreassen, Nicola Armstrong, Manon Bernard, John Blangero, Laura ME Blanken, Marco P Boks, Dorret I Boomsma, Adam M Brickman, Henry Brodaty, Randy L Buckner, Jan K Buitelaar, Dara M Cannon, Vaughan J Carr, Stanley V Catts, M Mallar Chakravarty, Qiang Chen, Christopher RK Ching, Aiden Corvin, Benedicto Crespo-Facorro, Joanne E Curran, Gareth E Davies, Eco JC de Geus, Greig I de Zubicaray, Anouk den Braber, Sylvane Desrivières, Allissa Dillman, Srdjan Djurovic, Wayne C Drevets, Ravi Duggirala, Stefan Ehrlich, Susanne Erk, Thomas Espeseth, Iryna O Fedko, Guillén Fernández, Simon E Fisher, Tatiana M Foroud, Tian Ge, Sudheer Giddaluru, David C Glahn, Aaron L Goldman, Robert C Green, Corina U Greven, Oliver Grimm, Narelle K Hansell, Catharina A Hartman, Ryota Hashimoto, Andreas Heinz
Publication date
2024/5/21
Journal
Cell Reports Medicine
Volume
5
Issue
5
Publisher
Elsevier
Description
The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants …
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Scholar articles
MJ Knol, RA Poot, TE Evans, CL Satizabal, A Mishra… - Cell Reports Medicine, 2024