Journal Articles


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 H K van Dam-Nolen
Sander Lamballais
Mikolaj A Pawlak
Cora E Lewis
Amaia Carrion-Castillo
Theo G M van Erp
Céline S Reinbold
Jean Shin
Markus Scholz
Asta K Håberg
Anders Kämpe
Gloria H Y Li
Reut Avinun
Joshua R Atkins
Fang-Chi Hsu
Alyssa R Amod
Max Lam
Ami Tsuchida
Mariël W A 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 A M 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
W T Longstreth
Fabio Macciardi
Outi Mäkitie
Bernard Mazoyer
Sarah E Medland
Susumu Miyamoto
Susanne Moebus
Thomas H Mosley
Ryan Muetzel
Thomas W Mühleisen
Manabu Nagata
Soichiro Nakahara
Nicholette D Palmer
Zdenka Pausova
Adrian Preda
Yann Quidé
William R Reay
Gennady V Roshchupkin
Reinhold Schmidt
Pamela J Schreiner
Kazuya Setoh
Chin Yang Shapland
Stephen Sidney
Beate St Pourcain
Jason L Stein
Yasuharu Tabara
Alexander Teumer
Anne Uhlmann
Aad van der Lugt
Meike W Vernooij
David J Werring
B Gwen Windham
A Veronica Witte
Katharina Wittfeld
Qiong Yang
Kazumichi Yoshida
Han G Brunner
Quentin Le Grand
Kang Sim
Dan J Stein
Donald W Bowden
Murray J Cairns
Ahmad R Hariri
Ching-Lung Cheung
Sture Andersson
Arno Villringer
Tomas Paus
Sven Cichon
Vince D Calhoun
Fabrice Crivello
Lenore J Launer
Tonya White
Peter J Koudstaal
Henry Houlden
Myriam Fornage
Fumihiko Matsuda
Hans J Grabe
M Arfan Ikram
Stéphanie Debette
Paul M Thompson
Sudha Seshadri
Hieab H H Adams

Publication Date



Cell Reports Medicine


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 investigation of clinical implications of the link between head size and cancer.


cancer, genetics, genome-wide association study, head circumference, head size, intracranial volume, meta-analysis



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