Genetic variants for head size share genes and pathways with cancer

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; 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 C.M. 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; The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium

doi:10.1016/j.xcrm.2024.101529

Back

Genetic variants for head size share genes and pathways with cancer

Journal article

Peer reviewed

Genetic variants for head size share genes and pathways with cancer

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, …

Cell reports. Medicine, Vol.5(5), pp.101529-101529

2024-05-21

DOI: https://doi.org/10.1016/j.xcrm.2024.101529

PMID: 38703765

Appears in Miller School of Medicine - Latest Publications

Abstract

cancer

genetics

genome-wide association study

head circumference

head size

intracranial volume

meta-analysis

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.

Files and links (1)

url

https://doi.org/10.1016/j.xcrm.2024.101529View

Published (Version of record) Open

Metrics

1 Record Views

See more details

Details

Title: Genetic variants for head size share genes and pathways with cancer
Creators: Maria J. Knol - Erasmus MC
Raymond A. Poot - Erasmus MC
Tavia E. Evans - Erasmus MC
Claudia L. Satizabal - Boston University
Aniket Mishra - Bordeaux Population Health
Muralidharan Sargurupremraj - Institute for Neurodegenerative Disorders
Sandra van der Auwera - German Center for Neurodegenerative Diseases
Marie Gabrielle Duperron - Bordeaux Population Health
Xueqiu Jian - Brown Foundation
Isabel C. Hostettler - Neurosurgical Department, Cantonal Hospital St. Gallen, St. Gallen, Switzerland
Dianne H.K. van Dam-Nolen - Erasmus MC
Sander Lamballais - Erasmus MC
Mikolaj A. Pawlak - Radboud University Medical Center
Cora E. Lewis - University of Alabama at Birmingham
Amaia Carrion-Castillo - Max Planck Institute for Psycholinguistics
Theo G.M. van Erp - University of California, Irvine
Céline S. Reinbold - University Hospital of Basel
Jean Shin - University of Toronto
Markus Scholz - Leipzig University
Asta K. Håberg - St Olav's University Hospital
Anders Kämpe - Karolinska University Hospital
Gloria H.Y. Li - University of Hong Kong
Reut Avinun - Duke University
Joshua R. Atkins - Hunter Medical Research Institute
Fang Chi Hsu - Wake Forest University
Alyssa R. Amod - Technische Universität Dresden
Max Lam - Institute of Mental Health
Ami Tsuchida - Université de Bordeaux
Mariël W.A. Teunissen - Maastricht University
Nil Aygün - University of North Carolina at Chapel Hill
Yash Patel - University of Toronto
Dan Liang - University of North Carolina at Chapel Hill
Alexa S. Beiser - Boston University
Frauke Beyer - University Hospital Leipzig
Joshua C. Bis - University of Washington
Daniel Bos - Erasmus MC
R. Nick Bryan - University of Pennsylvania
Robin Bülow - Universitätsmedizin Greifswald
Svenja Caspers - Heinrich Heine University Düsseldorf
Gwenaëlle Catheline - École Pratique des Hautes Études
Charlotte A.M. Cecil - Erasmus MC
Shareefa Dalvie - Technische Universität Dresden
Jean François Dartigues - Bordeaux Population Health
Charles DeCarli - University of California, Davis
Maria Enlund-Cerullo - Helsinki University Hospital
Judith M. Ford - San Francisco VA Medical Center
Barbara Franke - Radboud University Medical Center
Barry I. Freedman - Wake Forest University
Nele Friedrich - Universitätsmedizin Greifswald
Melissa J. Green - Neuroscience Research Australia
Simon Haworth - University Of Bristol Dental Hospital
Catherine Helmer - Inserm
Per Hoffmann - University of Bonn
Georg Homuth - Universitätsmedizin Greifswald
M. Kamran Ikram - Erasmus MC
Clifford R. Jack - Mayo Clinic in Arizona
Neda Jahanshad - Imaging Center
Christiane Jockwitz - RWTH Aachen University
Yoichiro Kamatani - Kyoto University
Annchen R. Knodt - Duke University
Shuo Li - Boston University
Keane Lim - Institute of Mental Health
W. T. Longstreth - University of Washington
Fabio Macciardi - University of California, Irvine
Philippe Amouyel
Konstantinos Arfanakis
Benjamin S. Aribisala
Mark E. Bastin
Ganesh Chauhan
Christopher Chen - Duke University
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 C.M. Liewald
Lorna M. Lopez
Oscar Lopez
Michelle Luciano
Oliver Martinez
Wiro J. Niessen
Paul Nyquist - Imaging Center
Jerome I. Rotter
Tatjana Rundek
Ralph L. Sacco
Helena Schmidt - Medical University of Graz
Henning Tiemeier
Stella Trompet
Jeroen van der Grond
Henry Völzke - University College London
Joanna M. Wardlaw
Lisa Yanek
Jingyun Yang - Boston University
Ingrid Agartz
Saud Alhusaini
The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium
Publication Details: Cell reports. Medicine, Vol.5(5), pp.101529-101529
Grant note: 14575/2470 / Freistaat Sachsen (501100014913) FCS 2009–2012 / Fondation Plan Alzheimer (501100007494) French National Agency 014-93-015 / Research Institute for Diseases in the Elderly Kyoto University (http://data.elsevier.com/vocabulary/SciValFunders/501100005683) FCS 2009–2012 / Fondation Plan Alzheimer (http://data.elsevier.com/vocabulary/SciValFunders/501100007494) NS087541; R01-NS017950 / National Institute of Neurological Disorders and Stroke (http://data.elsevier.com/vocabulary/SciValFunders/100000065) Sophia Foundation (http://data.elsevier.com/vocabulary/SciValFunders/100022790) University of Alabama at Birmingham (http://data.elsevier.com/vocabulary/SciValFunders/100008333) National Health and Medical Research Council (501100000925)
Academic Unit: Leadership Department; Miller School of Medicine; UMMG Department of Neurology
Language: English
Resource Type: Journal article
PMID: 38703765
Record Identifier: 991032796066402976