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Genetic variants for head size share genes and pathways with cancer.
Knol, Maria J; Poot, Raymond A; Evans, Tavia E; Satizabal, Claudia L; Mishra, Aniket; Sargurupremraj, Muralidharan; van der Auwera, Sandra; Duperron, Marie-Gabrielle; Jian, Xueqiu; Hostettler, Isabel C; van Dam-Nolen, Dianne H K; Lamballais, Sander; Pawlak, Mikolaj A; Lewis, Cora E; Carrion-Castillo, Amaia; van Erp, Theo G M; Reinbold, Céline S; Shin, Jean; Scholz, Markus; Håberg, Asta K; Kämpe, Anders; Li, Gloria H Y; Avinun, Reut; Atkins, Joshua R; Hsu, Fang-Chi; Amod, Alyssa R; Lam, Max; Tsuchida, Ami; Teunissen, Mariël W A; Aygün, Nil; Patel, Yash; Liang, Dan; Beiser, Alexa S; Beyer, Frauke; Bis, Joshua C; Bos, Daniel; Bryan, R Nick; Bülow, Robin; Caspers, Svenja; Catheline, Gwenaëlle; Cecil, Charlotte A M; Dalvie, Shareefa; Dartigues, Jean-François; DeCarli, Charles; Enlund-Cerullo, Maria; Ford, Judith M; Franke, Barbara; Freedman, Barry I; Friedrich, Nele; Green, Melissa J.
Affiliation
  • Knol MJ; Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Poot RA; Department of Cell Biology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Evans TE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands; Department of Radiology and Nuclear Medicine, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Satizabal CL; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, UT Health San Antonio, San Antonio, TX, USA; The Framingham Heart Study, Framingham, MA, USA; Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
  • Mishra A; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, Bordeaux, France.
  • Sargurupremraj M; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, UT Health San Antonio, San Antonio, TX, USA.
  • van der Auwera S; Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany; German Centre of Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Greifswald, Germany.
  • Duperron MG; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, Bordeaux, France.
  • Jian X; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Hostettler IC; Stroke Research Centre, University College London, Institute of Neurology, London, UK; Department of Neurosurgery, Klinikum rechts der Isar, University of Munich, Munich, Germany; Neurosurgical Department, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.
  • van Dam-Nolen DHK; Department of Radiology and Nuclear Medicine, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Lamballais S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Pawlak MA; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Lewis CE; Department of Epidemiology, School of Public Health, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA.
  • Carrion-Castillo A; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
  • van Erp TGM; Clinical Translational Neuroscience Laboratory, Department of Psychiatry and Human Behavior, University of California, Irvine, Irvine, CA, USA; Center for the Neurobiology of Learning and Memory, University of California, Irvine, Irvine, CA, USA.
  • Reinbold CS; Department of Biomedicine, University of Basel, Basel, Switzerland; Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland; Institute of Computational Life Sciences, Zurich University of Applied Sciences, Wädenswil, Switzerland.
  • Shin J; The Hospital for Sick Children, University of Toronto, Toronto, Canada; Departments of Physiology and Nutritional Sciences, University of Toronto, Toronto, Canada.
  • Scholz M; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany; LIFE Research Center for Civilization Disease, Leipzig, Germany.
  • Håberg AK; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway; Department of Radiology and Nuclear Medicine, St. Olavs University Hospital, Trondheim, Norway.
  • Kämpe A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Li GHY; Department of Pharmacology and Pharmacy, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Avinun R; Laboratory of NeuroGenetics, Department of Psychology & Neuroscience, Duke University, Durham, NC, USA.
  • Atkins JR; School of Biomedical Sciences and Pharmacy, The University of Newcastle, Callaghan, NSW, Australia; Centre for Brain and Mental Health Research, Hunter Medical Research Institute, Newcastle, NSW, Australia.
  • Hsu FC; Department of Biostatistics and Data Science, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
  • Amod AR; Department of Child and Adolescent Psychiatry, TU Dresden, Dresden, Germany.
  • Lam M; North Region, Institute of Mental Health, Singapore, Singapore; Population and Global Health, LKC Medicine, Nanyang Technological University, Singapore, Singapore.
  • Tsuchida A; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team VINTAGE, UMR 1219, Bordeaux, France; Groupe d'imagerie neurofonctionnelle, Institut des Maladies Neurodégénératives, UMR 5293, CNRS, CEA, Université de Bordeaux, Bordeaux, France.
  • Teunissen MWA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology, Maastricht University Medical Center+, Maastricht, the Netherlands.
  • Aygün N; Department of Genetics UNC Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Patel Y; Institute of Medical Sciences, University of Toronto, Toronto, ON, Canada.
  • Liang D; Department of Genetics UNC Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
  • Beiser AS; The Framingham Heart Study, Framingham, MA, USA; Department of Neurology, Boston University School of Medicine, Boston, MA, USA; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.
  • Beyer F; Department of Neurology, Max Planck Institute for Cognitive and Brain Sciences, Leipzig, Germany; Collaborative Research Center 1052 Obesity Mechanisms, Faculty of Medicine, University of Leipzig, Leipzig, Germany; Day Clinic for Cognitive Neurology, University Hospital Leipzig, Leipzig, Germany.
  • Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
  • Bos D; Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands; Department of Radiology and Nuclear Medicine, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Bryan RN; Department of Radiology, University of Pennsylvania, Philadelphia, PA, USA.
  • Bülow R; Institute of Diagnostic Radiology and Neuroradiology, University Medicine Greifswald, Greifswald, Germany.
  • Caspers S; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Institute for Anatomy I, Medical Faculty & University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Catheline G; University of Bordeaux, CNRS, INCIA, UMR 5287, team NeuroImagerie et Cognition Humaine, Bordeaux, France; EPHE-PSL University, Bordeaux, France.
  • Cecil CAM; Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, the Netherlands; Department of Child and Adolescent Psychiatry, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Dalvie S; Department of Child and Adolescent Psychiatry, TU Dresden, Dresden, Germany.
  • Dartigues JF; University of Bordeaux, Inserm, Bordeaux Population Health Research Center, team SEPIA, UMR 1219, Bordeaux, France.
  • DeCarli C; Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, CA, USA.
  • Enlund-Cerullo M; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Folkhälsan Research Center, Helsinki, Finland.
  • Ford JM; San Francisco Veterans Administration Medical Center, San Francisco, CA, USA; University of California, San Francisco, San Francisco, CA, USA.
  • Franke B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Psychiatry, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition, and Behaviour, Radboud University, Nijmegen, the Netherlands.
  • Freedman BI; Department of Internal Medicine, Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC, USA.
  • Friedrich N; Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, Greifswald, Germany.
  • Green MJ; School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; Neuroscience Research Australia, Sydney, NSW, Australia.
Cell Rep Med ; 5(5): 101529, 2024 May 21.
Article in En | MEDLINE | ID: mdl-38703765
ABSTRACT
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome-Wide Association Study / Head / Neoplasms Limits: Adult / Female / Humans / Male Language: En Journal: Cell Rep Med Year: 2024 Document type: Article Affiliation country: Países Bajos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome-Wide Association Study / Head / Neoplasms Limits: Adult / Female / Humans / Male Language: En Journal: Cell Rep Med Year: 2024 Document type: Article Affiliation country: Países Bajos