title: Genomic architecture of human neuroanatomical diversity.
abstract: Human brain anatomy is strikingly diverse and highly inheritable: genetic factors may explain up to 80% of its variability. Prior studies have tried to detect genetic variants with a large effect on neuroanatomical diversity, but those currently identified account for <5% of the variance. Here, based on our analyses of neuroimaging and whole-genome genotyping data from 1765 subjects, we show that up to 54% of this heritability is captured by large numbers of single-nucleotide polymorphisms of small-effect spread throughout the genome, especially within genes and close regulatory regions. The genetic bases of neuroanatomical diversity appear to be relatively independent of those of body size (height), but shared with those of verbal intelligence scores. The study of this genomic architecture should help us better understand brain evolution and disease.
authors.affiliation: 1] Human Genetics and Cognitive Functions, Neuroscience Department, Institut Pasteur, Paris, France [2] CNRS URA 2182 'Genes, synapses and cognition', Paris, France [3] Université Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France.
authors.forename: R
authors.initials: R
authors.lastname: Toro
authors.affiliation: 1] Henry H. Wheeler, Jr. Brain Imaging Center, University of California at Berkeley, Berkeley, CA, USA [2] Neurospin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Paris, France.
authors.forename: J-B
authors.initials: JB
authors.lastname: Poline
authors.affiliation: 1] Human Genetics and Cognitive Functions, Neuroscience Department, Institut Pasteur, Paris, France [2] CNRS URA 2182 'Genes, synapses and cognition', Paris, France [3] Université Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Huguet
authors.affiliation: 1] Social, Genetic and Developmental Psychiatry (SGDP) Centre, Institute of Psychiatry, King's College London, London, UK [2] MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, London, UK.
authors.forename: E
authors.initials: E
authors.lastname: Loth
authors.affiliation: Henry H. Wheeler, Jr. Brain Imaging Center, University of California at Berkeley, Berkeley, CA, USA.
authors.forename: V
authors.initials: V
authors.lastname: Frouin
authors.affiliation: Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Banaschewski
authors.affiliation: Social, Genetic and Developmental Psychiatry (SGDP) Centre, Institute of Psychiatry, King's College London, London, UK.
authors.forename: G J
authors.initials: GJ
authors.lastname: Barker
authors.affiliation: Discipline of Psychiatry, School of Medicine and Trinity College Institute of Neurosciences, Trinity College Dublin, Dublin, Ireland.
authors.forename: A
authors.initials: A
authors.lastname: Bokde
authors.affiliation: University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Büchel
authors.affiliation: 1] Social, Genetic and Developmental Psychiatry (SGDP) Centre, Institute of Psychiatry, King's College London, London, UK [2] MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, London, UK.
authors.forename: F M
authors.initials: FM
authors.lastname: Carvalho
authors.affiliation: 1] Social, Genetic and Developmental Psychiatry (SGDP) Centre, Institute of Psychiatry, King's College London, London, UK [2] Department of Psychiatry, Université de Montreal, CHU Ste Justine Hospital, Montreal, QC, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Conrod
authors.affiliation: Department of Addictive Behaviour and Addiction Medicine, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Fauth-Bühler
authors.affiliation: Department of Cognitive and Clinical Neuroscience, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Flor
authors.affiliation: Department of Psychiatry and Psychotherapy, Campus Charité Mitte, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Gallinat
authors.affiliation: 1] Discipline of Psychiatry, School of Medicine and Trinity College Institute of Neurosciences, Trinity College Dublin, Dublin, Ireland [2] Departments of Psychiatry and Psychology, University of Vermont, Burlington, VT, USA.
authors.forename: H
authors.initials: H
authors.lastname: Garavan
authors.affiliation: Departments of Psychiatry and Psychology, University of Vermont, Burlington, VT, USA.
authors.forename: P
authors.initials: P
authors.lastname: Gowland
authors.affiliation: Department of Psychiatry and Psychotherapy, Campus Charité Mitte, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Heinz
authors.affiliation: Physikalisch-Technische Bundesanstalt, Berlin, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Ittermann
authors.affiliation: School of Psychology, University of Nottingham, Nottingham, UK.
authors.forename: C
authors.initials: C
authors.lastname: Lawrence
authors.affiliation: 1] Institut National de la Santé et de la Recherche Medicale, INSERM CEA Unit 1000, 'Imaging & Psychiatry', University Paris Sud, Orsay, France [2] Department of Adolescent Psychopathology and Medicine, Assistance Publique Hôpitaux de Paris, Maison de Solenn, Université Paris Descartes, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Lemaître
authors.affiliation: Department of Addictive Behaviour and Addiction Medicine, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Mann
authors.affiliation: Department of Cognitive and Clinical Neuroscience, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Nees
authors.affiliation: 1] School of Psychology, University of Nottingham, Nottingham, UK [2] Psychology and Psychiatry Department, Rotman Research Institute, University of Toronto, Toronto, ON, Canada [3] Department of Psychiatry, Université de Montreal, CHU Ste Justine Hospital, Montreal, QC, Canada.
authors.forename: T
authors.initials: T
authors.lastname: Paus
authors.affiliation: The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
authors.forename: Z
authors.initials: Z
authors.lastname: Pausova
authors.affiliation: Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Rietschel
authors.affiliation: Department of Psychology and Behavioural and Clinical Neuroscience Institute, University of Cambridge, Cambridge, UK.
authors.forename: T
authors.initials: T
authors.lastname: Robbins
authors.affiliation: 1] Department of Psychiatry and Psychotherapy, Technische Universität Dresden, Dresden, Germany [2] Department of Psychology, Neuroimaging Center, Technische Universität Dresden, Dresden, Germany.
authors.forename: M N
authors.initials: MN
authors.lastname: Smolka
authors.affiliation: Department of Psychiatry and Psychotherapy, Campus Charité Mitte, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Ströhle
authors.affiliation: 1] Social, Genetic and Developmental Psychiatry (SGDP) Centre, Institute of Psychiatry, King's College London, London, UK [2] MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, London, UK [3] Fondamental Foundation, Créteil, France.
authors.forename: G
authors.initials: G
authors.lastname: Schumann
authors.affiliation: 1] Human Genetics and Cognitive Functions, Neuroscience Department, Institut Pasteur, Paris, France [2] CNRS URA 2182 'Genes, synapses and cognition', Paris, France [3] Université Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France [4] Fondamental Foundation, Créteil, France.
authors.forename: T
authors.initials: T
authors.lastname: Bourgeron
mesh_terms: D000293:Adolescent; D001921:Brain / Q000033:anatomy & histology*; D015331:Cohort Studies; D003198:Computer Simulation; D005260:Female; D016678:Genome; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008957:Models, Genetic; D009929:Organ Size; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide