Common genetic variants influence human subcortical brain structures.
2 QIMR Berghofer Medical Research Institute
3 Department of Psychiatry
4 Department of Human Genetics
5 Institute of Psychiatry, Psychology & Neuroscience, King's College London
6 PRES Sorbonne Paris Cité
7 GHFC (UMR_3571 / U-Pasteur_1) - Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions
8 CNRS - UMR3571 - Gènes, Synapses et Cognition
9 DZNE - German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen
10 Greifswald University Hospital
11 UMCU - University Medical Center [Utrecht]
12 European Commission
13 The University of Edinburgh
14 LASU - Lagos State University
15 HWU - Heriot-Watt University [Edinburgh]
16 Unité d'expérimentation sur les Ruminants de Theix
17 RadboudUMC - Radboud University Medical Center [Nijmegen]
18 Donders Institute for Brain, Cognition and Behaviour
19 UiO - University of Oslo
20 Montreal Neurological Institute and Hospital
21 School of Technical Physics
22 Dept. of Mechanical Engineering
23 NIN - Netherlands Institute for Neuroscience
24 Haukeland University Hospital
25 PC2A - Physicochimie des Processus de Combustion et de l’Atmosphère - UMR 8522
26 Central Institute of Mental Health [Mannheim]
27 Language and Genetics Department [Nijmegen]
28 IMPRS - International Max Planck Research School for Language Sciences
29 Georgia Institute of Technology [Atlanta]
30 NIH - National Institutes of Health [Bethesda, MD, USA]
31 Yale University [New Haven]
32 Department of Psychiatry
33 Mental Health Sciences Unit
34 BNU - Beijing Normal University
35 Indiana University School of Medicine
36 Indiana Alzheimer Disease Center
37 Georg-August-University of Goettingen = Georg-August-Universität Göttingen
38 Scottish Fish Immunology Research Centre, School of Biological Sciences
39 UCLA - University of California [Los Angeles]
40 Medstar Research Institute
41 UNSW - University of New South Wales [Sydney]
42 Department of Genomics, Life and Brain Center
43 Institute of Human Genetics
44 Department of Biomedicine and the Centre for Integrative Sequencing
45 Department of Psychiatry
46 Respiratory Epidemiology and Public Health
47 CIBER-SAM - Centro de Investigación Biomédica en Red Salud Mental [Madrid]
48 IPCM - Institut Parisien de Chimie Moléculaire
49 Umeå University = Umeå Universitet
50 ARC - Aging Research Center [Karolinska Institutet]
51 Max Planck Institute of Psychiatry = Max-Planck-Institut für Psychiatrie
52 Neuro - UC San Diego - Department of Neurosciences [Univ California San Diego]
53 CogSci - UC San Diego - Department of Cognitive Sciences [Univ California San Diego]
54 SickKids - The Hospital for sick children [Toronto]
55 Queensland Institute of Medical Research
56 School of Psychology, University of Queensland, Brisbane 4072, Australia
57 Centre for Advanced Imaging, University of Queensland, Brisbane 4072, Australia
58 King‘s College London
59 Department of Genomics of Common Disease
60 Department of Psychology [Oslo]
61 Deutsche Bundesbank
62 Department of Neurology and Neurosurgery [Montreal]
63 Molecular and Cellular Therapeutics
64 MetaGenoPolis
65 Department of Psychiatric Research and Development, Diakonhjemmet Hospital, Oslo 0319, Norway
66 UCL Institute of Neurology and Epilepsy Society
67 Department of Medicine
68 Clinical And Experimental Epilepsy
69 Department of Psychiatry [New Haven]
70 Hartford Hospital
71 Trinity College Dublin
72 UCD - University College Dublin [Dublin]
73 Statistical Genetics Group
74 State Key Laboratory of Lead Compound Research
75 Reta Lila Weston Institute of Neurological Studies
76 Department of Genetics
77 EDC - Centre épigénétique et destin cellulaire
78 Dundee Technopole
79 Ninewells Hospital and Medical School, Biomedical Research Centre
80 Department of Genetics
81 Department of Psychiatry and National Ageing Research Institute
82 Department of Clinical Genetics
83 Department of Medical Parasitology and Mycology
84 Centre for Healthy Brain Ageing
85 Dementia Collaborative Research Centre
86 N.I. Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119333, Russia
87 Texas Biomedical Research Institute [San Antonio, TX]
88 INM-1 - Institute of Neuroscience and Medicine
89 Division of Medical Genetics
90 Department of Psychiatry
91 Neuropsychiatric Genetics Research Group
92 Department of Materials Science & Metallurgy
93 Bijvoet Center of Biomolecular Research [Utrecht]
94 School of Psychology, University of Queensland
95 Laboratory of Neurogenetics
96 UTHealth - The University of Texas Health Science Center at Houston
97 Department of Genomics
98 Department of Medical and Molecular Genetics
99 South Texas Veterans Health Care System, San Antonio, Texas 78229, USA
100 Biofunctional Imaging, Immunology Frontier Research Center, Osaka University, Osaka 565-0871, Japan
101 University of Melbourne
102 Public Health Genomics Unit
103 Department of Biomolecular Engineering
104 Rheinische Friedrich-Wilhelms-Universität Bonn
105 Estación Experimental de Pastos y Forrajes “Indio Hatuey”
106 Department of Psychiatry
107 Neuronal Plasticity / Mouse Behaviour
108 Interfaculty Institute for Genetics and Functional Genomics
109 Department of Psychiatry, Fujita Health University School of Medicine, Toyoake 470-1192, Japan
110 Department of Radiology
111 Department of Clinical Neurology [Oxford]
112 University of Maryland School of Medicine
113 University of Sussex
114 Institute of Cognitive Neuroscience
115 United Kingdom Met Office [Exeter]
116 Department of Psychiatry
117 Department of Civil and Structural Engineering
118 CUIMC - Columbia University Irving Medical Center
119 Lymphocyte Cell Biology Unit, Laboratory of Genetics
120 Centre for Advanced Imaging
121 Psychiatry and Psychotherapy
122 KG Jebsen Centre for Psychosis Research
123 Division of Mental Health and Addiction
124 Institute of Clinical Medicine [Oslo]
125 Division of Mental Health and Addiction
126 Charité - UniversitätsMedizin = Berlin University Medicine
127 Genetic Epidemiology Unit
128 Department of Statistics [Warwick]
129 Department of Psychiatry
130 Department of Medical and Molecular Genetics
131 University of Calgary
132 UC Irvine - University of California [Irvine]
133 Department of Genetic Epidemiology in Psychiatry
134 Department of Psychiatry
135 Space and Naval Warfare Systems Center
136 Klinik für Psychiatrie
137 Department of Psychiatry, Division of Medical Psychology
138 Genetics of Mental Illness and Brain Function
139 UMR DAP - Développement et amélioration des plantes
140 LONI - Laboratory of Neuro Imaging [Los Angeles]
141 Departamento de Física Aplicada
142 Georgia State University
143 Genentech, Inc.
144 Psychiatry and Leiden Institute for Brain and Cognition
145 LUMC - Leiden University Medical Center [Leiden]
146 Department of Psychiatry
147 Department of Neurobiology, Care Sciences and Society
148 University of Manchester [Manchester]
149 UTHSC - The University of Tennessee Health Science Center [Memphis]
150 iangsu Province Key Laboratory for Inflammation and Molecular Drug Target, Medical College of Nantong University, Nantong 226001, China
151 CUDOS - Centre for Ultrahigh Bandwidth Devices for Optical Systems
152 Department of Human Genetics
153 Cognitive Neuroscience Laboratory (CNL)
154 Donders Center for Cognitive Neuroimaging
155 Department of Psychiatry
156 The Mind Research Network
157 ECE Department - Department of Electrical and Computer Engineering [Albuquerque]
158 Division of Molecular and Cellular Therapeutics
159 SAMS - Scottish Association for Marine Science
160 Structural Biology Laboratory, Department of Chemistry, University of York
161 Neurology Division, Beaumont Hospital, Dublin 9, Ireland
162 Department of Neurology
163 Deparment of Medical Genetics
164 Human Genetics Branch
165 Athinoula A. Martinos Center for Biomedical Imaging
166 Department of Psychiatry, University of Iowa
167 Institute for Community Medicine, Department Epidemiology of Health Care and Community Health
168 Translational Centre for Regenerative Medicine (TRM); Department of Cell Therapy
169 Institute of Clinical Chemistry and Laboratory Medicine
170 Department of Health Science, Division of Health and Rehabilitation
171 Stanley Center for Psychiatric Research
172 Psychiatric and Neurodevelopmental Genetics Unit
173 849 Department of Human Genetics
174 Institute for Community Medicine
175 Institute for Energy Systems and Thermodynamics
176 Renyi Institute
177 Neuropsychiatric Institute, Prince of Wales Hospital, Randwick, NSW
178 Department of Child and Adolescent Psychiatry, Erasmus University Medical Centre, Rotterdam 3000 CB, The Netherlands
179 Department of Radiology, Erasmus University Medical Centre, Rotterdam 3015 CN, The Netherlands
180 VU - Vrije Universiteit Amsterdam [Amsterdam]
181 Cell Biology and Gene Expression Section
182 Dept of Psychology
183 Department of Psychiatry and Psychotherapy
184 LIG - Laboratoire d'Informatique de Grenoble
185 Molecular Research Center for Children’s Mental Development, United Graduate School of Child Development,
186 Centre for Allergy Research
187 Department of Medicine, Clinical Pharmacology Unit
188 MUL - Medical University of Łódź
189 Psychiatry Institute
190 Department of Health and Human Services
191 Institute of Gerontology and Geriatrics
192 CSIRO - Commonwealth Scientific and Industrial Research Organisation [Australia]
193 Australian Centre for Research into Injury in Sport and its Prevention
194 Department of Psychiatry
195 School of Psychology [Nottingham]
196 MNI - McConnell Brain Imaging Centre
197 SickKids - The Hospital for sick children
198 Department of Medical and Molecular Genetics
199 ECMWF - European Centre for Medium-Range Weather Forecasts
200 UEF - University of Eastern Finland = Itä-Suomen Yliopisto = Östra Finlands universitet
201 Centre for Population Health Sciences
202 LIBD - Lieber Institute for Brain Development [Baltimore]
203 JHU - Johns Hopkins University [Baltimore]
204 Institut Gilbert-Laustriat : Biomolécules, Biotechnologie, Innovation Thérapeutique
205 Medical University of Graz = Medizinische Universität Graz
206 AIT - Austrian Institute of Technology [Vienna]
207 Prévention et prise en charge des traumatismes [Bordeaux]
208 INSERM, Neuroepidemiology U708, Bordeaux, France
209 KIT - Karlsruhe Institute of Technology = Karlsruher Institut für Technologie
210 General Internal Medicine, Johns Hopkins School of Medicine
211 Erasmus MC - Erasmus University Medical Center [Rotterdam]
212 HMS - Harvard Medical School [Boston]
213 CSAIL - Computer Science and Artificial Intelligence Laboratory [Cambridge]
214 University of Washington [Seattle]
215 Department of Physics [Stockholm]
216 Department of Neurology
217 Netherlands Consortium for Healthy Ageing, Leiden, The Netherlands
218 BU - Boston University [Boston]
219 GIN - UMR 5296 - Groupe d'Imagerie Neurofonctionnelle
220 Faculty of Medicine
221 Icelandic Heart Association, Kopavogur, Iceland.
222 BUSM - Boston University School of Medicine
223 LIMATB - Laboratoire d'Ingénierie des Matériaux de Bretagne
224 School of Psychology, University of Queensland, Brisbane 4072, Australia
225 BROAD INSTITUTE - Broad Institute of MIT and Harvard
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Résumé
The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.