Your browser doesn't support javascript.
loading
Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.
Boen, Rune; Kaufmann, Tobias; van der Meer, Dennis; Frei, Oleksandr; Agartz, Ingrid; Ames, David; Andersson, Micael; Armstrong, Nicola J; Artiges, Eric; Atkins, Joshua R; Bauer, Jochen; Benedetti, Francesco; Boomsma, Dorret I; Brodaty, Henry; Brosch, Katharina; Buckner, Randy L; Cairns, Murray J; Calhoun, Vince; Caspers, Svenja; Cichon, Sven; Corvin, Aiden P; Crespo-Facorro, Benedicto; Dannlowski, Udo; David, Friederike S; de Geus, Eco J C; de Zubicaray, Greig I; Desrivières, Sylvane; Doherty, Joanne L; Donohoe, Gary; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fisher, Simon E; Forstner, Andreas J; Fortaner-Uyà, Lidia; Frouin, Vincent; Fukunaga, Masaki; Ge, Tian; Glahn, David C; Goltermann, Janik; Grabe, Hans J; Green, Melissa J; Groenewold, Nynke A; Grotegerd, Dominik; Grøntvedt, Gøril Rolfseng; Hahn, Tim; Hashimoto, Ryota; Hehir-Kwa, Jayne Y; Henskens, Frans A; Holmes, Avram J.
Afiliação
  • Boen R; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Electronic address: boenrune@gmail
  • Kaufmann T; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Psychiatry and Psychotherapy, Tübingen Center for Mental Health, University of Tübingen, Ger
  • van der Meer D; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; School of Mental Health and Neuroscience, Faculty of Health, Medicine and Life Sciences, Maastricht Univer
  • Frei O; Norwegian Centre for Mental Disorders Research (NORMENT), Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Centre for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway.
  • Agartz I; Norwegian Centre for Mental Disorders Research, Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Clinical Research, Diakonhjemmet Hospital, Oslo, Norway; Centre for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet and Stockholm Health Car
  • Ames D; University of Melbourne Academic Unit for Psychiatry of Old Age, St George's Hospital, Kew, Victoria, Australia; National Ageing Research Institute, Parkville, Victoria, Australia.
  • Andersson M; Department of Integrative Medical Biology and Umeå Center for Functional Brain Imaging, Umeå University, Umeå, Sweden.
  • Armstrong NJ; Department of Mathematics and Statistics, Curtin University, Perth, Western Australia, Australia.
  • Artiges E; Institut National de la Santé et de la Recherche Médicale U1299, École Normale Supérieure Paris-Saclay, Université Paris Saclay, Gif-sur-Yvette, France; Établissement public de santé (EPS) Barthélemy Durand, Etampes, France.
  • Atkins JR; School of Biomedical Sciences and Pharmacy, College of Medicine, Health and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia; Precision Medicine Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia; Cancer Epidemiology Unit, Nuffield Dep
  • Bauer J; University Clinic for Radiology, University of Münster, Münster, Germany.
  • Benedetti F; Psychiatry and Clinical Psychobiology Unit, Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy; Division of Neuroscience, Psychiatry and Clinical Psychobiology Unit, Istituto di Ricovero e Cura a Carattere Scientifico
  • Boomsma DI; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • Brodaty H; Centre for Healthy Brain Ageing, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia.
  • Brosch K; Department of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
  • Buckner RL; Department of Psychology and Center for Brain Science, Harvard University, Cambridge, Massachusetts; Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts.
  • Cairns MJ; School of Biomedical Sciences and Pharmacy, College of Medicine, Health and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia; Precision Medicine Research Program, Hunter Medical Research Institute, Newcastle, New South Wales, Australia.
  • Calhoun V; Tri-institutional Center for Translational Research in Neuroimaging and Data Science, Georgia State University/Georgia Institute of Technology/Emory University, Atlanta, Georgia.
  • 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.
  • Cichon S; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Department of Biomedicine, University of Basel, Basel, Switzerland; University Hospital Basel, Institute of Medical Genetics and Pathology, Basel, Switzerland.
  • Corvin AP; Department of Psychiatry, Trinity College Dublin, Dublin, Ireland.
  • Crespo-Facorro B; Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/Centro superior de investigaciones científicas (CSIC), Sevilla, Spain; Centro de Investigación Biomédica en Red Salud Mental, Sevilla, Spain; Department of Psychiatry, University of Sevilla, Sevilla, Spain.
  • Dannlowski U; Institute for Translational Psychiatry, University of Münster, Münster, Germany.
  • David FS; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
  • de Geus EJC; Department of Biological Psychology, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
  • de Zubicaray GI; School of Psychology and Counselling, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Desrivières S; Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
  • Doherty JL; Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom; Cardiff University Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff, United Kingdom.
  • Donohoe G; School of Psychology and Center for Neuroimaging, Cognition and Genomics, University of Galway, Galway, Ireland.
  • Ehrlich S; Translational Developmental Neuroscience Section, Division of Psychological and Social Medicine and Developmental Neurosciences, Faculty of Medicine, Technische Universität Dresden, Dresden, Germany.
  • Eising E; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands.
  • Espeseth T; Department of Psychology, University of Oslo, Oslo, Norway; Department of Psychology, Oslo New University College, Oslo, Norway.
  • Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
  • Forstner AJ; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, Jülich, Germany; Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany.
  • Fortaner-Uyà L; Psychiatry and Clinical Psychobiology Unit, Division of Neuroscience, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute, Milan, Italy; Division of Neuroscience, Psychiatry and Clinical Psychobiology Unit, Istituto di Ricovero e Cura a Carattere Scientifico
  • Frouin V; Neurospin, Commissariat a l'Energie Atomique (CEA), Université Paris-Saclay, Gif-sur-Yvette, France.
  • Fukunaga M; Section of Brain Function Information, National Institute for Physiological Sciences, Okazaki, Japan.
  • Ge T; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
  • Glahn DC; Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts.
  • Goltermann J; Institute for Translational Psychiatry, University of Münster, Münster, Germany.
  • Grabe HJ; Department of Psychiatry and Psychotherapy, University Medicine Greifswald, Greifswald, Germany.
  • Green MJ; Discipline of Psychiatry and Mental Health, School of Clinical Medicine, University of New South Wales, Sydney, New South Wales, Australia; Neuroscience Research Australia, Sydney, New South Wales, Australia.
  • Groenewold NA; Department of Psychiatry and Mental Health, Neuroscience Institute, University of Cape Town, Cape Town, South Africa.
  • Grotegerd D; Institute for Translational Psychiatry, University of Münster, Münster, Germany.
  • Grøntvedt GR; Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology and Clinical Neurophysiology, University Hospital of Trondheim, Trondheim, Norway.
  • Hahn T; Institute for Translational Psychiatry, University of Münster, Münster, Germany.
  • Hashimoto R; Department of Pathology of Mental Diseases, National Institute of Mental Health, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
  • Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
  • Henskens FA; School of Medicine and Public Health, University of Newcastle, Newcastle, New South Wales, Australia; Priority Research Centre for Health Behaviour, University of Newcastle, Newcastle, New South Wales, Australia.
  • Holmes AJ; Department of Psychiatry, Rutgers University, New Brunswick, New Jersey; Brain Health Institute, Rutgers University, Piscataway, New Jersey.
Biol Psychiatry ; 95(2): 147-160, 2024 Jan 15.
Article em En | MEDLINE | ID: mdl-37661008
ABSTRACT

BACKGROUND:

Carriers of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants exhibit regional and global brain differences compared with noncarriers. However, interpreting regional differences is challenging if a global difference drives the regional brain differences. Intraindividual variability measures can be used to test for regional differences beyond global differences in brain structure.

METHODS:

Magnetic resonance imaging data were used to obtain regional brain values for 1q21.1 distal deletion (n = 30) and duplication (n = 27) and 15q11.2 BP1-BP2 deletion (n = 170) and duplication (n = 243) carriers and matched noncarriers (n = 2350). Regional intra-deviation scores, i.e., the standardized difference between an individual's regional difference and global difference, were used to test for regional differences that diverge from the global difference.

RESULTS:

For the 1q21.1 distal deletion carriers, cortical surface area for regions in the medial visual cortex, posterior cingulate, and temporal pole differed less and regions in the prefrontal and superior temporal cortex differed more than the global difference in cortical surface area. For the 15q11.2 BP1-BP2 deletion carriers, cortical thickness in regions in the medial visual cortex, auditory cortex, and temporal pole differed less and the prefrontal and somatosensory cortex differed more than the global difference in cortical thickness.

CONCLUSIONS:

We find evidence for regional effects beyond differences in global brain measures in 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants. The results provide new insight into brain profiling of the 1q21.1 distal and 15q11.2 BP1-BP2 copy number variants, with the potential to increase understanding of the mechanisms involved in altered neurodevelopment.
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deleção Cromossômica Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deleção Cromossômica Idioma: En Ano de publicação: 2024 Tipo de documento: Article