CNVs conferring risk of autism or schizophrenia affect cognition in controls
| Autor: | Sunna Arnarsdottir, Andreas Meyer-Lindenberg, Johan H. Thygesen, Gyda Bjornsdottir, Heike Tost, Heimir Snorrason, Tine B. Stensbøl, Katrin Morgen, Larus J. Gudmundsson, Michael Didriksen, Gudrun A. Jonsdottir, Orla Doyle, G. Bragi Walters, Evald Saemundsen, Stefan Hreidarsson, Stacy Steinberg, Adam J. Schwarz, Birna Jonsdottir, Solveig Davidsdottir, Isafold Helgadottir, Berglind Stefansdottir, Oliver Grimm, Kari Stefansson, Magnús Haraldsson, Brynja B. Magnusdottir, Shitij Kapur, Michael Brammer, Jonas G. Halldorsson, Engilbert Sigurdsson, Gudbjorn F. Jonsson, Solveig Kristjansdottir, Hreinn Stefansson |
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| Přispěvatelé: | deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavík, Iceland, Central Institute of Mental Health, University of Heidelberg Medical Faculty Mannheim, 68159 Mannheim, Germany, Landspitali, Department of Psychiatry, National University Hospital, IS-101 Reykjavík, Iceland, Central Institute of Mental Health, University of Heidelberg Medical Faculty Mannheim, 68159 Mannheim, Germany, Institute of Psychiatry, King's College, 16 De Crespigny Park, London SE5 8AF, UK, University of Iceland, Faculty of Medicine, University of Iceland, IS-101 Reykjavík, Iceland, Röntgen Domus, Egilsgötu 3, IS-101 Reykjavík, Iceland, Mental Health Centre Sct. Hans, Copenhagen University Hospital, Research Institute of Biological Psychiatry, Boserupvej 2, DK-4000 Roskilde, Denmark, Tailored Therapeutics, Lilly Research Laboratories, Eli Lilly and Company, Lilly Corporate Center DC 1940, Indianapolis, Indiana 46285, USA, H. Lundbeck A/S, Ottiliavej 9, DK-2500 Valby, Denmark, The State Diagnostic and Counselling Centre, Digranesvegur 5, IS-200 Kópavogur, Iceland |
| Rok vydání: | 2013 |
| Předmět: |
Male
Iceland Learning Disorders/genetics Genome-wide association study Neuropsychological Tests Autistic Disorder/genetics Dyslexia Cognition Chromosomes Human Brain/anatomy & histology Genetics education.field_of_study Chromosomes Human Pair 15/genetics Multidisciplinary Einhverfa Learning Disabilities Brain Middle Aged Magnetic Resonance Imaging Phenotype Dyslexia/genetics Schizophrenia Brain/abnormalities Dyscalculia Female Chromosome Deletion DNA Copy Number Variations/genetics Adult Psychosis Heterozygote Adolescent DNA Copy Number Variations Population Young Adult Geðklofi mental disorders medicine Brain/metabolism Humans Genetic Predisposition to Disease Autistic Disorder education Cognition/physiology Aged Chromosomes Human Pair 15 business.industry Chromosomes Human/genetics Arfgengi medicine.disease Fertility Schizophrenia/genetics Case-Control Studies Fertility/genetics Autism business |
| Zdroj: | Nature. 505(7483) |
| ISSN: | 1476-4687 |
| Popis: | To access publisher's full text version of this article click on the hyperlink at the bottom of the page In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors contributing to the pathogenesis of the disease. These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike. They are not fully penetrant and offer an opportunity to study their effects separate from that of manifest disease. Here we show in an Icelandic sample that a few of the CNVs clearly alter fecundity (measured as the number of children by age 45). Furthermore, we use various tests of cognitive function to demonstrate that control subjects carrying the CNVs perform at a level that is between that of schizophrenia patients and population controls. The CNVs do not all affect the same cognitive domains, hence the cognitive deficits that drive or accompany the pathogenesis vary from one CNV to another. Controls carrying the chromosome 15q11.2 deletion between breakpoints 1 and 2 (15q11.2(BP1-BP2) deletion) have a history of dyslexia and dyscalculia, even after adjusting for IQ in the analysis, and the CNV only confers modest effects on other cognitive traits. The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia. info:eu-repo/grantAgreement/EC/FP/286213/EU//OpenAIREplus info:eu-repo/grantAgreement/EC/FP7/286213 |
| Databáze: | OpenAIRE |
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