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Transl Psychiatry. 2019 Oct 17;9(1):258. doi: 10.1038/s41398-019-0599-y.

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder.

Author information

deCODE genetics/Amgen, Reykjavík, Iceland.
Faculty of Medicine, University of Iceland, Reykjavík, Iceland.
Department of Child and Adolescent Psychiatry, National University Hospital, Reykjavik, Iceland.
Department of Clinical Science, University of Bergen, Bergen, Norway.
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
K.G. Jebsen Centre for Neuropsychiatric Disorders, Department of Biomedicine, University of Bergen, Bergen, Norway.
NORMENT, K.G. Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo and Division of Mental Health and Addiction, Oslo University Hospital, Oslo, Norway.
Department of Pharmacology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
The Centre for Child Development and Behaviour, Capital Area Primary Health Care, Reykjavik, Iceland.
Department of Medical Genetics, Oslo University Hospital, Kirkeveien 166, 424, Oslo, Norway.
Department of Mental Disorders, Norwegian Institute of Public Health, P. O. Box 4404 Nydalen, 0403, Oslo, Norway.
Department of Psychiatry, National University Hospital, Reykjavík, Iceland.
School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
deCODE genetics/Amgen, Reykjavík, Iceland.
Division of Psychiatry, Haukeland University Hospital, Bergen, Norway.
Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
deCODE genetics/Amgen, Reykjavík, Iceland.
Faculty of Medicine, University of Iceland, Reykjavík, Iceland.


Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders such as intellectual disability, autism spectrum disorders (ASD), schizophrenia and ADHD. The aim of this study is to determine to what extent ADHD shares high risk CNV alleles with schizophrenia and ASD. We compiled 19 neuropsychiatric CNVs and test 14, with sufficient power, for association with ADHD in Icelandic and Norwegian samples. Eight associate with ADHD; deletions at 2p16.3 (NRXN1), 15q11.2, 15q13.3 (BP4 & BP4.5-BP5) and 22q11.21, and duplications at 1q21.1 distal, 16p11.2 proximal, 16p13.11 and 22q11.21. Six of the CNVs have not been associated with ADHD before. As a group, the 19 CNVs associate with ADHD (OR = 2.43, P = 1.6 × 10-21), even when comorbid ASD and schizophrenia are excluded from the sample. These results highlight the pleiotropic effect of the neuropsychiatric CNVs and add evidence for ADHD, ASD and schizophrenia being related neurodevelopmental disorders rather than distinct entities.

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