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Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder
Open accessAbstract
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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“Attention-deficit/hyperactivity disorder (ADHD) is also observed in 16p11.2 CNV carriers [12, 15–17, 19, 23, 48], at rates as high as 29% (63/217) and 42% (48/114) in deletion and duplication carriers, respectively [34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [48]
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“Beyond this overall polygenic background, rare genomic alterations including copy number variations (CNVs) have also been associated with ADHD and partly overlap with loci implicated in other neurodevelopmental and psychiatric disorders [9].”
Metadata
- Authors
- Gudmundsson, O. O., Walters, G. B., Ingason, A., Johansson, S., Zayats, T., Athanasiu, L., Sonderby, I. E., Gustafsson, O., Nawaz, M. S., Jonsson, G. F., Jonsson, L., Knappskog, P.-M., Ingvarsdottir, E., Davidsdottir, K., Djurovic, S., Knudsen, G. P. S., Askeland, R. B., Haraldsdottir, G. S., Baldursson, G., Magnusson, P., Sigurdsson, E., Gudbjartsson, D. F., Stefansson, H., Andreassen, O. A., Haavik, J., Reichborn-Kjennerud, T., & Stefansson, K.
- Affiliations
- deCODE Genetics (Iceland) (IS)
- Haukeland University Hospital (NO)
- University of Bergen (NO)
- Oslo University Hospital (NO)
- Norwegian Institute of Public Health (NO)
- ORCID
- Venue
- Translational Psychiatry
- Published
- 2019-10-17
- Volume
- 9
- Issue
- 1
- Pages
- 258-258
- ISSN
- 2158-3188 (ISSN-L)
- PMC
- PMC6797719
- OpenAlex
- W2980448813
- Cited by
- 128
- References
- 51
- Citations by year
- 2026: 11 · 2025: 18 · 2024: 17 · 2023: 22 · 2022: 20 · 2021: 25 · 2020: 15
- FWCI
- 9.01
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Translational Psychiatry (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- NORA - Norwegian Open Research Archives (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- NORA - Norwegian Open Research Archives (submittedVersion, other-oa)
- Opin vísindi (Opin vísindi) (submittedVersion, cc-by)
- Hirsla (Landspítali University Hospital) (submittedVersion, other-oa)
- Funders
- European Federation of Pharmaceutical Industries and Associations (FP7/20072013)
- European Commission (EU-FP7, 602450, 2007–2013, 226971, FP7 2007-2013, 115300, 286213, FP7/2007, 248778, 115008)
- Norges Forskningsråd (226971, 229129, 223273, #213694, 248778, SKGJ-MED-008)
- Innovative Medicines Initiative (FP7/2007‐2013, 115008, 115300)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- attention deficit hyperactivity disorder, copy number variation, schizophrenia, autism spectrum disorder, pleiotropy, neurodevelopmental disorders, 15q11.2, 15q13.3, 16p11.2, genetic risk, comorbidities
- MeSH terms
- Autism Spectrum Disorder, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Female, Humans, Iceland, Male, Norway, Schizophrenia, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, DNA Copy Number Variations
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