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Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder
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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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Attention-deficit/hyperactivity disorder
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Self-citationAttention-deficit/hyperactive disorder updates
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“CNVs contribute to the genetic risk for several neuropsychiatric disorders with complex inheritance (74), including intellectual disability (75), autism spectrum disorder (76, 77), major depressive disorder (78), attention-deficit hyperactivity disorder (79), and Tourette’s syndrome (80).”
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“18,19 However, to date, CNVs have not yet to be applied as predictive feature vectors in labeling phenotypic status of the patients.”
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“Meanwhile, genetic studies show about 74 % of heritability in ADHD (Faraone and Larsson 2019), higher than most other neuropsychiatric disorders, and heritability is estimated to impact about 22 % of single nucleotide variants (SNPs) presentations (Gudmundsson et al. 2019).”
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“In ASDs, de novo CNVs may be particularly salient: females affected by ASDs in simplex families (with unaffected parents and sometimes siblings) have higher rates of de novo CNVs than their affected male counterparts [65].”
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“These include rare de novo copy number variants (12), such as those disrupting ASTN2 and TRIM33 (13).”
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“The CNV burden of ADHD cases is similar to that found in autism spectrum disorders (ASD) or schizophrenia (19, 20).”
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“For example, the calcium channel A1 gene is shared by schizophrenia, autism, bipolar disorder, MDD, and ADHD.(6) This indicates that the DSM separation of those disorders is artificial and based on specific symptoms without integrating what is regarded as comorbid conditions into a unified model.”
Li, D., Tsai, S., Chen, T., Liang, C., & Chen, M. (2022) · Social Psychiatry and Psychiatric Epidemiology · doi:10.1007/s00127-022-02334-7 · Cited by 10
“Genetic studies have shown that neurodevelopmental disorders and MMDs share biological etiologies, such as genomic copy number variants [31, 33].”
BackgroundPoquérusse, J., Pagnini, F., & Langer, E. J. (2020) · Advances in Neurodevelopmental Disorders · doi:10.1007/s41252-020-00180-9 · Cited by 13
Meiser, B., Guo, X. Y., Putt, S., Fullerton, J. M., Schofield, P. R., Mitchell, P. B., & Yanes, T. (2020) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32786 · Cited by 8
“Carriers of many neuropsychiatric copy number variants exhibit variable clinical presentations, and many are also observed in unaffected individuals, and thus this highlights the additional role of environment and genetic background on clinical outcome (Gudmundsson et al., 2019).”
BackgroundMattheisen, M., Pato, M. T., Pato, C. N., & Knowles, J. A. (2021) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/appi.focus.20210017 · Cited by 7
Blood miRNA levels associated with ADHD traits in children across six European birth cohorts
Dypås, L. B., Duale, N., Olsen, A.-K. H., Bustamante, M., Maître, L., Escaramís, G., Júlvez, J., Aguilar-Lacasaña, S., Andrušaitytė, S., Casas, M., et al. (2023) · BMC Psychiatry · doi:10.1186/s12888-023-05199-5 · Cited by 8
Maternal Schizophrenia and the Risk of a Childhood Chronic Condition
Vigod, S. N., Ray, J. G., Cohen, E., Wilton, A. S., Saunders, N. R., Barker, L. C., Bérard, A., Dennis, C., Holloway, A. C., Morrison, K. M., et al. (2022) · Schizophrenia Bulletin · doi:10.1093/schbul/sbac091 · Cited by 7
ADHD: Progressing From Genetic Discoveries to Biological Insights
Thapar, A. (2020) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2020.20070961 · Cited by 7
“For example, CNVs associated with ADHD overlap with those implicated in ASD and schizophrenia (9 – 11).”
Fraza, C., Sønderby, I. E., Bøen, R., Shi, Y., Beckmann, C. F., & Marquand, A. F. (2024) · Nature Mental Health · doi:10.1038/s44220-024-00322-1 · Cited by 10
“1 deletion and duplication show an increased risk for several neurodevelopmental disorders 3,4,39,41,42 .”
Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly
Yue, F., Yang, X., Liu, N., Liu, R., & Zhang, H. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1349171 · Cited by 6
Montalbano, S., Krebs, M. D., Rosengren, A., Vaez, M., Hellberg, K.-L. G., Mortensen, P. B., Børglum, A. D., Geschwind, D. H., iPSYCH Investigators, Hougaard, D. M., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00450-8 · Cited by 6
Self-citationRare copy number variation in posttraumatic stress disorder
Maihofer, A. X., Engchuan, W., Huguet, G., Klein, M., MacDonald, J. R., Shanta, O., Thiruvahindrapuram, B., Jean‐Louis, M., Saci, Z., Jacquemont, S., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01776-4 · Cited by 6
“CNV associations have been identified for attention-deficit/hyperactivity disorder (ADHD) [7], autism spectrum disorder (ASD) [8], depression [9, 10], obsessive-compulsive disorder [11], and schizophrenia [12].”
InfluentialGenetics of Attention-Deficit Hyperactivity Disorder
Langley, K., Martin, J., & Thapar, A. (2022) · Current topics in behavioral neurosciences · doi:10.1007/7854_2022_338 · Cited by 6
“Recent investigations of CNVs associated with ADHD show that these CNVs also contribute to other neurodevelopmental and psychiatric disorders including ASD and schizophrenia (Williams et al. 2010; Lionel et al. 2011; Gudmundsson et al. 2019).”
BackgroundDubois, A. E. E., Audet-Duchesne, E., Knoth, I. S., Martin, C.-O., Jizi, K., Tamer, P., Younis, N., Jacquemont, S., Dumas, G., & Lippé, S. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03324-4 · Cited by 5
Ferber, S. G., Shoval, G., Weller, A., & Zalsman, G. (2023) · World Journal of Psychiatry · doi:10.5498/wjp.v13.i7.402 · Cited by 5
Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVsPreprint
Vaez, M., Montalbano, S., Sánchez, X. C., Hellberg, K.-L. G., Dehkordi, S. R., Krebs, M. D., Meijsen, J. J., Shorter, J. R., Byberg-Grauholm, J., Mortensen, P. B., et al. (2023) · medRxiv · doi:10.1101/2023.09.04.23294975 · Cited by 5
“, ID/DD/CM); (5) healthy volunteer bias and use of screened controls has led to an overestimation of rCNV-associated risk of psychiatric disorders and an underestimation of rCNV prevalence in the general population (especially deletions).”
Self-citationFraza, C., Sønderby, I. E., Bøen, R., Shi, Y., Beckmann, C. F., & Marquand, A. F. (2023) · medRxiv · doi:10.1101/2023.11.29.23298954 · Cited by 5
“1 deletion and duplication show an increased risk for several neurodevelopmental disorders 3,4,42–44 .”
BackgroundIdentification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders
Azidane, S., Gallego, X., Durham, L., Cáceres, M., Güney, E., & Pérez‐Cano, L. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100316 · Cited by 5
Copy Number Variants: Deletion and Duplication Syndromes
Harner, M. K., Bishop, D. V., Pollak, R. M., Purcell, R. H., & Mullé, J. G. (2025) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-121222-120601 · Cited by 4
Chang, X., Qu, H., Liu, Y., Glessner, J., & Hakonarson, H. H. (2023) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.10.011 · Cited by 5
Chawner, S. J. R. A., Mihaljevic, M. M., Morrison, S., Eser, H. Y., Maillard, A. M., Nowakowska, B., van den Bree, M. B. M., & Swillen, A. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104093 · Cited by 4
“An increasing number of recent studies indicate that NDDs share genetic mechanisms, and suggest that NDD-CNVs have a pleiotropic effect on clinical phenotypes and potentially impact convergent underlying brain pathways (de la Torre-Ubieta et al., 2016; Gudmundsson et al., 2019).”
BackgroundDiCriscio, A. S., Wain, K., Smith, J. D., Beiler, D. L., Walsh, L., Holdren, K., & Troiani, V. (2022) · Brain and Behavior · doi:10.1002/brb3.2813 · Cited by 4
Brownstein, C. A., Douard, E. A., Haynes, R. L., Koh, H. Y., Haghighi, A., Keywan, C., Martin, B. E., Alexandrescu, S., Haas, E. A., Vargas, S. O., et al. (2022) · Advanced Genetics · doi:10.1002/ggn2.202200012 · Cited by 4
Vaez, M., Montalbano, S., Waples, R. K., Krebs, M. D., Hellberg, K.-L. G., Gådin, J. R., Bybjerg‐Grauholm, J., Mortensen, P. B., Børglum, A. D., Nordentoft, M., et al. (2024) · medRxiv · doi:10.1101/2024.09.23.24314234 · Cited by 4
Self-citationGenomics of Attention Deficit Hyperactivity Disorder
Haavik, J. (2025) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2025.01.011 · Cited by 4
Self-citationJönsson, L., Martin, J., Lichtenstein, P., Magnusson, P. K. E., Lundström, S., Westberg, L., & Tammimies, K. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2191 · Cited by 3
“There are several CNVs with a strong association with neurodevelopmental disorders such as autism spectrum disorders (ASD) and/or schizophrenia (Gudmundsson et al., 2019; Malhotra & Sebat, 2012; Rees et al., 2016; Stefansson et al., 2014).”
BackgroundSelf-citationCombining multivariate genomic approaches to elucidate the comorbidity between ASD and ADHDPreprint
Peyre, H., Schoeler, T., Liu, C.-Y., Williams, C. M., Hoertel, N., Havdahl, A., & Pingault, J. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.04.22.054825 · Cited by 3
Kopál, J., Huguet, G., Marotta, J., Aggarwal, S., Osayande, N., Kumar, K., Saci, Z., Jean‐Louis, M., Chai, X. J., Ge, T., et al. (2025) · Nature Biomedical Engineering · doi:10.1038/s41551-025-01454-0 · Cited by 3
“Notably, CNVs have been associated with neurodevelopmental disorders (for example, autism spectrum disorder 7 or attention-deficit-hyperactivity-disorder 8 ) and psychological/ psychiatric disorders (for example, schizophrenia 9,10 , bipolar disorder 11 or major depressive disorder 12 ).”
Self-citationPleiotropy of Copy Number Variation in Human Genome
Кашеварова, А. А., Drozdov, G. V., Fedotov, D. A., & Лебедев, И. Н. (2022) · Russian Journal of Genetics · doi:10.1134/s1022795422100040 · Cited by 2
Role of Copy Number Variations in ADHD
Krgović, D. (2020) · IntechOpen eBooks · doi:10.5772/intechopen.94383 · Cited by 2
A Burden of Rare Copy Number Variants in Obsessive-Compulsive DisorderPreprint
Halvorsen, M., de Schipper, E. J., Boberg, J., Strom, N. I., Hagen, K., Lindblad‐Toh, K., Karlsson, E. K., Pedersen, N. L., Bulik, C. M., Fundín, B. T., et al. (2024) · Research Square · doi:10.21203/rs.3.rs-3749504/v1 · Cited by 2
Self-citationBattaglia, R. A., Bolshakova, S., Mazureac, I., Liyanage, D., Pettinari, N. L., Johnson, A., Crouse, E., Habib, S., Flessas, I., Nadig, A., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.11.08.687374 · Cited by 3
Mirabella, F., Finocchiaro, V., Figura, M. G., Galesi, O., Elia, M., Buono, S., Barone, R. M. E., & Rizzo, R. (2025) · Genes · doi:10.3390/genes16091020 · Cited by 1
“In line with this, several studies have reported an increased prevalence of large, rare CNVs in neurodevelopmental disorders, such as ASD [24], TS [23], and ADHD [22,36], highlighting their pathogenetic significance.”
Ram, T. R., Mu, C., MacEachern, S. J., & Shearer, J. (2026) · Antioxidants · doi:10.3390/antiox15060764 · Cited by 2
“Some reports describe altered mtDNA copy number, an increased prevalence of mtDNA mutations, and changes in nuclear genes that regulate mitochondrial dynamics [105,106].”
Ferber, S. G., Weller, A., Hayes, A. M., Vannorsdall, T. D., Ajlouni, Y., Qudah, M., Zalsman, G., Shoval, G., Jannini, T. B., Fiedler, R., et al. (2023) · World Journal of Psychiatry · doi:10.5498/wjp.v13.i10.803 · Cited by 1
A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia
Guo, X., Guo, J., Liu, X., & Hu, T. (2025) · Frontiers in Genetics · doi:10.3389/fgene.2025.1612654 · Cited by 1
Wootton, O., Wade, E. E., Malawsky, D. S., Koko, M., Huang, W., Huang, Q. Q., Warrier, V., Hurles, M. E., & Martin, H. C. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03851-6 · Cited by 2
Snihirova, Y., Breddels, E. M., Frei, O., Sønderby, I. E., Andreassen, O. A., van Amelsvoort, T., Linden, D. E. J., & van der Meer, D. (2024) · medRxiv · doi:10.1101/2024.09.18.24313729 · Cited by 1
“Seven phenotypes (PTSD, MDD, ADHD, cannabis use disorder, lung cancer, chronic kidney disease, and coronary artery disease) did not yield significant results with any of the regions.”
BackgroundSelf-citationMapping cerebellar morphology in 15q11.2 CNV carriers using normative modeling
Kim, M., Leonardsen, E. H., Rutherford, S. E., Selbæk, G., Persson, K., Steen, N. E., Smeland, O. B., Richard, G., Alnæs, D., Bøen, R., et al. (2026) · Molecular Psychiatry · doi:10.1101/2025.05.28.25328353 · Cited by 1
Self-citation
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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