Rare genetic variants confer a high risk of ADHD and implicate neuronal biology
Open accessAbstract
Abstract Attention deficit hyperactivity disorder (ADHD) is a childhood-onset neurodevelopmental disorder with a large genetic component 1 . It affects around 5% of children and 2.5% of adults 2 , and is associated with several severe outcomes 3–11 . Common genetic variants associated with the disorder have been identified 12,13 , but the role of rare variants in ADHD is mostly unknown. Here, by analysing rare coding variants in exome-sequencing data from 8,895 individuals with ADHD and 53,780 control individuals, we identify three genes ( MAP1A , ANO8 and ANK2 ; P < 3.07 × 10 −6 ; odds ratios 5.55–15.13) that are implicated in ADHD. The protein–protein interaction networks of these three genes were enriched for rare-variant risk genes of other neurodevelopmental disorders, and for genes involved in cytoskeleton organization, synapse function and RNA processing. Top associated rare-variant risk genes showed increased expression across pre- and postnatal brain developmental stages and in several neuronal cell types, including GABAergic (γ-aminobutyric-acid-producing) and dopaminergic neurons. Deleterious variants were associated with lower socioeconomic status and lower levels of education in individuals with ADHD, and a decrease of 2.25 intelligence quotient (IQ) points per rare deleterious variant in a sample of adults with ADHD ( n = 962). Individuals with ADHD and intellectual disability showed an increased load of rare variants overall, whereas other psychiatric comorbidities had an increased load only for specific gene sets associated with those comorbidities. This suggests that psychiatric comorbidity in ADHD is driven mainly by rare variants in specific genes, rather than by a general increased load across constrained genes.
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Pathogenic variants of MAP1A are often associated with widespread neurodevelopmental disorders and autism-related behavioral phenotypes.
“Pathogenic variants of MAP1A are often associated with widespread neurodevelopmental disorders and autism-related behavioral phenotypes (Demontis et al., 2026).”
From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Demontis et al., 2026
The Discussion (page not supplied) says MAP1A has not been associated with ASD or other neurodevelopmental conditions in other studies; this study identifies it as a rare-variant risk gene for ADHD. The Discussion attributes autism, intellectual disability, and extensive brain-wide white-matter deficits to variants in the sister gene MAP1B, not MAP1A. (LLM, conf=0.88)
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Zetterström, T., Quansah, E., & Grootveld, M. C. (2022) · Current topics in behavioral neurosciences · doi:10.1007/7854_2022_333 · Cited by 11 · see citing works
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- Authors
- Demontis, D., Duan, J., Hsu, Y.-H. H., Pintacuda, G., Grove, J., Nielsen, T. T., Thirstrup, J., Martorana, M., Botts, T., Satterstrom, F. K., Bybjerg-Grauholm, J., Tsai, J. H. Y., Glerup, S., Hoogman, M., Buitelaar, J., Klein, M., Ziegler, G. C., Jacob, C., Grimm, O., Bayas, M., Kobayashi, N. F., Kittel-Schneider, S., Lesch, K.-P., Franke, B., Reif, A., Agerbo, E., Werge, T., Nordentoft, M., Mors, O., Mortensen, P. B., Lage, K., Daly, M. J., Neale, B. M., & Børglum, A. D.
- Affiliations
- Broad Institute (US)
- Aarhus University (DK)
- Radboud University Nijmegen (NL)
- Universitätsklinikum Würzburg (DE)
- Goethe University Frankfurt (DE)
- Maastricht University (NL)
- Sankt Hans Hospital (DK)
- Copenhagen University Hospital (DK)
- Aarhus University Hospital (DK)
- Corresponding author
- Demontis, Ditte
- Børglum, Anders D.
- ORCID
- Demontis, Ditte
- Duan, Jinjie
- Hsu, Yu-Han H.
- Pintacuda, Greta
- Grove, Jakob
- Nielsen, Trine Tollerup
- Thirstrup, Janne
- Botts, Travis
- Satterstrom, F. Kyle
- Bybjerg-Grauholm, Jonas
- Glerup, Simon
- Hoogman, Martine
- Buitelaar, Jan
- Klein, Marieke
- Ziegler, Georg C.
- Jacob, Christian
- Lesch, Klaus-Peter
- Franke, Barbara
- Reif, Andreas
- Agerbo, Esben
- Werge, Thomas
- Nordentoft, Merete
- Mortensen, Preben Bo
- Lage, Kasper
- Daly, Mark J.
- Neale, Benjamin M.
- Børglum, Anders D.
- Venue
- Nature
- Published
- 2025-11-12
- Volume
- 649
- Issue
- 8098
- Pages
- 909-917
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC12823435
- OpenAlex
- W4416202704
- Cited by
- 17
- References
- 76
- Citations by year
- 2026: 16 · 2025: 1
- FWCI
- 11.44
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Nature (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion, cc-by)
- Työväentutkimus Vuosikirja (submittedVersion)
- Fraunhofer-Publica (Fraunhofer-Gesellschaft) (submittedVersion, cc-by)
- Scopus (Elsevier) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Aarhus Universitet
- Broad Institute
- Simons Foundation Autism Research Initiative (735604)
- European Commission (2014‐2020, 965381, Eat2beNICE, 101057385, HORIZON2020, 953327, H2020, 847879, 728018, H2020/2014-2020, 101086453, SFB TRR 58)
- Deutsche Forschungsgemeinschaft (SFB 581, TRR‐58, KFO125, 45219212, Eat2beNICE, 91619115, 728018, SFB TRR 58)
- ZonMw
- Bundesministerium für Bildung und Forschung (01EW1902, 91619115, BMBF 01GV0605, 01GV0605, H2020/2014-2020)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (45219212, 728018, 09150172210069, 09150162010073, 91619115)
- Lundbeckfonden (R344-2020-1060, R155-2014-1724, R102‐A9118, R248‐2017‐2003, R350-2020-963)
- Novo Nordisk (NNF21SA0072102)
- European College of Neuropsychopharmacology (847879)
- Novo Nordisk Fonden (NNF21SA0072102, NNF20OC0065561)
- H. Lundbeck A/S (R102-A9118, R155-2014-1724, R248-2017-2003)
- National Institutes of Health (H2020, HG003067)
- Horizon 2020 Framework Programme (H2020/2014–2020, 101057385, 101086453, Eat2beNICE, 728018, 847879, 965381, 953327, 01EW1902)
- Stanley Center for Psychiatric Research, Broad Institute
- HORIZON EUROPE Framework Programme (728018, 965381, 101057385, 953327, 847879, 101086453)
- National Institute of Mental Health (U01MH121499, R01MH124851)
- National Human Genome Research Institute (U54HG003067, HG003067)
- National Institute of Neurological Disorders and Stroke (R01NS131433)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- attention deficit hyperactivity disorder, rare variants, MAP1A, ANK2, neurodevelopmental disorders, protein-protein interaction network, cytoskeletal organization, synaptic function, RNA processing, GABAergic neurons, dopaminergic neurons, brain development, socioeconomic status, educational attainment, intelligence quotient, intellectual disability, psychiatric comorbidity
- MeSH terms
- Exome Sequencing, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Child, Female, Humans, Intelligence, Male, Microtubule-Associated Proteins, Neurons, Risk Factors, Genetic Variation, Genetic Predisposition to Disease, Dopaminergic Neurons, Protein Interaction Maps
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