Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder
Open accessAbstract
While childhood attention-deficit/hyperactivity disorder (ADHD) is more prevalent in males than females, genetic contributors to this effect have not been established. Here, we explore sex differences in the contribution of common and/or rare genetic variants to ADHD. Participants were from the Adolescent Brain and Cognitive Development study (N = 1253 youth meeting DSM-5 criteria for ADHD [mean age = 11.46 years [SD = 0.87]; 31% female] and 5577 unaffected individuals [mean age = 11.42 years [SD = 0.89]; 50% female], overall 66% White, non-Hispanic (WNH), 19% Black/African American, and 15% other races. Logistic regression tested for interactions between sex (defined genotypically) and both rare copy number variants (CNV) and polygenic (common variant) risk in association with ADHD. There was a significant interaction between sex and the presence of a CNV deletion larger than 200 kb, both in the entire cohort (β = -0.74, CI = [-1.27 to -0.20], FDR-corrected p = 0.048) and, at nominal significance levels in the WNH ancestry subcohort (β = -0.86, CI = [-1.51 to -0.20], p = 0.010). Additionally, the number of deleted genes interacted with sex in association with ADHD (whole cohort. β = -0.13, CI = [-0.23 to -0.029], FDR-corrected p = 0.048; WNH. β = -0.17, CI = [-0.29 to -0.050], FDR-corrected p = 0.044) as did the total length of CNV deletions (whole cohort. β = -0.12, CI = [-0.19 to -0.044], FDR-corrected p = 0.028; WNH. β = -0.17, CI = [-0.28 to -0.061], FDR-corrected p = 0.034). This sex effect was driven by increased odds of childhood ADHD for females but not males in the presence of CNV deletions. No similar sex effect was found for CNV duplications or polygenic risk scores. The association between CNV deletions and ADHD was partially mediated by measures of cognitive flexibility. In summary, CNV deletions were associated with increased odds for childhood ADHD in females, but not males.
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Neurochemical and genetic studies suggest men may carry a greater burden of rare structural variants, whereas women may require a higher polygenic threshold to manifest ADHD-supporting a proposed female protective effect.
“men may carry a greater burden of rare structural variants, whereas women may require a higher polygenic threshold to manifest ADHD [136]—supporting a proposed female protective effect”
From ADHD in Adulthood: Clinical Presentation, Comorbidities, and Treatment Perspectives (2025) · cites this paper as [136]
The Discussion reports increased rare CNV deletions in females with ADHD, not males. It also reports no sex difference in polygenic risk, so the proposed higher polygenic threshold for females is not supported; the Introduction describes a broader female protective-effect theory based on genetic liability, not that specific finding. (LLM, conf=0.90)
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“Neurochemical and genetic studies further suggest heterogeneity: men may carry a greater burden of rare structural variants, whereas women may require a higher polygenic threshold to manifest ADHD [136]—supporting a proposed female protective effect.”
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Self-citationMitochondrial dynamics in neurodevelopment and neurodevelopmental disorders
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Sha, Z., Sun, K. Y., Jung, B., Barzilay, R., Moore, T. M., Almasy, L. A., Forsyth, J. K., Prem, S., Gandal, M. J., Seidlitz, J., et al. (2024) · medRxiv · doi:10.1101/2024.05.14.24307376 · Cited by 2 · see citing works
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Katzourou, I. K., van den Bree, M. B. M., George, K., Owen, M. J., Walters, J. T., Holmans, P., Lynch, J., Katzourou, I. K., Underwood, J. F. J., van Heel, D. A., et al. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.02.021 · Cited by 3 · see citing works
Schachar, R. J., Crosbie, J., Arnold, P. D., & Burton, C. L. (2026) · The Canadian Journal of Psychiatry · doi:10.1177/07067437261457230
- Authors
- Jung, B., Ahn, K., Justice, C., Norman, L., Price, J., Sudre, G., & Shaw, P.
- Affiliations
- National Institutes of Health (US)
- Corresponding author
- Shaw, Philip
- Venue
- Molecular Psychiatry
- Published
- 2022-12-14
- Volume
- 28
- Issue
- 3
- Pages
- 1240-1247
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC10010944
- OpenAlex
- W4311358735
- Cited by
- 10
- References
- 71
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 2 · 2023: 2
- FWCI
- 1.14
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (ZIAHG200378)
- U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (ZIAHG200378)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Attention Deficit Hyperactivity Disorder
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- attention deficit hyperactivity disorder, copy number variation, sex differences, rare variants, polygenic risk, childhood ADHD, Adolescent Brain Cognitive Development Study
- MeSH terms
- Adolescent, Attention Deficit Disorder with Hyperactivity, Brain, Child, Female, Humans, Male, Genetic Predisposition to Disease, Racial Groups, DNA Copy Number Variations
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