ArticleThe American journal of psychiatry2012
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
Article in The American journal of psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 papers, 6 of them syntheses that pooled it.
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Who cites it
131 citing papers in PubMed, 6 syntheses or guidelines pooled it, 302 citations in OpenAlex.
- Genome-wide association meta-analysis and rare copy number variant analysis of treatment-resistant depression.Molecular psychiatry · 2025Pooled it
- Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.HGG advances · 2024Pooled it
- Cortical Gyrification Morphology in Individuals with ASD and ADHD across the Lifespan: A Systematic Review and Meta-Analysis.Cerebral cortex (New York, N.Y. : 1991) · 2021Pooled it
- Brain imaging genetics in ADHD and beyond - Mapping pathways from gene to disorder at different levels of complexity.Neuroscience and biobehavioral reviews · 2017Pooled it
- Pooled it
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- Effects of NR3C1 and COMT Genes on Attention-Deficit/Hyperactivity Disorder and Accompanying Aggressiveness: A Cross-Sectional Study in a Clinical Sample.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026Article
- hiPSC-derived cortical neurons from ADHD individuals reveal dysregulated glutamatergic development.Molecular psychiatry · 2026Article
- Examining the independent and combined effects of autistic and ADHD traits on multisensory integration.Frontiers in human neuroscience · 2026Article
- Prevalence of Developmental, Psychiatric, and Neurologic Conditions in Older Siblings of Children with and without Autism Spectrum Disorder: Study to Explore Early Development.Journal of autism and developmental disorders · 2025Article
- Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate.Human molecular genetics · 2025Article
- Unraveling Attention-Deficit/Hyperactivity Disorder Etiology: Current Challenges and Future Directions in Treatment.NeuroSci · 2025Review
- Transcriptomic Dysregulation in Animal Models of Attention-Deficit Hyperactivity Disorder and Nicotine Dependence Suggests Shared Neural Mechanisms.Brain and behavior · 2025Article
- Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes.medRxiv : the preprint server for health sciences · 2025Article
- A Novel De NovoGenes · 2024Article
- Translational bioinformatics and data science for biomarker discovery in mental health: an analytical review.Briefings in bioinformatics · 2024Review
- Genetic architecture of ADHD and overlap with other psychiatric disorders and cognition-related phenotypes.Neuroscience and biobehavioral reviews · 2023Review
- Gene copy number variation and pediatric mental health/neurodevelopment in a general population.Human molecular genetics · 2023Article
- Rare copy number variants in males and females with childhood attention-deficit/hyperactivity disorder.Molecular psychiatry · 2023Article
- Antipsychotics in the Management of Disruptive Behavior Disorders in Children and Adolescents: An Update and Critical Review.Biomedicines · 2022Review
71 more citing papers are in PubMed but not listed here.
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Authors and funding
49 authors at 1 institution in 1 country.
Funding
Abstract
objectiveAttention deficit hyperactivity disorder (ADHD) is a common, highly heritable psychiatric disorder. Because of its multifactorial etiology, however, identifying the genes involved has been difficult. The authors followed up on recent findings suggesting that rare copy number variants (CNVs) may be important for ADHD etiology.
methodThe authors performed a genome-wide analysis of large, rare CNVs (<1% population frequency) in children with ADHD (N=896) and comparison subjects (N=2,455) from the IMAGE II Consortium.
resultsThe authors observed 1,562 individually rare CNVs >100 kb in size, which segregated into 912 independent loci. Overall, the rate of rare CNVs >100 kb was 1.15 times higher in ADHD case subjects relative to comparison subjects, with duplications spanning known genes showing a 1.2-fold enrichment. In accordance with a previous study, rare CNVs >500 kb showed the greatest enrichment (1.28-fold). CNVs identified in ADHD case subjects were significantly enriched for loci implicated in autism and in schizophrenia. Duplications spanning the CHRNA7 gene at chromosome 15q13.3 were associated with ADHD in single-locus analysis. This finding was consistently replicated in an additional 2,242 ADHD case subjects and 8,552 comparison subjects from four independent cohorts from the United Kingdom, the United States, and Canada. Presence of the duplication at 15q13.3 appeared to be associated with comorbid conduct disorder.
conclusionsThese findings support the enrichment of large, rare CNVs in ADHD and implicate duplications at 15q13.3 as a novel risk factor for ADHD. With a frequency of 0.6% in the populations investigated and a relatively large effect size (odds ratio=2.22, 95% confidence interval=1.5–3.6), this locus could be an important contributor to ADHD etiology.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.