ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2019
Copy number variation and neuropsychiatric problems in females and males in the general population.
Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Genetics of child aggression, a systematic review.Translational psychiatry · 2024Pooled it
- Association between Copy Number Variation and Response to Social Skills Training in Autism Spectrum Disorder.Scientific reports · 2019Trial
- Gene × sex interactions on cognition in the Philadelphia neurodevelopmental cohort.Biology of sex differences · 2026Article
- Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank.American journal of human genetics · 2026Article
- The role of rare copy number variants in early-onset depression.JCPP advances · 2026Article
- Childhood ADHD and autism spectrum disorder difficulties: exploring the impact of copy number variants on young adult outcomes.BJPsych open · 2026Article
- Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric Diseases.Molecular neurobiology · 2026Article
- Recurrent & non-recurrent copy number variants in Native Americans and a cosmopolitan sample in relation to Alcohol Use Disorder and other psychiatric diseases.Research square · 2025Article
- Chromosome X-wide common variant association study in autism spectrum disorder.American journal of human genetics · 2025Article
- Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder.medRxiv : the preprint server for health sciences · 2024Article
- Examining neurodevelopmental problems in 15q11.2 (BP1-BP2) copy number variation carriers at ages 9/12 and 18 in a Swedish twin sample.Molecular genetics & genomic medicine · 2023Article
- Gene copy number variation and pediatric mental health/neurodevelopment in a general population.Human molecular genetics · 2023Article
- Increased Prevalence of Rare Copy Number Variants in Treatment-Resistant Psychosis.Schizophrenia bulletin · 2023Article
- Review
- Rare copy number variation in posttraumatic stress disorder.Molecular psychiatry · 2022Article
- From genetics to systems biology of stress-related mental disorders.Neurobiology of stress · 2021Article
- Sex differences in anxiety and depression in children with attention deficit hyperactivity disorder: Investigating genetic liability and comorbidity.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2021Article
- Genetic architecture of Tourette syndrome: our current understanding.Psychological medicine · 2021Review
- Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression.PloS one · 2021Article
- Investigating gender-specific effects of familial risk for attention-deficit hyperactivity disorder and other neurodevelopmental disorders in the Swedish population.BJPsych open · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Neurodevelopmental problems (NPs) are more common in males, whereas anxiety and depression are more common in females. Rare copy number variants (CNVs) have been implicated in neurodevelopmental disorders. The aim of this study was to characterize the relationship between rare CNVs with NPs, anxiety, and depression in a childhood population sample, as well as to examine sex-specific effects. We analyzed a sample of N = 12,982 children, of whom 5.3% had narrowly defined NPs (clinically diagnosed), 20.9% had broadly defined NPs (based on validated screening measures, but no diagnosis), and 3.0% had clinically diagnosed anxiety or depression. Rare (<1% frequency) CNVs were categorized by size (100-500 kb or > 500 kb), type, and putative relevance to NPs. We tested for association of CNV categories with outcomes and examined sex-specific effects. Medium deletions (OR[CI] = 1.18[1.05-1.33], p = .0053) and large duplications (OR[CI] = 1.45[1.19-1.75], p = .00017) were associated with broadly defined NPs. Large deletions (OR[CI] = 1.85[1.14-3.01], p = .013) were associated with narrowly defined NPs. There were no significant sex differences in CNV burden in individuals with NPs. Although CNVs were not associated with anxiety/depression in the whole sample, in individuals diagnosed with these disorders, females were more likely to have large CNVs (OR[CI] = 3.75[1.45-9.68], p = .0064). Rare CNVs are associated with both narrowly and broadly defined NPs in a general population sample of children. Our results also suggest that large, rare CNVs may show sex-specific phenotypic effects.
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Registered trials
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.