ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2018
Association of copy number variation across the genome with neuropsychiatric traits 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, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.Molecular psychiatry · 2021Pooled it
- Update on ADHD genetics: A practitioner's perspective: Mise à jour sur la génétique du TDAH : le point de vue d'un praticien.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2026Review
- Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions.Journal of neurodevelopmental disorders · 2025Article
- Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.CJC pediatric and congenital heart disease · 2023Review
- Copy Number Variants Increasing Risk for Schizophrenia: Shared and Distinct Effects on Brain Morphometry and Cognitive Performance.Biological psychiatry global open science · 2023Article
- Gene copy number variation and pediatric mental health/neurodevelopment in a general population.Human molecular genetics · 2023Article
- A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.Translational psychiatry · 2023Review
- The contribution of copy number variants to psychiatric symptoms and cognitive ability.Molecular psychiatry · 2023Review
- Novel open reading frames in human accelerated regions and transposable elements reveal new leads to understand schizophrenia and bipolar disorder.Molecular psychiatry · 2022Article
- From genetics to systems biology of stress-related mental disorders.Neurobiology of stress · 2021Article
- Genetic architecture of Tourette syndrome: our current understanding.Psychological medicine · 2021Review
- Genome-wide study of copy number variation implicates multiple novel loci for schizophrenia risk in Han Chinese family trios.iScience · 2021Article
- Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.International journal of molecular sciences · 2021Review
- Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.European journal of human genetics : EJHG · 2021Article
- Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.Molecular genetics & genomic medicine · 2020Article
- Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing.International journal of molecular sciences · 2019Article
- Copy number variation and neuropsychiatric problems in females and males in the general population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019Article
- Article
- Association of copy number variation across the genome with neuropsychiatric traits in the general population.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2018Article
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Copy number variants (CNVs) are associated with psychiatric conditions in clinical populations. The relationship between rare CNV burden and neuropsychiatric traits in young, general populations is underexplored. A total of 6,807 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) were studied. CNVs were inferred from single nucleotide polymorphism-array data using PennCNV. After excluding children with known candidate CNVs for schizophrenia (SCZ), rare (<1%) CNV burden (total number of genes affected by CNVs, total length of CNVs, and largest CNV carried) was analyzed in relation to: psychotic experiences (PEs) and anxiety/depression in adolescence; autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD), ASD and ADHD traits, and cognitive measures during childhood. Outcomes were also assessed in relation to known SCZ CNVs. The number of genes affected by rare CNVs was associated with a continuous measure of ASD: the standardized mean difference [SMD] per gene affected was increased by 0.018 [95%CI 0.011,0.025], p = 3e-07 for duplications and by 0.021 [95%CI 0.010, 0.032], p = 1e-04 for deletions. In line with our published results on educational attainment in ALSPAC, intelligence quotient (IQ) was associated with CNV burden: the SMD per gene affected was -0.017 [95%CI -0.025, -0.008] p = 1e-04 for duplications and -0.023 [95%CI -0.037, -0.009], p = .002 for deletions. Associations were also observed for measures of coherence, attention, memory, and social cognition. SCZ-associated deletions were associated with IQ (SMD: -0.617 [95%CI -0.936, -0.298], p = 2e-04), but not with PEs or other traits. We found that rare CNV burden and known SCZ candidate CNVs are associated with neuropsychiatric phenotypes in a nonclinically ascertained sample of young people.
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