Skip to content

Association of copy number variation across the genome with neuropsychiatric traits in the general population

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)489-502
Number of pages14
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Issue number5
Early online date24 Apr 2018
DateAccepted/In press - 27 Mar 2018
DateE-pub ahead of print - 24 Apr 2018
DatePublished (current) - Jul 2018


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.

    Research areas

  • childhood , ALSPAC, genetic epidemiology, structural variation

Download statistics

No data available



  • Full-text PDF (final published version)

    Rights statement: This is the final published version of the article (version of record). It first appeared online via WILEY at . Please refer to any applicable terms of use of the publisher

    Final published version, 802 KB, PDF-document

    Licence: CC BY


View research connections

Related faculties, schools or groups