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

Guyatt, Anna L., Stergialouli, Evie, Martin, Joanna ORCID:, Walters, James, O'Donovan, Michael Conlon ORCID:, Owen, Michael J. ORCID:, Thapar, Anita ORCID:, Kirov, George ORCID:, Rodriguez, Santiago, Rai, Dheeraj and Zammit, Stanley ORCID: 2018. Association of copy number variation across the genome with neuropsychiatric traits in the general population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 (5) , pp. 489-502. 10.1002/ajmg.b.32637

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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. 6807 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) were studied. CNVs were inferred from SNP-array data using PennCNV. After excluding children with known candidate CNVs for schizophrenia, rare (<1%) CNV burden (total number of genes affected by CNVs, total length of CNVs, and largest CNV carried) was analysed 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 schizophrenia CNVs. The number of genes affected by rare CNVs was associated with a continuous measure of ASD: the standardised 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 published results on educational attainment in ALSPAC, 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=0.002 for deletions. Associations were also observed for measures of coherence, attention, memory, and social cognition. Schizophrenia-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 schizophrenia candidate CNVs are associated with neuropsychiatric phenotypes in a non-clinically ascertained sample of young people.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Wiley: 12 months
ISSN: 1552-4841
Date of First Compliant Deposit: 9 April 2018
Date of Acceptance: 27 March 2018
Last Modified: 05 May 2023 00:49

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