Copy number variation and neuropsychiatric problems in females and males in the general population

Martin, Joanna ORCID: https://orcid.org/0000-0002-8911-3479, Tammimes, Kristiina, Karlsson, Robert, Lu, Yi, Larsson, Henrik, Lichtenstein, Paul and Magnusson, Patrik K.E. 2018. Copy number variation and neuropsychiatric problems in females and males in the general population. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 180 (6) , pp. 341-350. 10.1002/ajmg.b.32685

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher:	Wiley
ISSN:	1552-4841
Date of First Compliant Deposit:	28 September 2018
Date of Acceptance:	7 September 2018
Last Modified:	04 May 2023 19:30
URI:	https://orca.cardiff.ac.uk/id/eprint/115339

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