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Copy number variation and neuropsychiatric problems in females and males in the general population
Department of Medical Epidemiology & Biostatistics, Karolinska Institutet, Stockholm, Sweden; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, United Kingdom.
Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND), Department of Women's and Children's Health, Karolinska Institutet and Center for Psychiatry Research, Stockholm, Sweden.
Department of Medical Epidemiology & Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Department of Medical Epidemiology & Biostatistics, Karolinska Institutet, Stockholm, Sweden.
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2019 (English)In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 180, no 6, p. 341-350Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
John Wiley & Sons, 2019. Vol. 180, no 6, p. 341-350
Keywords [en]
anxiety, copy number variation, depression, neurodevelopmental problems, sex
National Category
Psychiatry Medical Genetics
Identifiers
URN: urn:nbn:se:oru:diva-69579DOI: 10.1002/ajmg.b.32685ISI: 000478086300003PubMedID: 30307693OAI: oai:DiVA.org:oru-69579DiVA, id: diva2:1256319
Funder
Swedish Research Council, 2017‐00641Wellcome trust, 106047Forte, Swedish Research Council for Health, Working Life and WelfareAvailable from: 2018-10-16 Created: 2018-10-16 Last updated: 2019-08-12Bibliographically approved

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