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Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank

Anthony Warland, Kimberley M Kendall, Elliott Rees, George Kirov, Xavier Caseras
doi: https://doi.org/10.1101/374678
Anthony Warland
1MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK
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Kimberley M Kendall
1MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK
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Elliott Rees
1MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK
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George Kirov
1MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK
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Xavier Caseras
1MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK
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  • For correspondence: CaserasX@cardiff.ac.uk
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Abstract

Schizophrenia is a highly heritable disorder for which anatomical brain alterations have been repeatedly reported in clinical samples. Unaffected at-risk groups have also been studied in an attempt to identify brain changes that do not reflect reverse causation or treatment effects. However, no robust associations have been observed between neuroanatomical phenotypes and known genetic risk factors for schizophrenia. We tested subcortical brain volume differences between 49 unaffected participants carrying at least one of the 12 copy number variants associated with schizophrenia in UK Biobank and 9,063 individuals who did not carry any of the 93 copy number variants reported to be pathogenic. Our results show that CNV carriers have reduced volume in some of the subcortical structures previously shown to be reduced in schizophrenia. Moreover, these associations were partially accounted for by the association between pathogenic copy number variants and cognitive impairment, which is one of the features of schizophrenia.

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Posted January 23, 2019.
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Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank
Anthony Warland, Kimberley M Kendall, Elliott Rees, George Kirov, Xavier Caseras
bioRxiv 374678; doi: https://doi.org/10.1101/374678
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Schizophrenia-associated genomic copy number variants and subcortical brain volumes in the UK Biobank
Anthony Warland, Kimberley M Kendall, Elliott Rees, George Kirov, Xavier Caseras
bioRxiv 374678; doi: https://doi.org/10.1101/374678

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