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Association of rare copy number variants with risk of depression

JAMA Aug 14, 2019

Kendall KM, Rees E, Bracher-Smith M, et al. - Through a case-control study of 407,074 people in the UK Biobank study, experts investigated the correlation of a group of 53 copy number variants (CNVs) related to neurodevelopmental disorders and burden of rare CNVs with the risk of depression. A total of 23,979 and 383,095 had self-reported lifetime depression and reported no lifetime depression, respectively. The group of 53 neurodevelopmental CNVs was related to self-reported depression, and these results were constant when using two alternative definitions of depression. This relationship was partly revealed by physical health, educational attainment, social deprivation, smoking status, and alcohol consumption. Between the neurodevelopmental CNVs and depression, in analyses that included these other measures, a strong independent correlation persisted. Eight individual CNVs were nominally related to a risk of depression, and three of these eight CNVs survived Bonferroni correction for the 53 CNVs tested. No relationship was ascertained between measures of CNV burden and depression, following the exclusion of carriers of neurodevelopmental CNVs. Therefore, neurodevelopmental CNVs seemed to be related to depression, extending the spectrum of clinical phenotypes that were correlated with CNV carrier status.
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