Professor James WaltersMRC Centre for Neuropsychiatric Genetics and GenomicsProfessor, Division of Psychological Medicine and Clinical Neurosciences

DNA Copy Number Variants Linked to Increased Risk of Depression Interview with:

Dr Kimberley Kendall MBBChWellcome Trust Clinical Research Fellow

Dr. Kendall

Dr Kimberley Kendall MBBCh
Wellcome Trust Clinical Research Fellow

Professor James WaltersMRC Centre for Neuropsychiatric Genetics and GenomicsProfessor, Division of Psychological Medicine and Clinical Neurosciences

Prof. Walters

Professor James Walters
MRC Centre for Neuropsychiatric Genetics and Genomics
Professor, Division of Psychological Medicine and Clinical Neurosciences

Cardiff University What is the background for this study?

Response: Copy number variants (CNVs) are the deletion or duplication of large sections of DNA. Large, rare CNVs have been shown to increase the risk of neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability (ID), attention deficit/hyperactivity disorder (ADHD) and schizophrenia. However, the impact of these CNVs on risk of depression was unclear from the existing literature. What are the main findings? 

Response: We examined the role of 53 CNVs known to be associated with an increased risk of ASD and ID, in depression. As a group neurodevelopmental CNVs increased the risk of depression by between 1.34 and 1.51 times, depending on how the disorder was defined. A very small proportion of the relationship between these CNVs and depression was accounted for by physical health, educational attainment, social deprivation, smoking status and alcohol consumption. What should readers take away from your report? 

Response: Copy number variants known to be associated with neurodevelopmental disorders also increase the risk of depression. This study extends the spectrum of clinical phenotypes associated with CNV carrier status. What recommendations do you have for future research as a result of this work? 

Response: The examination of longitudinal data on social deprivation is needed to establish the direction of causation between depression and social deprivation.


This study was funded in part by a Wellcome Trust Clinical Research Training Fellowship award (K Kendall). The work at Cardiff University was supported by MRC Centre grant MR/L010305/1, Program grant G0800509 and Project grant MR/L011794/1. Professor O’Donovan received a grant from the MRC (MR/P005748/1). Professors Owen and Walters received grants from Takeda Pharmaceuticals outside of the submitted work.


Kendall KM, Rees E, Bracher-Smith M, et al. Association of Rare Copy Number Variants With Risk of Depression. JAMA Psychiatry. Published online April 17, 2019. doi:10.1001/jamapsychiatry.2019.0566

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Last Updated on April 19, 2019 by Marie Benz MD FAAD