Association of Rare Copy Number Variants With Risk of Depression
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Importance: The role of large, rare copy number variants (CNVs) in neuropsychiatric disorders is well established, but their association with common psychiatric disorders, such as depression, remains unclear. Objective: To examine the association of a group of 53 CNVs associated with neurodevelopmental disorders and burden of rare CNVs with risk of depression. Design, Setting, and Participants: This case-control study used data from the UK Biobank study sample, which comprised 502 534 individuals living in the United Kingdom. Individuals with autism spectrum disorder, intellectual disability, attention-deficit/hyperactivity disorder, schizophrenia, or bipolar affective disorder diagnoses were excluded. Analyses were further restricted to individuals of European genetic ancestry (n = 407 074). The study was conducted from January 2017 to September 2018. Exposures: CNV carrier status. Main Outcomes and Measures: For the primary outcome, individuals who reported that a physician had told them they had a depression diagnosis were defined as cases. Analyses were repeated using 2 alternative depression definitions: self-reported lifetime depression with current antidepressant prescription at the time of visit 1, and hospital discharge diagnosis of depression. Results: Copy number variants were identified in 488 366 individuals aged 37 to 73 years. In total, 407 074 individuals with European genetic ancestry (220 201 female [54.1%]; mean [SD] age of 56.9 [8.0] years) were included in the study. Of these individuals, 23 979 (5.9%) had self-reported lifetime depression and 383 095 (94.1%) reported no lifetime depression. The group of 53 neurodevelopmental CNVs was associated with self-reported depression (odds ratio [OR], 1.34; 95% CI, 1.19-1.49, uncorrected P = 1.38 × 10-7), and these results were consistent when using 2 alternative definitions of depression. This association was partially explained by physical health, educational attainment, social deprivation, smoking status, and alcohol consumption. A strong independent association remained between the neurodevelopmental CNVs and depression in analyses that incorporated these other measures (OR, 1.26; 95% CI, 1.11-1.43; P = 2.87 × 10-4). Eight individual CNVs were nominally associated with risk of depression, and 3 of these 8 CNVs (1q21.1 duplication, Prader-Willi syndrome duplication, and 16p11.2 duplication) survived Bonferroni correction for the 53 CNVs tested. After the exclusion of carriers of neurodevelopmental CNVs, no association was found between measures of CNV burden and depression. Conclusions and Relevance: Neurodevelopmental CNVs appear to be associated with depression, extending the spectrum of clinical phenotypes that are associated with CNV carrier status.
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16p11.2 deletions and duplications are linked to depression and anxiety.
“16p11.2 deletions and duplications are linked to several other psychiatric conditions, including depression [14, 47] and anxiety [12, 14, 18, 19, 23, 34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [47]
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Genetics of bipolar disorder and schizophrenia
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- Authors
- Kendall, K. M., Rees, E., Bracher-Smith, M., Legge, S., Riglin, L., Zammit, S., O’Donovan, M. C., Owen, M. J., Jones, I., Kirov, G., & Walters, J. T. R.
- Affiliations
- Cardiff University (GB)
- MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, United Kingdom
- University of Bristol (GB)
- Corresponding author
- Walters, James Tynan Rhys
- ORCID
- Venue
- JAMA Psychiatry
- Publisher
- American Medical Association (AMA)
- Published
- 2019-08-01
- Volume
- 76
- Issue
- 8
- Pages
- 818
- ISSN
- 2168-622X (ISSN-L)
- PMC
- PMC6583866
- OpenAlex
- W2938501314
- Cited by
- 144
- References
- 44
- Citations by year
- 2026: 10 · 2025: 20 · 2024: 20 · 2023: 16 · 2022: 23 · 2021: 21 · 2020: 29 · 2019: 4 · 2018: 1
- FWCI
- 11.60
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- JAMA Psychiatry (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (acceptedVersion)
- Explore Bristol Research (submittedVersion, cc-by)
- Bristol Research (University of Bristol) (submittedVersion, cc-by)
- Funders
- Wellcome Trust (201171/Z/16/Z)
- MQ: Transforming Mental Health (MQDS16/36)
- Medical Research Council (MR/L011794/1, MR/P005748/1, MR/L010305/1)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- copy number variation, depression, rare variants, neurodevelopmental disorders, genetic risk factors, mental illness, UK Biobank, antidepressant prescribing, European ancestry, alcohol and tobacco use, educational attainment, social deprivation
- MeSH terms
- Adult, Aged, Alcohol Drinking, Depressive Disorder, Educational Status, Female, United Kingdom, Health Status, Humans, Male, Middle Aged, Psychosocial Deprivation, Risk, Severity of Illness Index, Smoking, Case-Control Studies, Biological Specimen Banks, Genetic Predisposition to Disease, DNA Copy Number Variations, Neurodevelopmental Disorders
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