Copy number variation in bipolar disorder

Green, E. K., Rees, E. ORCID: https://orcid.org/0000-0002-6168-9222, Walters, J. T. R. ORCID: https://orcid.org/0000-0002-6980-4053, Smith, K-G, Forty, L., Grozeva, D. ORCID: https://orcid.org/0000-0003-3239-8415, Moran, J. L., Sklar, P., Ripke, S., Chambert, K. D., Genovese, G., McCarroll, S. A., Jones, I. ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L. ORCID: https://orcid.org/0000-0001-5821-5889, Owen, M. J. ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, M. C. ORCID: https://orcid.org/0000-0001-7073-2379, Craddock, N. ORCID: https://orcid.org/0000-0003-2171-0610 and Kirov, G. ORCID: https://orcid.org/0000-0002-3427-3950 2015. Copy number variation in bipolar disorder. Molecular Psychiatry 21 (1) , pp. 89-93. 10.1038/mp.2014.174

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Abstract

Large (4100 kb), rare (o1% in the population) copy number variants (CNVs) have been shown to confer risk for schizophrenia (SZ), but the findings for bipolar disorder (BD) are less clear. In a new BD sample from the United Kingdom (n = 2591), we have examined the occurrence of CNVs and compared this with previously reported samples of 6882 SZ and 8842 control subjects. When combined with previous data, we find evidence for a contribution to BD for three SZ-associated CNV loci: duplications at 1q21.1 (P = 0.022), deletions at 3q29 (P = 0.03) and duplications at 16p11.2 (P = 2.3 × 10− 4). The latter survives multiple-testing correction for the number of recurrent large CNV loci in the genome. Genes in 20 regions (total of 55 genes) were enriched for rare exonic CNVs among BD cases, but none of these survives correction for multiple testing. Finally, our data provide strong support for the hypothesis of a lesser contribution of very large (4500 kb) CNVs in BD compared with SZ, most notably for deletions 41Mb (P=9×10− 4).

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Advanced Research Computing @ Cardiff (ARCCA) Medicine Neuroscience and Mental Health Research Institute (NMHRI) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Additional Information:	This work is licensed under a Creative Commons Attribution 4.0 International License
Publisher:	Springer Nature
ISSN:	1359-4184
Funders:	MRC, NERC
Date of First Compliant Deposit:	30 March 2016
Date of Acceptance:	5 November 2014
Last Modified:	12 Oct 2023 04:45
URI:	https://orca.cardiff.ac.uk/id/eprint/72246

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