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Copy Number Variation in Bipolar Disorder

Green, E.K. and Rees, E. and Walters, J.T.R. and Gordon-Smith, Katherine and Forty, L. and Grozeva, D. and Moran, J.L. and Sklar, P. and Ripke, S. and Chambert, K.D. and Genovese, G. and McCarroll, S.A. and Jones, I. and Jones, Lisa and Owen, M.J. and O'Donovan, M.C. and Craddock, N. and Kirov, G. (2016) Copy Number Variation in Bipolar Disorder. Molecular Psychiatry, 21. pp. 89-93. ISSN Print: 1359-4184 Online: 1476-5578

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Abstract

Large (>100 kb), rare (<1% 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 (>500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10-4).

Item Type: Article
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Uncontrolled Keywords: bipolar disorder, copy number variation, CNVs, genetics
Subjects: B Philosophy. Psychology. Religion > BF Psychology
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Divisions: Academic Departments > Institute of Health and Society
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Copyright Info: Open Access article
Depositing User: Lisa Jones
Date Deposited: 30 Oct 2015 08:38
Last Modified: 18 Dec 2015 18:03
URI: https://eprints.worc.ac.uk/id/eprint/4021

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