CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

Elliott Rees, James T. R. Walters, Kimberly D. Chambert, Colm O'Dushlaine, Jin Szatkiewicz, Alexander L. Richards, Lyudmila Georgieva, Gerwyn Mahoney-Davies, Sophie E. Legge, Jennifer L. Moran, Giulio Genovese, Douglas Levinson, Derek W. Morris, Paul Cormican, Kenneth S. Kendler, Francis A. O'Neill, Brien Riley, Michael Gill, Aiden Corvin, Wellcome Trust Case Control ConsortiumPamela Sklar, Christina Hultman, Carlos Pato, Michele Pato, Patrick F. Sullivan, Pablo V. Gejman, Steven A. McCarroll, Michael C. O'Donovan, Michael J. Owen, George Kirov

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Abstract

Large and rare copy number variants (CNVs) at several loci have been shown to increase risk for schizophrenia. Aiming to discover novel susceptibility CNV loci, we analysed 6,882 cases and 11,255 controls genotyped on Illumina arrays, most of which have not been used for this purpose before. We identified genes enriched for rare exonic CNVs among cases, and then attempted to replicate the findings in an additional 14,568 cases and 15,274 controls. In a combined analysis of all samples, 12 distinct loci were enriched among cases with nominal levels of significance (P500kb), rare CNVs showed a 1.2% excess in cases after excluding known schizophrenia-associated loci, suggesting that additional susceptibility loci exist. However, even larger samples are required for their discovery.
Original languageEnglish
Pages (from-to)1669-1676
JournalHuman Molecular Genetics
Volume23
Issue number6
DOIs
Publication statusPublished - 26 Oct 2013

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    Rees, E., Walters, J. T. R., Chambert, K. D., O'Dushlaine, C., Szatkiewicz, J., Richards, A. L., Georgieva, L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., Genovese, G., Levinson, D., Morris, D. W., Cormican, P., Kendler, K. S., O'Neill, F. A., Riley, B., Gill, M., Corvin, A., ... Kirov, G. (2013). CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Human Molecular Genetics, 23(6), 1669-1676. https://doi.org/10.1093/hmg/ddt540