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 analyzed 6882 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 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 (P 500 kb), 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.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 analyzed 6882 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 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 (P 500 kb), 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 language | English (Ireland) |
|---|---|
| Journal | Hum Mol Genet |
| Volume | 23 |
| Issue number | 66 |
| Publication status | Published - 1 Mar 2014 |
Authors (Note for portal: view the doc link for the full list of authors)
- Authors
- Rees, E.,Walters, J. T.,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.,Sklar, P.,Hultman, C.,Pato, C.,Pato, M.,Sullivan, P. F.,Gejman, P. V.,McCarroll, S. A.,O'Donovan, M. C.,Owen, M. J.,Kirov, G.