TY - JOUR
T1 - CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1
AU - Rees, Elliott
AU - Walters, James T. R.
AU - Chambert, Kimberly D.
AU - O'Dushlaine, Colm
AU - Szatkiewicz, Jin
AU - Richards, Alexander L.
AU - Georgieva, Lyudmila
AU - Mahoney-Davies, Gerwyn
AU - Legge, Sophie E.
AU - Moran, Jennifer L.
AU - Genovese, Giulio
AU - Levinson, Douglas
AU - Morris, Derek W.
AU - Cormican, Paul
AU - Kendler, Kenneth S.
AU - O'Neill, Francis A.
AU - Riley, Brien
AU - Gill, Michael
AU - Corvin, Aiden
AU - Wellcome Trust Case Control Consortium
AU - Sklar, Pamela
AU - Hultman, Christina
AU - Pato, Carlos
AU - Pato, Michele
AU - Sullivan, Patrick F.
AU - Gejman, Pablo V.
AU - McCarroll, Steven A.
AU - O'Donovan, Michael C.
AU - Owen, Michael J.
AU - Kirov, George
PY - 2013/10/26
Y1 - 2013/10/26
N2 - 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.
AB - 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.
U2 - 10.1093/hmg/ddt540
DO - 10.1093/hmg/ddt540
M3 - Article
C2 - 24163246
SN - 0964-6906
VL - 23
SP - 1669
EP - 1676
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 6
ER -