title: Copy number variants in German patients with schizophrenia.
abstract: Large rare copy number variants (CNVs) have been recognized as significant genetic risk factors for the development of schizophrenia (SCZ). However, due to their low frequency (1∶150 to 1∶1000) among patients, large sample sizes are needed to detect an association between specific CNVs and SCZ. So far, the majority of genome-wide CNV analyses have focused on reporting only CNVs that reached a significant P-value within the study cohort and merely confirmed the frequency of already-established risk-carrying CNVs. As a result, CNVs with a very low frequency that might be relevant for SCZ susceptibility are lost for secondary analyses. In this study, we provide a concise collection of high-quality CNVs in a large German sample consisting of 1,637 patients with SCZ or schizoaffective disorder and 1,627 controls. All individuals were genotyped on Illumina's BeadChips and putative CNVs were identified using QuantiSNP and PennCNV. Only those CNVs that were detected by both programs and spanned ≥30 consecutive SNPs were included in the data collection and downstream analyses (2,366 CNVs, 0.73 CNVs per individual). The genome-wide analysis did not reveal a specific association between a previously unknown CNV and SCZ. However, the group of CNVs previously reported to be associated with SCZ was more frequent in our patients than in the controls. The publication of our dataset will serve as a unique, easily accessible, high-quality CNV data collection for other research groups. The dataset could be useful for the identification of new disease-relevant CNVs that are currently overlooked due to their very low frequency and lack of power for their detection in individual studies.
authors.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Lutz
authors.initials: L
authors.lastname: Priebe
authors.forename: Franziska
authors.initials: F
authors.lastname: Degenhardt
authors.forename: Jana
authors.initials: J
authors.lastname: Strohmaier
authors.forename: René
authors.initials: R
authors.lastname: Breuer
authors.forename: Stefan
authors.initials: S
authors.lastname: Herms
authors.forename: Stephanie H
authors.initials: SH
authors.lastname: Witt
authors.forename: Per
authors.initials: P
authors.lastname: Hoffmann
authors.forename: Rebecca
authors.initials: R
authors.lastname: Kulbida
authors.forename: Manuel
authors.initials: M
authors.lastname: Mattheisen
authors.forename: Susanne
authors.initials: S
authors.lastname: Moebus
authors.forename: Andreas
authors.initials: A
authors.lastname: Meyer-Lindenberg
authors.forename: Henrik
authors.initials: H
authors.lastname: Walter
authors.forename: Rainald
authors.initials: R
authors.lastname: Mössner
authors.forename: Igor
authors.initials: I
authors.lastname: Nenadic
authors.forename: Heinrich
authors.initials: H
authors.lastname: Sauer
authors.forename: Dan
authors.initials: D
authors.lastname: Rujescu
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Maier
authors.forename: Marcella
authors.initials: M
authors.lastname: Rietschel
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Sven
authors.initials: S
authors.lastname: Cichon
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D056915:DNA Copy Number Variations; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D060005:Genotyping Techniques / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011618:Psychotic Disorders / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D012307:Risk Factors; D012559:Schizophrenia / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D044465:White People