Journal Article

DZNE-2020-03297

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Copy number variants in German patients with schizophrenia.

Priebe, L. ; Degenhardt, F. ; Strohmaier, J. ; Breuer, R. ; Herms, S. ; Witt, S. H. ; Hoffmann, P. ; Kulbida, R. ; Mattheisen, M. ; Moebus, S. ; Meyer-Lindenberg, A. ; Walter, H. ; Mössner, R. ; Nenadic, I. ; Sauer, H. ; Rujescu, D. ; Maier, W.DZNE* ; Rietschel, M. ; Nöthen, M. M.DZNE* ; Cichon, S. (Corresponding author)

2013
PLOS San Francisco, California, US

This record in other databases:    

Please use a persistent id in citations: doi:10.1371/journal.pone.0064035

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.

Keyword(s): Adult (MeSH) ; Case-Control Studies (MeSH) ; DNA Copy Number Variations (MeSH) ; European Continental Ancestry Group (MeSH) ; Female (MeSH) ; Genetic Loci (MeSH) ; Genetic Predisposition to Disease (MeSH) ; Genome-Wide Association Study (MeSH) ; Genotyping Techniques: statistics & numerical data (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Polymorphism, Single Nucleotide (MeSH) ; Psychotic Disorders: diagnosis (MeSH) ; Psychotic Disorders: ethnology (MeSH) ; Psychotic Disorders: genetics (MeSH) ; Risk Factors (MeSH) ; Schizophrenia: diagnosis (MeSH) ; Schizophrenia: ethnology (MeSH) ; Schizophrenia: genetics (MeSH)

---

Contributing Institute(s):

1. U Clinical Researchers - Bonn (U Clinical Researchers - Bonn)

Research Program(s):

1. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)
2. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2013

---

Database coverage:
; ; ; ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Ebsco Academic Search ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection ; Zoological Record

---