







































Item type: | Article | ||||
---|---|---|---|---|---|
Journal or Publication Title: | Nature Genetics | ||||
Publisher: | Nature | ||||
Place of Publication: | NEW YORK | ||||
Volume: | 49 | ||||
Number of Issue or Book Chapter: | 1 | ||||
Page Range: | pp. 27-35 | ||||
Date: | 2017 | ||||
Institutions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie | ||||
Identification Number: |
| ||||
Keywords: | GENE; 16P11.2; AUTISM; RISK; CNVS; REARRANGEMENTS; DUPLICATIONS; PHENOTYPES; DISORDERS; MUTATIONS; | ||||
Dewey Decimal Classification: | 100 Philosophy & psychology > 150 Psychology | ||||
Status: | Published | ||||
Refereed: | Yes, this version has been refereed | ||||
Created at the University of Regensburg: | Yes | ||||
Item ID: | 38837 |
Abstract
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed ...

Abstract
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 x 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.
Metadata last modified: 18 Dec 2020 06:13