Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications

摘要: Objective:To evaluate previously reported associations of copy number variants (CNVs) with schizophrenia and to identify additional associations, the authors analyzed CNVs in Molecular Genetics Schizophrenia study (MGS) available data. Method:After quality control, MGS data for 3,945 subjects or schizoaffective disorder 3,611 screened comparison were analysis rare (<1% frequency). CNV detection thresholds chosen that maximized concordance 151 duplicate assays. Pointwise genewise analyses carried out, as well regions. Selected regions visually inspected confirmed quantitative polymerase chain reaction. Results:In combined other sets, odds ratios 7.5 greater observed deletions chromosomes 1q21.1, 15q13.3, 22q11.21, duplications 16p11.2, exon-disrupting NRXN1. The mos...