title: A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population.
abstract: BACKGROUND
  Schizophrenia (SCZ) is a common, complex and severe psychiatric disorder associated with many different genetic and environmental risk factors. Evidence from genetic studies has revealed the role of genome structural variations, specifically copy number variants (CNVs), in the etiology of SCZ. Nevertheless, the occurrence of CNVs and their relation to SCZ has remained relatively unstudied in the diverse Han Chinese population.
  
  
  RESULTS
  We used a case/control paradigm, including 476 cases and 1023 controls. All samples were genotyped using the Axiom® Exome Genotyping Arrays. Four CNVs, including two deletions and two duplications, were detected in this study. Notably, the 16p11.2 duplication from 29.3 Mb to 29.6 Mb was detected in four cases (0.84%) and one control (0.098%) (p= 0.0377).
  
  
  CONCLUSIONS
  The results highlight the potential role of these deletions and duplications in the development of SCZ. Clearly, larger sample sized studies are needed for a careful localization of these CNVs and to possibly detect more deletions and/or duplications, associated with the development of SCZ in the Han Chinese population.
authors.affiliation: Wuxi Mental Health Center, Nanjing Medial University, 156 Qianrong Road, Wuxi, 214151 Jiangsu Province China.
authors.forename: Jianmin
authors.initials: J
authors.lastname: Yuan
authors.affiliation: Wuxi Second Traditional Chinese Medicine Hospital, Wuxi, 214151 Jiangsu Province China.
authors.forename: Jianlin
authors.initials: J
authors.lastname: Hu
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Li
authors.affiliation: Wuxi Mental Health Center, Nanjing Medial University, 156 Qianrong Road, Wuxi, 214151 Jiangsu Province China.
authors.forename: Fuquan
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Wuxi Mental Health Center, Nanjing Medial University, 156 Qianrong Road, Wuxi, 214151 Jiangsu Province China.
authors.forename: Dexiang
authors.initials: D
authors.lastname: Zhou
authors.affiliation: Wuxi Mental Health Center, Nanjing Medial University, 156 Qianrong Road, Wuxi, 214151 Jiangsu Province China.
authors.forename: Chunhui
authors.initials: C
authors.lastname: Jin
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D058674:Chromosome Duplication; D056915:DNA Copy Number Variations; D059472:Exome; D005838:Genotype; D006801:Humans; D012559:Schizophrenia / Q000235:genetics*; D017384:Sequence Deletion
keywords: Copy number variants; Han Chinese; Schizophrenia