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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Genome-wide Analysis of the Role of Copy Number Variation in Schizophrenia Risk in Chinese
Zhiqiang Li1, Jianhua Chen2, Yifeng Xu3
1Bio-X Institutes, Shanghai Jiao Tong University, Shanghai; Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) and the Collaborative Innovation Center for Brain Science; Institute of Social Cognitive and Behavioral Sciences, Shanghai Jiao Tong University, Shanghai; Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University;Shanghai.
Background:
Compelling evidence suggested the role of copy number variations (CNVs) in schizophrenia susceptibility. Most of the evidence was from studies in populations with European ancestry. We tried to validate the associated CNV loci in a Han Chinese population and identify novel loci conferring risk of schizophrenia.
Methods:
We performed a genome-wide CNV analysis on 6588 patients with schizophrenia and 11,904 control subjects of Han Chinese ancestry.
Results:
Our data confirmed increased genome-wide CNV (>500 kb and <1%) burden in schizophrenia, and the increasing trend was more significant when only >1 Mb CNVs were considered. We also replicated several associated loci that were previously identified in European populations, including duplications at 16p11.2, 15q11.2-13.1, 7q11.23, and VIPR2 and deletions at 22q11.2, 1q21.1-q21.2, and NRXN1. In addition, we discovered three additional new potential loci (odds ratio >6, p < .05): duplications at 1p36.32, 10p12.1, and 13q13.3, involving many neurodevelopmental and synaptic related genes.
Conclusions:
Our findings provide further support for the role of CNVs in the etiology of schizophrenia.
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