Zhiqiang Li1, Jianhua Chen2, Yifeng Xu3, Qizhong Yi4, Weidong Ji5, Peng Wang6, Jiawei Shen7, Zhijian Song7, Meng Wang7, Ping Yang6, Qingzhong Wang7, Guoyin Feng3, Benxiu Liu8, Wensheng Sun8, Qi Xu9, Baojie Li7, Lin He10, Guang He7, Wenjin Li7, Zujia Wen7, Ke Liu7, Fang Huang7, Juan Zhou7, Jue Ji7, Xingwang Li7, Yongyong Shi11. 1. Bio-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. 2. Bio-X Institutes, Shanghai Jiao Tong University, Shanghai; Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai. 3. Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai. 4. Department of Psychiatry, the First Teaching Hospital of Xinjiang Medical University, Urumqi. 5. Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University;Shanghai; Changning Mental Health Center, Shanghai. 6. Wuhu Fourth People's Hospital, Wuhu. 7. Bio-X Institutes, Shanghai Jiao Tong University, Shanghai. 8. Longquan Mountain Hospital of Guangxi Province, Liuzhou. 9. National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing. 10. Bio-X Institutes, Shanghai Jiao Tong University, Shanghai; Institute of Neuropsychiatric Science and Systems Biological Medicine, Shanghai Jiao Tong University;Shanghai; Institutes of Biomedical Sciences, Fudan University, Shanghai. 11. Bio-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; Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai; Department of Psychiatry, the First Teaching Hospital of Xinjiang Medical University, Urumqi; Changning Mental Health Center, Shanghai; The Affiliated Hospital of Qingdao University, Qingdao, People's Republic of China. Electronic address: shiyongyong@gmail.com.
Abstract
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.
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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