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.
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.
Biol Psychiatry. 2016 Aug 15;80(4):331-337. doi: 10.1016/j.biopsych.2015.11.012. Epub 2015 Nov 26.
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.
We performed a genome-wide CNV analysis on 6588 patients with schizophrenia and 11,904 control subjects of Han Chinese ancestry.
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.
Our findings provide further support for the role of CNVs in the etiology of schizophrenia.
大量证据表明，拷贝数变异（CNVs）在精神分裂症易感性中起作用。这些证据大多来自欧洲血统人群的研究。我们试图在汉族人群中验证相关的 CNV 基因座，并确定新的基因座赋予精神分裂症的风险。
我们对 6588 名汉族精神分裂症患者和 11904 名对照进行了全基因组 CNV 分析。
我们的数据证实了精神分裂症全基因组 CNV（>500 kb 和 <1%）负担增加，当仅考虑>1 Mb 的 CNVs 时，增加趋势更为显著。我们还复制了几个以前在欧洲人群中发现的相关基因座，包括 16p11.2、15q11.2-13.1、7q11.23 和 VIPR2 重复，以及 22q11.2、1q21.1-q21.2 和 NRXN1 缺失。此外，我们还发现了三个额外的新的潜在基因座（比值比>6，p<.05）：1p36.32、10p12.1 和 13q13.3 的重复，涉及许多神经发育和突触相关基因。
我们的研究结果进一步支持了 CNVs 在精神分裂症发病机制中的作用。
