Genome-wide Analysis of the Role of Copy Number Variation in Schizophrenia Risk in Chinese
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.
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In humans, duplication of the vasoactive intestinal polypeptide receptor (Vipr2) is associated with increased risk for schizophrenia.
“In humans, duplication of the vasoactive intestinal polypeptide receptor (Vipr2) is associated with increased risk for SZ170,171.”
From Circadian rhythm disruption and mental health (2020) · cites this paper as [171]
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- Authors
- Li, Z., Chen, J., Xu, Y., Yi, Q., Ji, W., Wang, P., Shen, J., Song, Z., Wang, M., Yang, P., Wang, Q., Feng, G., Liu, B., Sun, W., Xu, Q., Li, B., He, L., He, G., Li, W., Wen, Z., Liu, K., Huang, F., Zhou, J., Ji, J., Li, X., & Shi, Y.
- Affiliations
- Shanghai Jiao Tong University (CN)
- Xinjiang Medical University (CN)
- Wuhu Fourth People Hospital (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Corresponding author
- Shi, Yongyong
- ORCID
- Venue
- Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2016-08
- Volume
- 80
- Issue
- 4
- Pages
- 331-337
- ISSN
- 0006-3223 (ISSN-L)
- OpenAlex
- W2180629755
- Cited by
- 72
- References
- 38
- Citations by year
- 2026: 7 · 2025: 4 · 2024: 3 · 2023: 8 · 2022: 9 · 2021: 9 · 2020: 11 · 2019: 8 · 2018: 3 · 2017: 6 · 2016: 4
- FWCI
- 2.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Biological Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National 863 project (2012AA02A515, 2015CB559100)
- National High Technology Research and Development Program of China (2012AA021802)
- Natural Science Foundation of China (31325014, 81130022, 81272302, 81421061)
- Author of National Excellent Doctoral Dissertation of China (201026)
- Shanghai Key Laboratory of Psychotic Disorders (13dz2260500)
- Shanghai Municipal Education Commission and Shanghai Education Development Foundation (12SG17)
- Program of Shanghai Academic Research Leader (15XD1502200)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Health Sciences › Medicine › Psychiatry and Mental health › Schizophrenia research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- copy number variation, schizophrenia, Han Chinese, genetic susceptibility loci, CNV burden, 16p11.2 duplication, VIPR2, 22q11.2 deletion, NRXN1, neurodevelopmental genes, synaptic genes, genetic etiology
- MeSH terms
- Calcium-Binding Proteins, Female, Genotype, Humans, Male, Nerve Tissue Proteins, Schizophrenia, Cell Adhesion Molecules, Neuronal, Neural Cell Adhesion Molecules, Genetic Predisposition to Disease, Chromosome Disorders, Asian People, Receptors, Vasoactive Intestinal Peptide, Type II, Genome-Wide Association Study, DNA Copy Number Variations
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