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http://ir.nhri.org.tw/handle/3990099045/16402
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| Title: | The contribution of copy number variants to schizophrenia: From a genome-wide study in east asian populations |
| Authors: | Chen, Y;Feng, QD;Yu, MR;Lam, M;Sawa, A;Tang, JS;Ma, XC;Chen, WJ;Qin, SY;Yue, WH;Ge, T;Huang, HL;Stanley Ctr, A |
| Contributors: | Center for Neuropsychiatric Research |
| Abstract: | Individual Abstract: Here, we present a study on rare copy number variants (rCNVs) in schizophrenia, emphasizing the shift from traditional European (EUR) populations to a large East Asian (EAS) cohort, the largest to date, with 20,903 cases and 23,258 controls. The study confirms previous findings about the heightened genome-wide rCNV burden in schizophrenia patients within this EAS cohort. A combined meta-analysis of EAS and EUR cohorts, totaling 38,409 cases and 40,009 controls, identified 15 significant rCNV loci. Of these, five were novel, found at locations 1q21.2, 8p21.3, 11q13.1, 19p13.3, and 19q13.42. The comparison between EAS and EUR data suggested that differences in rCNV frequencies contribute to variability in discovery power across these populations rather than differences in genetic effect sizes. Among the eight rCNV loci implicated in the PGC EUR study with genome-wide significance, seven had rCNVs captured in the EAS dataset, among which three achieved genome-wide significance (P<6.88e-5, 22q11.21 deletion, 3q29 deletion, and 16p11.2 duplication) and an additional three reached nominal significance (P < 0.05, 1q21.1 deletion, 16p11.2 deletion, and 7q11.23 duplication). None of these loci showed a significant difference in effect size between the two populations. rCNVs, particularly, are significant as they have a pronounced potential to disrupt neuronal development and synaptic connectivity. The discovery of novel rCNV loci in the EAS population enriches our understanding of the genetic architecture of schizophrenia and underscores the potential influence of rCNVs on neurodevelopmental processes. Comparing rCNV profiles between EAS and EUR cohorts illuminates how population-specific genomic structures can influence the prevalence and impact of these genetic variations. The current findings underscore the variability in genetic factors influencing schizophrenia across different populations and highlight the necessity of expanding genetic studies to include diverse populations beyond those of European descent. Identifying novel loci in the EAS population not only enriches our understanding of the genetic architecture of schizophrenia but also suggests that population-specific genetic variations could be crucial for tailoring more effective diagnostics and treatments. Furthermore, this study enhances our understanding of the genetic diversity and complexity of schizophrenia, contributing valuable insights into how different populations may exhibit unique genetic profiles that influence the disease. By exploring these distinctions, the research advocates for a more inclusive approach to genetic research, which is essential for developing global health strategies and interventions sensitive to genetic diversity. This aligns with the conference theme by emphasizing the importance of including diverse genetic backgrounds to achieve a more comprehensive understanding of psychiatric disorders. |
| Date: | 2024-10 |
| Relation: | European Neuropsychopharmacology. 2024 Oct;87(Suppl. 1):27. |
| Link to: | http://dx.doi.org/10.1016/j.euroneuro.2024.08.069 |
| JIF/Ranking 2023: | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=&DestApp=IC2JCR |
| Cited Times(WOS): | https://www.webofscience.com/wos/woscc/full-record/WOS:001336799000053 |
| Appears in Collections: | [陳為堅] 會議論文/會議摘要
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| ISI001336799000053.pdf | | 66Kb | Adobe PDF | 4 | View/Open |
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