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CACNA1C基因多态性(rs1006737、rs4765905、rs2007044)与精神分裂症的关联:一项荟萃分析和试验序贯分析。

Association of CACNA1C polymorphisms (rs1006737, rs4765905, rs2007044) with schizophrenia: A meta-analysis and trial sequential analysis.

作者信息

Sarangi Surjyapratap, Sharma Saurav, Nahak Suraj Kumar, Panda Aditya K

机构信息

ImmGen EvSys Laboratory BT-113, Department of Biotechnology, Berhampur University, Bhanja Bihar, Berhampur, Odisha 760007, India; Department of Biosciences and Biomedical Engineering, Indian Institute of Technology, Indore 453552, India.

Department of Biosciences and Biomedical Engineering, Indian Institute of Technology, Indore 453552, India.

出版信息

Schizophr Res. 2024 Dec;274:247-256. doi: 10.1016/j.schres.2024.09.029. Epub 2024 Oct 7.

DOI:10.1016/j.schres.2024.09.029
PMID:39378823
Abstract

Schizophrenia is a complex neurological disorder characterized by significant impairment in the perception of reality and changes in behavior. Genetic and environmental factors influence the development of schizophrenia. CACNA1C, which encodes a subunit of a voltage-dependent calcium channel, has been associated with various neurological disorders, including schizophrenia. Several studies have been performed in different populations to explore the association of common genetic variants in the CACNA1C gene with susceptibility to the development of schizophrenia, but results remain contradictory. To draw a definitive conclusion on the association between CACNA1C polymorphisms and schizophrenia, we conducted a meta-analysis focusing on three commonly studied polymorphisms: rs1006737, rs4765905, and rs2007044. For the meta-analysis, a comprehensive literature search was performed using PubMed, Scopus, Science Direct and Google Scholar databases. Data was retrieved, and the meta-analysis was performed using CMA v4 software. The meta-analysis revealed a significant association between rs1006737 and rs2007044 and schizophrenia in the overall population, while no such association was found for rs4765905. Population-wise analysis suggested that all three polymorphisms were significantly associated with schizophrenia in the Asian population and that rs1006737 was significantly associated with schizophrenia in Europeans. We also performed a Trial Sequential Analysis (TSA), which supported our findings. Some report-based assay studies have suggested a role for these polymorphisms in schizophrenia, but further case-control studies are needed to confirm the association of rs4765905 and rs2007044 with the disorder.

摘要

精神分裂症是一种复杂的神经障碍,其特征是现实感知能力严重受损和行为改变。遗传和环境因素会影响精神分裂症的发展。编码电压依赖性钙通道亚基的CACNA1C与包括精神分裂症在内的多种神经障碍有关。已经在不同人群中进行了多项研究,以探讨CACNA1C基因常见遗传变异与精神分裂症易感性之间的关联,但结果仍然相互矛盾。为了就CACNA1C基因多态性与精神分裂症之间的关联得出明确结论,我们进行了一项荟萃分析,重点关注三个经常研究的多态性:rs1006737、rs4765905和rs2007044。对于荟萃分析,使用PubMed、Scopus、Science Direct和谷歌学术数据库进行了全面的文献检索。检索了数据,并使用CMA v4软件进行了荟萃分析。荟萃分析显示,在总体人群中,rs1006737和rs2007044与精神分裂症之间存在显著关联,而rs4765905未发现此类关联。按人群分析表明,所有这三个多态性在亚洲人群中与精神分裂症显著相关,而rs1006737在欧洲人群中与精神分裂症显著相关。我们还进行了试验序贯分析(TSA),这支持了我们的发现。一些基于报告的检测研究表明这些多态性在精神分裂症中起作用,但需要进一步的病例对照研究来证实rs4765905和rs2007044与该疾病的关联。

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