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横纹肌优先表达基因()的表达与心房颤动发展之间的关系。

Relationship between the expression of striated preferentially expressed gene () and the development of atrial fibrillation.

作者信息

Wei Jiaochang, Yu Lanqing, Liu Yuhua, Ye Shaowu, Song Bo, Deng Yimin, Lu Qian, Deng Bailu

机构信息

School of Clinical Medicine, Youjiang Medical University for Nationalities, Baise, China.

Cardiovascular Medicine, Wuzhou People's Hospital, Wuzhou, China.

出版信息

J Thorac Dis. 2025 Mar 31;17(3):1723-1735. doi: 10.21037/jtd-2025-456. Epub 2025 Mar 27.

Abstract

BACKGROUND

Atrial fibrillation (AF) is a heart rate disorder associated with a high disability rate. A number of genes involved in core coding are also implicated in the development of AF. The striated preferentially expressed gene () is a newly discovered gene related to the pathogenesis of AF. It promotes disease development by participating in fibrosis and abnormal ion channel function. In this study, the high-risk genes of AF disease were screened by bioinformatics analysis, and the gene polymorphism and gene expression of AF related genes were further analyzed.

METHODS

(I) was selected as the core gene of AF according to gene intersection, protein-protein interaction (PPI), and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses based on Gene Expression Omnibus (GEO) and GeneCards databases; additionally, the diagnostic value of susceptibility was verified in the GSE41177 dataset. (II) The RS576016632 mutation of the gene in patients with AF in Guangxi was detected by unit point sequencing, and SPEG gene expression was detected via quantitative polymerase chain reaction (qPCR).

RESULTS

was identified as a hub gene in the intersecting gene set (, and ). expression was significantly different between the AF and sinus rhythm (SR) groups (P<0.001). Additionally, the area under the receiver operating characteristic (ROC) curve was 0.92. AF hub genes were found to be involved primarily in biological processes (BPs) associated with positive regulation of transcription by RNA polymerase II. The G/A mutation at the RS576016632 locus of in patients with AF in Guangxi was identified as a rare mutation.

CONCLUSIONS

The RS576016632 locus of in 189 patients was sequenced, but there was no G/A mutation. is closely associated with the development of AF and demonstrates high accuracy in predicting the risk of AF. However, the rs576016632 G/A mutation in may not be a significant risk factor for patients with AF in Guangxi.

摘要

背景

心房颤动(AF)是一种与高致残率相关的心率紊乱疾病。许多参与核心编码的基因也与AF的发生发展有关。横纹肌优先表达基因(SPEG)是新发现的与AF发病机制相关的基因。它通过参与纤维化和异常离子通道功能促进疾病发展。本研究通过生物信息学分析筛选AF疾病的高危基因,并进一步分析AF相关基因的基因多态性和基因表达。

方法

(I)基于基因表达综合数据库(GEO)和基因卡片数据库,通过基因交集、蛋白质-蛋白质相互作用(PPI)、基因本体论(GO)和京都基因与基因组百科全书(KEGG)分析,将SPEG选为AF的核心基因;此外,在GSE41177数据集中验证SPEG易感性的诊断价值。(II)通过单核苷酸测序检测广西AF患者中SPEG基因的RS576016632突变,并通过定量聚合酶链反应(qPCR)检测SPEG基因表达。

结果

SPEG被确定为交集基因集中的枢纽基因(JPH2、MYH6和TPM1)。AF组和窦性心律(SR)组之间的SPEG表达存在显著差异(P<0.001)。此外,受试者操作特征(ROC)曲线下面积为0.92。发现AF枢纽基因主要参与与RNA聚合酶II转录正调控相关的生物学过程(BPs)。广西AF患者中SPEG基因RS576016632位点的G/A突变被确定为罕见突变。

结论

对189例患者的SPEG基因RS576016632位点进行了测序,但未发现G/A突变。SPEG与AF的发生发展密切相关,在预测AF风险方面具有较高的准确性。然而,SPEG基因中的rs576016632 G/A突变可能不是广西AF患者的重要危险因素。

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