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

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 (SPEG) 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.

(I) SPEG 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 SPEG susceptibility was verified in the GSE41177 dataset. (II) The RS576016632 mutation of the SPEG 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).

SPEG was identified as a hub gene in the intersecting gene set (KCNJ4, SCN2B, MYH7, MYL3, and ACTA2). SPEG 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 SPEG in patients with AF in Guangxi was identified as a rare mutation.

The RS576016632 locus of SPEG in 189 patients was sequenced, but there was no G/A mutation. SPEG 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 SPEG may not be a significant risk factor for patients with AF in Guangxi.