The First Affiliated Hospital of Xinjiang Medical University, No. 1 Liyushan Road, Xinshi, Urumqi 830054, China.
J Healthc Eng. 2022 Jan 28;2022:8680178. doi: 10.1155/2022/8680178. eCollection 2022.
Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous diseases that affects the myocardium. It is also a common familial disease. The symptoms are not common and easy to find.
In this paper, we aim to explore and analyze the dysfunctional gene network related to hypertrophic cardiomyopathy, and the key target genes with diagnostic and therapeutic significance for HCM were screened.
The gene expression profiles of 37 samples (GSE130036) were downloaded from the GEO database. Differential analysis was used to identify the related dysregulated genes in patients with HCM. Enrichment analysis identified the biological function and signaling pathway of these differentially expressed genes. Then, PPI network was built and verified in the GSE36961 dataset. Finally, the gene of single-nucleotide variants (SNVs) in HCM samples was screened by means of maftools.
In this study, 920 differentially expressed genes were obtained, and these genes were mainly related to metabolism-related signaling pathways. 187 interacting genes were identified by PPI network analysis, and the expression trends of C1QB, F13A1, CD163, FCN3, PLA2G2A, and CHRDL2 were verified by another dataset and quantitative real-time polymerase chain reaction. ROC curve analysis showed that they had certain clinical diagnostic ability, and they were the potential key dysfunctional genes of HCM. In addition, we found that PRMT5 mutation was the most frequent in HCM samples, which may affect the pathogenesis of HCM.
Therefore, the key genes and enrichment results identified by our analysis may provide a reference for the occurrence and development mechanism of HCM. In addition, mutations in PRMT5 may be a useful therapeutic and diagnostic target for HCM. Our results also provide an independent quantitative assessment of functional limitations in patients with unknown history.
肥厚型心肌病（HCM）是一组影响心肌的异质性疾病，也是一种常见的家族性疾病。其症状不常见且不易发现。
本研究旨在探讨和分析与肥厚型心肌病相关的功能失调基因网络，并筛选出对 HCM 具有诊断和治疗意义的关键靶基因。
从 GEO 数据库中下载了 37 个样本的基因表达谱（GSE130036）。采用差异分析鉴定 HCM 患者相关的失调基因。通过富集分析，确定这些差异表达基因的生物学功能和信号通路。然后，在 GSE36961 数据集上构建和验证 PPI 网络。最后，通过 maftools 筛选 HCM 样本中的单核苷酸变异（SNVs）基因。
本研究共获得 920 个差异表达基因，这些基因主要与代谢相关的信号通路有关。通过 PPI 网络分析鉴定出 187 个相互作用基因，通过另一数据集和定量实时聚合酶链反应验证了 C1QB、F13A1、CD163、FCN3、PLA2G2A 和 CHRDL2 的表达趋势。ROC 曲线分析表明，它们具有一定的临床诊断能力，是 HCM 的潜在关键功能失调基因。此外，我们发现 PRMT5 突变在 HCM 样本中最为常见，可能影响 HCM 的发病机制。
因此，本研究分析鉴定的关键基因和富集结果可能为 HCM 的发生和发展机制提供参考。此外，PRMT5 突变可能是治疗和诊断 HCM 的有用靶点。我们的研究结果还为具有未知病史的患者提供了功能限制的独立定量评估。
