Zheng Xifeng, Yang Yu, Huang Fu Changmei, Huang Ruina
Department of Geriatrics in Affiliated Hospital of Guangdong Medical University, People's Republic of China.
Department of Cardiology in Affiliated Hospital of Guangdong Medical University, People's Republic of China.
Life Sci. 2021 Nov 15;285:119956. doi: 10.1016/j.lfs.2021.119956. Epub 2021 Sep 11.
To explore immune cell infiltration characteristics of, and hub genes associated with, hypertrophic cardiomyopathy (HCM).
The GSE130036 dataset was downloaded and the differentially expressed genes (DEGs) were identified. The DEGs were analyzed via the CIBERSORT algorithm to understand the composition of 22 immune cell types between the HCM and normal myocardial tissue specimens. Weighted gene co-expression network analysis (WGCNA) was performed to segregate the DEGs into several modules and explore correlation between the key modules and specific immune cells enriched in the myocardial tissues of HCM patients. The biofunctional and disease enrichment of the genes among the modules was explored, and hub genes serving as potential biomarkers of HCM were identified. These genes were validated by GSE36961 dataset, and the discrimination ability was assessed by receiver operating characteristic curve analysis.
CIBERSORT analysis showed that neutrophils and B-cells (naive and memory B-cells) were highly abundant in HCM samples, while macrophages (M0, M1, M2) were highly abundant in normal samples. WGCNA analysis of the DEGs yielded seven modules, and the gray and yellow modules were strongly associated with neutrophils and B-cells, and with macrophages, respectively. Yellow module genes were mainly functional in immune and inflammation processes. Gray module genes were mainly functional in the transportation of intercellular substances. SLITRK4 and CD163 showed a notably high area under the curve values in both datasets and may serve as potential biomarkers for HCM.
SLITRK4 and CD163 may be promising Diagnostic Biomarkers of Hypertrophic Cardiomyopathy.
探讨肥厚型心肌病（HCM）的免疫细胞浸润特征及相关枢纽基因。
下载GSE130036数据集并鉴定差异表达基因（DEG）。通过CIBERSORT算法分析DEG，以了解HCM与正常心肌组织标本之间22种免疫细胞类型的组成。进行加权基因共表达网络分析（WGCNA），将DEG分为几个模块，并探讨关键模块与HCM患者心肌组织中富集的特定免疫细胞之间的相关性。探索模块间基因的生物功能和疾病富集情况，鉴定作为HCM潜在生物标志物的枢纽基因。通过GSE36961数据集验证这些基因，并通过受试者工作特征曲线分析评估其判别能力。
CIBERSORT分析显示，中性粒细胞和B细胞（幼稚和记忆B细胞）在HCM样本中高度丰富，而巨噬细胞（M0、M1、M2）在正常样本中高度丰富。对DEG进行WGCNA分析产生了7个模块，灰色和黄色模块分别与中性粒细胞和B细胞以及巨噬细胞密切相关。黄色模块基因主要在免疫和炎症过程中发挥作用。灰色模块基因主要在细胞间物质运输中发挥作用。SLITRK4和CD163在两个数据集中均显示出显著较高的曲线下面积值，可能作为HCM的潜在生物标志物。
SLITRK4和CD163可能是肥厚型心肌病有前景的诊断生物标志物。
