Chair and Department of Biology and Genetics, Medical University of Lublin, 4a Chodźki St., 20-093 Lublin, Poland.
Chair of Medical Genetics, Department of Clinical Genetics, Medical University of Lublin, 11 Radziwiłłowska St., 20-080 Lublin, Poland.
Int J Mol Sci. 2021 Mar 21;22(6):3200. doi: 10.3390/ijms22063200.
Several human tissues are investigated in studies of molecular biomarkers associated with diseases development. Special attention is focused on the blood and its components due to combining abundant information about systemic responses to pathological processes as well as high accessibility. In the current study, transcriptome profiles of peripheral blood mononuclear cells (PBMCs) were used to compare differentially expressed genes between patients with lower extremities arterial disease (LEAD), abdominal aortic aneurysm (AAA) and chronic venous disease (CVD). Gene expression patterns were generated using the Ion S5XL next-generation sequencing platform and were analyzed using DESeq2 and UVE-PLS methods implemented in R programming software. In direct pairwise analysis, 21, 58 and 10 differentially expressed genes were selected from the comparison of LEAD vs. AAA, LEAD vs. CVD and AAA vs. CVD patient groups, respectively. Relationships between expression of dysregulated genes and age, body mass index, creatinine levels, hypertension and medication were identified using Spearman rank correlation test and two-sided Mann-Whitney U test. The functional analysis, performed using DAVID website tool, provides potential implications of selected genes in pathological processes underlying diseases studied. Presented research provides new insight into differences of pathogenesis in LEAD, AAA and CVD, and selected genes could be considered as potential candidates for biomarkers useful in diagnosis and differentiation of studied diseases.
本研究比较了下肢动脉疾病（LEAD）、腹主动脉瘤（AAA）和慢性静脉疾病（CVD）患者外周血单个核细胞（PBMCs）的转录组谱，以寻找与疾病发展相关的分子生物标志物。由于能够综合反映系统对病理过程的反应以及高可达性的丰富信息，因此特别关注血液及其成分。使用 Ion S5XL 下一代测序平台生成基因表达模式，并使用 R 编程软件中实现的 DESeq2 和 UVE-PLS 方法进行分析。在直接两两比较中，分别从 LEAD 与 AAA、LEAD 与 CVD 和 AAA 与 CVD 患者组的比较中选择了 21、58 和 10 个差异表达基因。使用 Spearman 秩相关检验和双侧 Mann-Whitney U 检验鉴定了失调基因的表达与年龄、体重指数、肌酐水平、高血压和药物之间的关系。使用 DAVID 网站工具进行的功能分析提供了所选基因在研究疾病潜在病理过程中的潜在意义。本研究为 LEAD、AAA 和 CVD 的发病机制差异提供了新的见解，所选基因可被视为用于诊断和区分研究疾病的潜在生物标志物候选者。
