PDF(Pubmed)
Abstract：
Behçet\'s disease (BD) is a complex autoimmune disorder impacting several organ systems. Although the involvement of abdominal aortic aneurysm (AAA) in BD is rare, it can be associated with severe consequences. In the present study, we identified diagnostic biomarkers in patients with BD having AAA. Mendelian randomization (MR) analysis was initially used to explore the potential causal association between BD and AAA. The Limma package, WGCNA, PPI and machine learning algorithms were employed to identify potential diagnostic genes. A receiver operating characteristic curve (ROC) for the nomogram was constructed to ascertain the diagnostic value of AAA in patients with BD. Finally, immune cell infiltration analyses and single-sample gene set enrichment analysis (ssGSEA) were conducted. The MR analysis indicated a suggestive association between BD and the risk of AAA (odds ratio [OR]: 1.0384, 95% confidence interval [CI]: 1.0081-1.0696, p = 0.0126). Three hub genes (CD247, CD2 and CCR7) were identified using the integrated bioinformatics analyses, which were subsequently utilised to construct a nomogram (area under the curve [AUC]: 0.982, 95% CI: 0.944-1.000). Finally, the immune cell infiltration assay revealed that dysregulation immune cells were positively correlated with the three hub genes. Our MR analyses revealed a higher susceptibility of patients with BD to AAA. We used a systematic approach to identify three potential hub genes (CD247, CD2 and CCR7) and developed a nomogram to assist in the diagnosis of AAA among patients with BD. In addition, immune cell infiltration analysis indicated the dysregulation in immune cell proportions.
摘要：
Behçet病（BD）是一种影响多个器官系统的复杂自身免疫性疾病。虽然腹主动脉瘤（AAA）在BD的参与是罕见的，它可能会带来严重的后果。在本研究中,我们确定了BD合并AAA患者的诊断性生物标志物。最初使用孟德尔随机化（MR）分析来探索BD和AAA之间的潜在因果关系。Limma包裹,WGCNA,采用PPI和机器学习算法来识别潜在的诊断基因。建立列线图的受试者工作特征曲线（ROC），以确定BD患者AAA的诊断价值。最后,进行免疫细胞浸润分析和单样本基因集富集分析（ssGSEA）。MR分析表明BD与AAA风险之间存在暗示性关联（比值比[OR]：1.0384，95％置信区间[CI]：1.0081-1.0696，p=0.0126）。使用整合的生物信息学分析鉴定了三个hub基因（CD247，CD2和CCR7），随后用于构建列线图（曲线下面积[AUC]：0.982，95%CI：0.944-1.000）。最后,免疫细胞浸润实验显示，失调的免疫细胞与三个hub基因呈正相关。我们的MR分析显示，BD患者对AAA的易感性更高。我们使用了系统的方法来鉴定三个潜在的枢纽基因（CD247，CD2和CCR7），并开发了列线图来协助BD患者中AAA的诊断。此外,免疫细胞浸润分析表明免疫细胞比例失调。
