Department of Ophthalmology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, Xinjiang, China.
Jiangmen Central Hospital, Jiangmen 529000, Guangdong, China.
J Healthc Eng. 2022 Feb 10;2022:3787567. doi: 10.1155/2022/3787567. eCollection 2022.
Age-related macular degeneration (AMD) is a chronic and progressive macular degeneration disease, which can also lead to serious visual loss. In our research, we aim to efficiently identify biomarkers relevant for AMD diagnosis. We collected the gene expression data of retinal segmented epithelium (RPE) and retina tissues of GSE29801 and GSE135092 and performed differential expression analysis. The differentially expressed genes (DEGs) related to the RPE and retina in the two sets of data were identified and enriched by intersection analysis. A PPI network was constructed for intersection genes, and the top 20 genes with the largest connectivity in the network were selected as candidate genes. The LASSO model was used to identify key genes from candidate genes, and the nomogram and ROC curve were used to evaluate the diagnostic ability of key genes. We identified 464 intersection genes associated with RPE and 509 intersection genes associated with retina. The TGF-beta signaling pathway was enriched by RPE-related DEGs, while oxidative phosphorylation was enriched by retina-related DEGs. Among the candidate genes of RPE, the LASSO model identified 7 key genes. MAPK1 and LUM can predict the clinical diagnosis of AMD. Among the candidate genes of retina, the LASSO model identified four key genes. PTPN11 has the highest predictive diagnostic value. The results suggest that the imbalance mechanism of RPE in AMD may be related to the TGF-beta signaling pathway, and the imbalance mechanism of the retina may be related to oxidative phosphorylation. MAPK1 and LUM are potential diagnostic markers of RPE, and PTPN11 is a potential diagnostic marker of the retina. Also, our results provide a theoretical basis for better understanding the molecular mechanisms of AMD onset and treatment in the future.
年龄相关性黄斑变性（AMD）是一种慢性进行性黄斑变性疾病，也可导致严重的视力丧失。在我们的研究中，我们旨在有效地鉴定与 AMD 诊断相关的生物标志物。我们收集了 GSE29801 和 GSE135092 中视网膜分段上皮（RPE）和视网膜组织的基因表达数据，并进行了差异表达分析。通过交集分析鉴定了两组数据中与 RPE 和视网膜相关的差异表达基因（DEGs），并对其进行了富集分析。构建了一个 PPI 网络，用于分析网络中连接性最大的前 20 个基因作为候选基因。使用 LASSO 模型从候选基因中识别关键基因，并使用列线图和 ROC 曲线评估关键基因的诊断能力。我们鉴定了 464 个与 RPE 相关的交集基因和 509 个与视网膜相关的交集基因。RPE 相关 DEGs 富集了 TGF-β信号通路，而视网膜相关 DEGs 富集了氧化磷酸化。在 RPE 的候选基因中，LASSO 模型鉴定了 7 个关键基因。MAPK1 和 LUM 可以预测 AMD 的临床诊断。在视网膜的候选基因中，LASSO 模型鉴定了 4 个关键基因。PTPN11 具有最高的预测诊断价值。结果表明，AMD 中 RPE 的失衡机制可能与 TGF-β信号通路有关，而视网膜的失衡机制可能与氧化磷酸化有关。MAPK1 和 LUM 是 RPE 的潜在诊断标志物，而 PTPN11 是视网膜的潜在诊断标志物。此外，我们的研究结果为未来更好地理解 AMD 发病和治疗的分子机制提供了理论依据。
