Abstract
Age-related macular degeneration (AMD) is a progressive neurodegenerative disease of the central retina, with no suitable biomarkers for early diagnosis and treatment. This study aimed to find potential diagnostic biomarker candidates for AMD and investigate their immune-related roles in this pathology. Weight gene correlation analysis was first performed based on data from the Gene Expression Omnibus database and 20 hub genes were identified. The functional enrichment analyses showed that the innate immune response, inflammatory response, and complement activation were key pathways associated with AMD. Complement C1s (C1S), adrenomedullin (ADM), and immediate early response 5 like (IER5L) were identified as the crucial genes with favorable diagnostic values for AMD by using LASSO analysis and multiple logistic regression. Furthermore, a 3-gene model was constructed and proved to be of good diagnostic and predictive performance for AMD (AUC = 0.785, 0.840, and 0.810 in training, test, and validation set, respectively). Finally, CIBERSORT was used to evaluate the infiltration of immune cells in AMD tissues. The results showed that the NK cells, CD4 memory T cell activation, and macrophage polarization may be involved in the AMD process. C1S, ADM, and IER5L were correlated with the infiltration of the above immune cells. In conclusion, our study suggests that C1S, ADM, and IER5L are promising diagnostic biomarker candidates for AMD and may regulate the infiltration of immune cells in the occurrence and progression of AMD.
Highlights
Age-related macular degeneration (AMD) is a progressive retinal disease and a leading cause of irreversible vision loss in older adults worldwide [1]
These results indicated that aberrant immune infiltration heterogememory were detected in neity in AMD as a tightly regulated process might have important clinical meanings
The results of our study showed that immediate early response 5 like (IER5L) is significantly lower expressed in the AMD retina than in normal controls and exhibits a good diagnostic value for AMD
Summary
Age-related macular degeneration (AMD) is a progressive retinal disease and a leading cause of irreversible vision loss in older adults worldwide [1]. With aging populations in many countries, the prevalence of AMD has risen markedly in recent years [2]. According to the severity of fundus lesions, AMD is classified into early, intermediate, and late stages, including geographic atrophy (GA; or “late dry AMD”), choroidal neovascularization (CNV; or “wet AMD”), or both [4]. Because the early diagnosis is still a challenge, the disease progress, for most patients, results in a poor prognosis [5]. The mechanisms of AMD pathogenesis are poorly defined, making early detection and accurate treatment more difficult [6]. It is urgent to explore novel diagnostic biomarkers to further develop therapeutic approaches for AMD patients
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