Circulating biomarker profile and its diagnostic predictive utility in age-related macular degeneration.

PURPOSE: We evaluated the serum expression profiles of proteins encoded by AMD-related genes in age-related macular degeneration patients and controls.

METHODS

In our case-control study, we employed Enzyme-linked immunosorbent assay (ELISA) to analyze the expression of Collagen type X alpha 1 chain (COL10A1), Transforming growth factor-beta receptor type 1(TGFβR1) and Tumor Necrosis Factor Receptor Superfamily (TNFRSF10A) in serum. We have also statistically analyzed the correlations among the biomarkers and further assessed their diagnostic potential using the least absolute shrinkage and selection operator (LASSO) regression.

RESULTS

Out of three evaluated serum protein levels, two were found to be significantly associated with AMD. The expression of COL10A1 was significantly upregulated (p < 0.0001), and TNFRSF10A was significantly downregulated (p < 0.0001) in AMD patients compared to controls. The LASSO logistic regression revealed that serum expression of COL10A1 and TNFRSF10A proteins can reliably differentiate AMD cases from controls with predictive accuracy of 87.3%.

CONCLUSION

Our findings indicate that serum levels of COL10A1 and TNFRSF10A are significantly altered in AMD patients compared to controls. LASSO regression analyses further revealed that these proteins together have a strong ability to differentiate between AMD cases and controls, suggesting their potential as reliable biomarkers for risk prediction of AMD.