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Updated: Jun 20, 2026
Characterization of Vascular Morphology of Neovascular Age-Related Macular Degeneration by Indocyanine Green Angiography
Published on: August 11, 2023
Association of neovascular age-related macular degeneration with specific gene expression patterns in peripheral
Michal Lederman1, Avraham Weiss, Itay Chowers
1Department of Ophthalmology, Hadassah-Hebrew University Medical Center and The Hebrew University School of Medicine, Jerusalem, Israel.
Purpose:
Inflammation probably plays a major role in the pathogenesis of age-related macular degeneration (AMD). The authors evaluated whether AMD is associated with gene expression patterns in white blood cells (WBCs) and whether such a pattern may serve as a biomarker for the disease.
Methods:
Microarray analysis of gene expression in peripheral WBCs was performed on patients with neovascular AMD (NVAMD; n = 16) and controls (n = 16). Results were validated using quantitative real-time RT-PCR (QPCR) on another set of patients (n = 14) and controls (n = 16), respectively. QPCR findings were evaluated using receiver operator characteristic (ROC) curves and correlated with genotyping for the major risk single nucleotide polymorphisms (SNPs) for AMD in the genes for complement factor H and LOC387715.
Results:
NVAMD-associated expression was identified for eight sequences (false discovery rate [FDR] = 0%) and 167 sequences (FDR = 10%), respectively. There was an enrichment of genes involved in antigen presentation among the AMD-associated genes (P = 0.0029). QPCR confirmed increased expression (1.6- to 4.3-fold) of four genes (HSPA8, IGHG1, ANXA5, VKORC1) in association with NVAMD (P = 0.02-0.0002). Area under the curve for these genes according to ROC analysis ranged from 0.776 to 0.815. Gene expression was not associated with genotyping for risk SNPs or WBC counts.
Conclusions:
NVAMD is associated with altered gene expression in peripheral WBCs that is not underlined by the major risk SNPs for the disease. Such altered expression may potentially serve as a biomarker for the disease. These data support the involvement of systemic immune response in the pathogenesis of AMD.
Insights
Age-related macular degeneration (AMD) is linked to altered gene expression in white blood cells (WBCs). This gene expression pattern may serve as a potential biomarker for diagnosing AMD.
Area of Science:
- Ophthalmology
- Immunology
- Genetics
Background:
- Inflammation is a key factor in age-related macular degeneration (AMD) pathogenesis.
- Investigating gene expression in white blood cells (WBCs) may reveal disease biomarkers.
Purpose of the Study:
- To determine if AMD is associated with specific gene expression patterns in WBCs.
- To assess the potential of these patterns as diagnostic biomarkers for AMD.
Main Methods:
- Gene expression profiling using microarray analysis in WBCs from patients with neovascular AMD (NVAMD) and controls.
- Validation of findings using quantitative real-time RT-PCR (QPCR).
- Correlation of gene expression with AMD risk single nucleotide polymorphisms (SNPs).
Main Results:
- Significant differences in gene expression were observed in WBCs of NVAMD patients compared to controls.
- Four genes (HSPA8, IGHG1, ANXA5, VKORC1) showed increased expression in NVAMD.
- Receiver operator characteristic (ROC) analysis indicated potential biomarker utility (AUC 0.776-0.815).
Conclusions:
- Altered gene expression in peripheral WBCs is associated with NVAMD.
- This altered expression is independent of major AMD risk SNPs.
- These findings suggest a role for systemic immune responses in AMD and highlight potential biomarkers.
