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Circulating miRNAs and their functional genetic variants in pseudoexfoliative glaucoma: potential of miR-146a-5p as a
Birsen Can Demirdöğen1, Tuğba Öztürk Başer2, Mehmet Talay Köylü3
1Department of Biomedical Engineering, TOBB University of Economics and Technology, 06560, Söğütözü, Ankara, Turkey. bcandemirdogen@etu.edu.tr.
Purpose:
The etiology and pathogenesis of pseudoexfoliation syndrome (PEX) and its advancement into pseudoexfoliative glaucoma (PEG) are not fully understood. In this study, we aimed to evaluate the possible role played by two circulating microRNAs (miR-146a-5p and miR-196a-5p) in plasma and their functional genetic variants MIR146A rs2910164 and MIR196A2 rs11614913 in susceptibility to PEG or PEX.
Methods:
Plasma miRNA relative expression of 27 patients with PEG, 25 patients with PEX and 27 controls was determined using quantitative RT-PCR, and fold change was calculated using the 2-ΔΔCt method. Genotyping of 300 patients with PEG, 300 patients with PEX, and 300 controls was performed using a PCR-restriction fragment length polymorphism analysis.
Result:
Plasma miR-146a-5p relative expression was significantly elevated in patients with PEG (3.9-fold) (P < .000) and patients with PEX (2.7-fold) relative to controls (P = .001). The diagnostic ability of plasma miR-146a-5p expression fold change was good for discriminating PEG vs. controls (AUC = 0.897, P < .000), and the optimal decision threshold was 1.83 (sensitivity = 74%, specificity = 93%). Plasma miR-196a-5p relative expression did not differ significantly between study groups. No significant difference in terms of the minor allele frequency or the distribution of genotypes for MIR146A rs2910164 G/C or MIR196A2 rs11614913 C/T was observed between study groups.
Conclusions:
Circulating miR-146a-5p can contribute to the risk of PEX/PEG. Therefore, we propose that plasma miR-146a-5p can be developed as a potential biomarker for the minimally invasive diagnoses of PEX/PEG and as a potential therapeutic target with further studies.
Insights
Elevated miR-146a-5p in plasma indicates a higher risk for pseudoexfoliation syndrome (PEX) and pseudoexfoliative glaucoma (PEG). This microRNA shows potential as a biomarker for diagnosing PEX/PEG.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Pseudoexfoliation syndrome (PEX) and pseudoexfoliative glaucoma (PEG) pathogenesis remain unclear.
- Investigating the role of circulating microRNAs and their genetic variants in PEX/PEG susceptibility is crucial.
Purpose of the Study:
- To evaluate the role of plasma miR-146a-5p and miR-196a-5p.
- To assess the impact of MIR146A rs2910164 and MIR196A2 rs11614913 genetic variants.
- To determine their association with susceptibility to PEG and PEX.
Main Methods:
- Quantitative RT-PCR was used to measure plasma miRNA relative expression in 27 PEG patients, 25 PEX patients, and 27 controls.
- PCR-restriction fragment length polymorphism analysis was performed for genotyping of 300 PEG patients, 300 PEX patients, and 300 controls.
- Fold change was calculated using the 2-ΔΔCt method.
Main Results:
- Plasma miR-146a-5p was significantly elevated in PEG (3.9-fold) and PEX (2.7-fold) patients compared to controls.
- Plasma miR-146a-5p demonstrated good diagnostic ability for PEG vs. controls (AUC=0.897).
- No significant differences were found for miR-196a-5p expression or the studied genetic variants.
Conclusions:
- Circulating miR-146a-5p may contribute to the risk of PEX/PEG.
- Plasma miR-146a-5p is a potential biomarker for minimally invasive diagnosis of PEX/PEG.
- miR-146a-5p presents a potential therapeutic target for PEX/PEG.
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