Peripheral blood circular RNA circ-0008102 may serve as a novel clinical biomarker in beta-thalassemia patients

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Abstract

Circular RNA circ-0008102 has previously been found dysregulated in β-thalassemia (β-thal) in circRNAs microarray (GSE196682 and GSE241141). Our study is aimed at identifying whether circ-0008102 could be a novel biomarker in β-thal. The peripheral blood of pediatric β-thal patients with (n = 39) or without (n = 20) blood transfusion and healthy controls (n = 30) was selected. qRT-PCR, ROC curve analysis, Spearman correlation analysis, and FISH were used to analyze clinical value of circ-0008102. qRT-PCR confirmed that circ-0008102 expression in pediatric β-thal patients without blood transfusion was significantly higher. ROC curves analysis showed that the AUC of circ-0008102 for differentiating patients without blood transfusion from patients with blood transfusion and healthy controls with an AUC of 0.733 and 0.711. Furthermore, circ-0008102 expression was positively correlated with the levels of RBC, HbF, β-globin, and γ-globin mRNA, but was negatively corrected with the levels of HbA and Cr. circ-0008102 was mainly located in the cytoplasm. circ-0008102 could induce the activation of γ-globin and negatively regulate the expression of the five highest-ranking candidate miRNAs (miR-372-3p, miR-329-5p, miR-198, miR-152-5p, and miR-627-3p) in K562 cells. Conclusion: We demonstrate that peripheral blood upregulated circ-0008102 may serve as a novel clinical biomarker for pediatric β-thal without blood transfusion. (Table presented.)

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Chen, M., Lv, A., Zhang, S., Zheng, J., Lin, N., Xu, L., & Huang, H. (2024). Peripheral blood circular RNA circ-0008102 may serve as a novel clinical biomarker in beta-thalassemia patients. European Journal of Pediatrics, 183(3), 1367–1379. https://doi.org/10.1007/s00431-023-05398-y

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