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

CIRCULAR RNA; GENETIC regulation; GENE expression; BIOMARKERS; BETA-Thalassemia

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. What is known: • CircRNAs are known to be involved in various human diseases, and several circRNAs are regarded as a class of promising blood-based biomarkers for detection of β-thal. • CircRNAs exert biological functions by epigenetic modification and gene expression regulation, and dysregulated circRNAs in β-thal might be involved in the induction of HbF in β-thal. What is new: • Peripheral blood circ-0008102 maybe serve as a novel clinical biomarker for detection of pediatric β-thal without blood transfusion. • Circ-0008102 participates in the pathogenesis of β-thal through regulating γ-globin expression, and negatively regulates the expression of miR-372-3p, miR-329-5p, miR-198, miR-152-5p and miR-627-3p. [ABSTRACT FROM AUTHOR]

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