Identification of deregulated circular RNA circ-0008102 as novel biomarker in pediatric β-thalassemia patients

Abstract

Abstract Circular RNA circ-0008102 has previously been found upregulated in β-thalassemia (β-thal) in circRNAs microarray. Our study aimed to identify whether circ-0008102 could be a novel biomarker in β-thal. qRT-PCR confirmed that the expression levels of circ-0008102 in pediatric β-thal patients with HbF ≥ 5.0% (n = 26) were significantly higher than that in pediatric β-thal patients with HbF < 5.0% (n = 33) and healthy controls (n = 30). ROC curves analysis showed that the AUC of circ-0008102 for differentiating patients with HbF ≥ 5.0% from patients with HbF < 5.0% and healthy controls with an AUC of 0.774 and 0.702, respectively. Furthermore, circ-0008102 expression was positively correlated with the levels of HbF, GGT, β-globin and γ-globin mRNA, but was negatively corrected with the levels of MCV, MCH, HbA and Cr. circ-0008102 was mainly located in the cytoplasm, and its five highest-ranking candidates miRNAs were miR-372-3p, miR-329-5p, miR-198, miR-152-5p and miR-627-3p. 651 mRNAs regulated by these miRNAs were found based on bioinformatics analysis, and enrichment analysis of circ-0008102/miRNAs/mRNAs network showed these mRNAs were involved in DNA binding and transcription regulatory region binding, and were associated with Th17 cell differentiation and stem cell pluripotency signaling pathways. In conclusion, we preliminary proved that peripheral blood deregulated circ-0008102 might be an effective biomarker for detection of pediatric β-thal with high HbF. circ-0008102 participates in the pathogenesis of β-thal through regulating γ-globin expression, which needs to be investigated further.