关键词: β-地中海贫血, miR-124-3p, ERF, 生物标志物

Abstract: Objective To investigate the differential expression of miR-124-3p in peripheral blood and clinical significance of patients with β-thalassemia. Methods Peripheral blood samples were collected from 33 patients with β-thalassemia and 30 healthy controls in Ningde Municipal Hospital Affiliated to Ningde Normal University from June 2021 to August 2022. The expression level of miR-124-3p was detected. Luciferase reporter gene was used to verify the interaction between miR-124-3p and ERF 3'UTR. The correlation between differential expression of miR-124-3p and β-thalassemia was analyzed and the clinical diagnostic value of miR-124-3p for β-thalassemia was evaluated. Results Compared with healthy control individuals, the expression of miR-124-3p was significantly up-regulated in patients with β-thalassemia (P＜0.001). The genotype of miR-124-3p high expression group was 84.2% β0 (16/19),the genotype of low expression group was 55.6% β+ (10/18). ROC curve analysis showed that miR-124-3p had predictive efficacy for β-thalassemia (AUC:0.842). Luciferase reporter gene analysis showed that ERF gene was the regulatory target of miR-124-3p. Conclusions The differential expression of miR-124-3p in patients with β-thalassemia is closely related to the genotype and clinical severity of thalassemia, and ERF is negatively regulated by miR-124-3p. miR-124-3p may be an effective diagnostic biomarker for β-thalassemia.

Key words: β-thalassemia, miR-124-3p, ERF, biomarker