miR-124-3p在β-地中海贫血中的差异表达及临床意义

Differential expression and clinical significance of miR-124-3p inβ-thalassemia

目的探讨β-地中海贫血患者外周血miR-124-3p的差异表达情况及临床意义。方法收集2021年6月至2022年8月在宁德师范学院附属宁德市医院就诊的33例β-地中海贫血患者和30名健康对照的外周血标本,检测miR-124-3p的表达水平;采用荧光素酶报告基因验证miR-124-3p和ERF 3′UTR相互作用;分析miR-124-3p差异表达与β-地中海贫血的相关性及对β-地中海贫血的临床诊断价值。结果与健康对照组相比,β-地中海贫血患者miR-124-3p表达显著上调(P<0.001)。miR-124-3p高表达组基因型84.2%为β0型(16/19),低表达组基因型55.6%为β+型(10/18)。ROC曲线分析显示miR-124-3p对β-地中海贫血具有良好的预测效能(AUC:0.842);荧光素酶报告基因分析显示ERF为miR-124-3p的调控靶点。结论miR-124-3p在β-地中海贫血患者中的差异表达和地中海贫血基因型及严重程度密切相关,同时ERF受到miR-124-3p的负调控。miR-124-3p可能是β-地中海贫血有效的诊断生物标志分子。

Objective To investigate the differential expression of miR-124-3p in peripheral blood and clinical significance of patients withβ-thalassemia.Methods Peripheral blood samples were collected from 33 patients withβ-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 andβ-thalassemia was analyzed and the clinical diagnostic value of miR-124-3p forβ-thalassemia was evaluated.Results Compared with healthy control individuals,the expression of miR-124-3p was significantly up-regulated in patients withβ-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 forβ-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 withβ-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 forβ-thalassemia.