Genome-Wide Analysis of circular RNAs and validation of hsa_circ_0006719 as a potential novel diagnostic biomarker in congenital scoliosis patients
Genome-Wide Analysis of circular RNAs and validation of hsa_circ_0006719 as a potential novel diagnostic biomarker in congenital scoliosis patients
复制标题
环状 RNA 的全基因组分析以及 hsa_circ_0006719 作为先天性脊柱侧凸患者的潜在新型诊断生物标志物的验证
DOI：
10.1111/jcmm.15370
复制
发表时间：
2020
影响因子：
5.3
通讯作者：
Rong T.
中科院分区：
文献类型：
--
作者：
Liu G.;Shen J.;Chen C.;Jiao Y.;Li Z.;Tan H.;Lin Y.;Rong T.
先天性脊柱侧凸（CS）是一种形式的脊柱弯曲所造成的异常发育的椎骨。最近的研究表明，circRNA可以作为潜在的生物标志物的疾病诊断。最初检测了7名CS患者和3名健康对照的全基因组circRNA表达。通过生物信息学分析探讨CS的潜在病理机制。进行定量PCR（qPCR）以验证具有32名CS患者和30名健康对照的复制群组中所选择的circRNA。控制性别后进行Logistic回归分析，比较两组间的表达差异。采用受试者工作特征曲线（ROC曲线）分析其诊断价值。从全基因组circRNA测序中筛选出22个差异表达的circRNA。通过qPCR验证了七种circRNA。CS组中只有hsa_circ_0006719的表达水平高于健康对照组（P=0.036）。受试者工作特征曲线也提示hsa_circ_0006719对CS具有显著的诊断价值（AUC=0.739，P=0.001）。我们描述了CS中circRNA的首次研究，并验证了hsa_circ_0006719作为CS的潜在新型诊断生物标志物。
Congenital scoliosis (CS) is a form of spinal curvature resulting from anomalous development of vertebrae. Recent studies demonstrated that circRNAs could serve as potential biomarkers of disease diagnosis. Genome-wide circRNAs expression in seven CS patients and three healthy controls was initially detected. Bioinformatics analysis was conducted to explore the potential pathological pathway of CS. Quantitative PCR (qPCR) was performed to validate the selected circRNAs in the replication cohort with 32 CS patients and 30 healthy controls. Logistic regression controlling for gender was conducted to compare the expression difference. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the diagnostic value. Twenty-two differentially expressed circRNAs were filtered from genome-wide circRNA sequencing. Seven circRNAs were validated by qPCR. Only hsa_circ_0006719 was confirmed to have a higher expression level in the CS group than the healthy control group (P=0.036). Receiver operating characteristic curve also suggested that hsa_circ_0006719 had significant diagnostic value for CS (AUC=0.739, P=0.001). We described the first study of circRNAs in CS and validated hsa_circ_0006719 as a potential novel diagnostic biomarker of CS.