新疆外周血中 FOXN3-SIN3A 复合物表达与非综合征唇腭裂的相关性。

Duolikun Wufuer, Dilibaier Yimingjiang, Kamilijiang Maimaitiming, Jun Li, Wulifan Tuoleheng
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引用次数: 0

摘要

研究目的本研究旨在探讨FOXN3-SIN3A复合体表达与新疆非综合征性口腔裂隙(NSOC)的相关性:方法:本研究选取在新疆维吾尔自治区人民医院就诊的60例NSOC患者为病例组,其中唇裂伴或不伴腭裂(NSCL/P)30例,单纯腭裂(CPO)30例,对照组为30例健康儿童。通过高通量二代测序技术和定量反转录聚合酶链反应(RT-qPCR)检测各组外周血中 FOXN3、SIN3A 和 NEAT1 的表达水平。采用接收者操作特征曲线(ROC)和曲线下面积(AUC)分析NSOC的诊断效率:结果:NSOC组与对照组的比较显示,FOXN3、SIN3A和NEAT1基因比对照组增高。结果:与对照组相比,NSOC 组的 FOXN3、SIN3A 和 NEAT1 基因均有所增加,差异均有统计学意义(PConclusions:结果表明,外周血中 FOXN3、SIN3A 和 NEAT1 基因表达的升高与新疆 NSOC 的发生存在相关性。这项工作为进一步研究 FOXN3-SIN3A 复合物作为生物标志物,促进 NSOC 的早期筛查、疾病预测和早期预防提供了理论依据。
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Correlation between FOXN3-SIN3A complex expression in peripheral blood and non-syndromic cleft lip and palate in Xinjiang.

Objectives: This work aimed to study the correlation between FOXN3-SIN3A complex expression and non-syndromic oral clefts (NSOC) in Xinjiang.

Methods: In this study, 60 patients with NSOC attending the People's Hospital of Xinjiang Uygur Autonomous Region were recruited into the case group, including 30 cleft lip with or without cleft palate (NSCL/P), 30 cleft palate only (CPO), and 30 healthy children in the control group. The expression levels of FOXN3, SIN3A, and NEAT1 in peripheral blood of each group were detected by high-throughput second-generation sequencing technology and quantitative reverse transcription polymerase chain reaction (RT-qPCR). Receiver operating characteristic (ROC) curve and area under the curve (AUC) were used to analyze the diagnostic efficiency of NSOC.

Results: The comparison of the NSOC and control groups showed that FOXN3, SIN3A, and NEAT1 genes increased compared with the control group. The differences were all statistically significant (P<0.05). The AUCs of FOXN3, SIN3A, and NEAT1 in the NSCL/P group were 0.933 [95%CI=(0.864, 1.000)], 0.822 [(95%CI=(0.713, 0.932)], and 1.000[95%CI= (1.000, 1.000)], respectively. The AUCs of FOX-N3, SIN3A, and NEAT1 in the CPO group were 0.891 [95%CI=(0.806, 0.976)], 0.688 [95%CI=(0.552, 0.824)], and 1.000 [95%CI=(1.000, 1.000)], respectively.

Conclusions: The results showed a correlation between the rising gene expression of FOXN3, SIN3A, and NEAT1 in peripheral blood and the occurrence of NSOC in Xinjiang. This work provides a theoretical basis for further study of the FOXN3-SIN3A complex as biomarkers to facilitate the early screening, disease prediction, and early prevention of NSOC.

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