新疆地区人群非综合征型唇腭裂与外周血FOXN3-SIN3A复合物表达量相关性研究

Correlation between FOXN3-SIN3A complex expression in peripheral blood and non-syndromic cleft lip and palate in Xinjiang

摘要

目的 研究FOXN3-SIN3A复合物表达量与新疆地区人群非综合征型唇腭裂（NSOC）的相关性。 方法 本研究选取就诊于新疆维吾尔自治区人民医院的NSOC患者60例为病例组，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。采用高通量二代测序技术及定量逆转录聚合酶链反应（RT-qPCR）检测各组外周血中FOXN3、SIN3A和NEAT1的表达量，分析受试者工作特征（ROC）曲线和曲线下面积（AUC），采用卡方检验对NSOC和对照组FOXN3、SIN3A和NEAT1的表达量进行比较。 结果 NSCL/P组和CPO组患者FOXN3、SIN3A、NEAT1基因表达较对照组均上升，差异均有统计学意义（P<0.05）。NSCL/P组FOXN3、SIN3A、NEAT1的基因序列AUC分别为0.933［95%CI=（0.864，1.000）］、0.822［95%CI=（0.713，0.932）］、1.000［95%CI=（1.000，1.000）］；CPO组FOXN3、SIN3A、NEAT1的基因序列AUC分别为0.891［95%CI=（0.806，0.976）］、0.688［95%CI=（0.552，0.824）］、1.000［95%CI=（1.000，1.000）］。 结论 外周血FOXN3、SIN3A、NEAT1基因表达上升与新疆地区NSOC的发生存在相关性，可以对将来进一步研究FOXN3-SIN3A复合物作为生物标记物，从而对NSOC的早期筛查、患病预测和早期预防提供理论依据。

Abstract

Objective 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. Conclusion 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.

关键词

非综合征型唇腭裂 / FOXN3 / SIN3A / NEAT1 / 生物标记物

Key words

non-syndromic cleft lip and palate / FOXN3 / SIN3A / NEAT1 / biomarker

Author summay

多力昆·吾甫尔，教授，硕士，E-mail：[e-mail]