Jung Yong Wook, Shim Jung In, Shim So Hyun, Shin Yun-Jeong, Shim Sung Han, Chang Sung Woon, Cha Dong Hyun
Department of Obstetrics and Gynecology, CHA Gangnam Medical Center.
Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul.
Medicine (Baltimore). 2019 Jan;98(3):e13971. doi: 10.1097/MD.0000000000013971.
Preeclampsia (PE) is a disorder specific to pregnancy characterized by new-onset hypertension and proteinuria after 20 weeks of gestation. There is no definite treatment for PE except delivery of the placenta. The purpose of this study was to elucidate the biological pathways involved in the development of PE and to discover a novel biomarker for PE by performing global gene expression analysis of amniotic fluid cell-free RNA.The participants were recruited from the Department of Obstetrics and Gynecology of CHA Gangnam Medical Center (Seoul, Korea) between March 2014 and February 2015. Eight samples were collected from 8 subjects at second trimester who were later diagnosed with PE. From the amniotic fluid samples, cell-free RNA extraction was performed and gene expression was analyzed using the GeneChip PrimeView Array. Transcriptome data previously analyzed by our group from 9 euploid mid-trimester amniotic fluid samples were used as the control for comparative analysis. Functional analysis of the probe sets was performed using the online Database for Annotation, Visualization, and Integrated Discovery (DAVID) toolkit 6.7.We identified 1841 differentially expressed genes (DEGs) between the PE group and the control. Of these, 1557 genes were upregulated in the PE group, while 284 genes were upregulated in the control. The functional annotation of DEGs identified specific enriched functions such as "transport," "signal transduction," and "stress response." Functional annotation clustering with enriched genes in the PE group revealed that translation-related genes, cell-cell adhesion genes, and immune-related genes were enriched. KEGG pathway analysis showed that several biological pathways, including the ribosome pathway and various immune pathways, were dysregulated. Several genes, including RPS29, IGF-2, and UBC, were significantly upregulated in PE, up to tenfold.This study provides the first genome-wide expression analysis of amniotic fluid cell-free RNA in PE. The results showed that gene expression involving the ribosome pathway and immunologic pathways are dysregulated in PE. Our results will aid in understanding the underlying pathogenesis of PE.
子痫前期(PE)是一种妊娠特有的疾病,其特征为妊娠20周后新发高血压和蛋白尿。除了娩出胎盘外,尚无明确的PE治疗方法。本研究的目的是通过对羊水游离RNA进行全基因组表达分析,阐明参与PE发生发展的生物学途径,并发现一种新的PE生物标志物。
研究对象于2014年3月至2015年2月期间从CHA江南医学中心(韩国首尔)妇产科招募。在孕中期从8名后来被诊断为PE的受试者中采集了8份样本。从羊水样本中提取游离RNA,并使用基因芯片PrimeView Array分析基因表达。我们小组之前分析的来自9份整倍体孕中期羊水样本的转录组数据用作比较分析的对照。使用在线注释、可视化和综合发现数据库(DAVID)工具包6.7对探针集进行功能分析。
我们在PE组和对照组之间鉴定出1841个差异表达基因(DEG)。其中,1557个基因在PE组中上调,而284个基因在对照组中上调。DEG的功能注释确定了特定的富集功能,如“转运”、“信号转导”和“应激反应”。对PE组中富集基因进行功能注释聚类显示,与翻译相关的基因、细胞间粘附基因和免疫相关基因富集。KEGG通路分析表明,包括核糖体通路和各种免疫通路在内的几种生物学通路失调。包括RPS29、IGF-2和UBC在内的几个基因在PE中显著上调至十倍。
本研究首次对PE患者的羊水游离RNA进行了全基因组表达分析。结果表明,PE中涉及核糖体通路和免疫通路的基因表达失调。我们的结果将有助于理解PE的潜在发病机制。