Identification of global transcriptome abnormalities and potential biomarkers in eutopic endometria of women with endometriosis: A preliminary study.
Identification of global transcriptome abnormalities and potential biomarkers in eutopic endometria of women with endometriosis: A preliminary study.
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子宫内膜异位症女性在位子宫内膜整体转录组异常和潜在生物标志物的鉴定：初步研究
DOI：
10.3892/br.2017.902
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发表时间：
2017-06
影响因子：
2.3
通讯作者：
Meng Y
中科院分区：
文献类型：
--
作者：
Zhao L;Gu C;Ye M;Zhang Z;Han W;Fan W;Meng Y
子宫内膜异位症的病因和病理生理机制尚不清楚。本研究的目的是使用信使RNA（mRNA）测序（mRNA-seq）鉴定候选致病基因以及子宫内膜异位症的潜在生物标志物。研究了23例子宫内膜异位症患者的在位子宫内膜和20例对照组子宫内膜。选择8个在位的卵巢癌和5个正常卵巢癌进行mRNA-seq。鉴定差异表达基因（DEG）并进行功能分析。通过逆转录-定量聚合酶链反应（RT-qPCR）对其余病例和对照受试者的某些DEG进行了验证。共72 DEG（66上调和6下调），从子宫内膜异位症妇女的样本中确定，并与对照组进行比较。高DEG包括参与各种功能的DEG，例如细胞外基质（ECM）重塑、血管生成、细胞增殖和分化。通过这些DEG的丰富，100个基因本体论术语被确定为显著重要的，特别是“ECM”和“内源性刺激”。RT-qPCR验证结果显示，子宫内膜异位症患者在位内膜中基质金属肽酶11、双特异性磷酸酶1、Fos原癌基因和丝氨酸蛋白酶抑制剂家族E成员1表达显著上调，腺苷脱氨酶2表达显著下调。DEG可能参与了子宫内膜异位症的发病机制，并可能成为在位子宫内膜的潜在生物标志物。目前的研究为阐明子宫内膜异位症的机制提供了一个全面但初步的见解，这需要进一步深入的研究来证实。
The etiology and pathophysiology of endometriosis remain unclear. The aim of the current study was to identify a candidate pathogenic gene, as well as potential biomarkers of endometriosis using messenger RNA (mRNA) sequencing (mRNA-seq). Twenty-three eutopic endometria from women with endometriosis and 20 endometria from control subjects were investigated. Eight eutopic endometria and five normal endometria were selected for mRNA-seq. Differentially expressed genes (DEGs) were identified and functional analysis was conducted. Validation of certain DEGs was performed in the remaining cases and control subjects by reverse transcription-quantitative polymerase chain reaction (RT-qPCR). A total of 72 DEGs (66 upregulated and 6 downregulated) were identified in samples from women with endometriosis and compared with the control subjects. High DEGs included those involved in various functions, such as extracellular matrix (ECM) remodeling, angiogenesis, cell proliferation and differentiation. Enriched by these DEGs, 100 Gene Ontology terms were identified as significantly important, particularly ‘ECM’ and ‘endogenous stimulus’. Validation using RT-qPCR indicated that matrix metallopeptidase 11, dual specificity phosphatase 1, Fos proto-oncogeneand serpin family E member 1 were significantly upregulated and adenosine deaminase 2 was significantly downregulated in the eutopic endometrium of patients with endometriosis. The identified DEGs may be involved in the pathogenesis of endometriosis and may be potential biomarkers in the eutopic endometrium. The current study provides a comprehensive, but preliminary insight for elucidating the mechanisms of endometriosis, which require further in-depth studies for confirmation.