Background Haemorrhoids occur commonly and frequently in the human digestive system. There are diverse causes of haemorrhoids and their in-depth pathogenesis is still currently unclear. Methods In this study, we explored haemorrhoids from an epigenetics perspective by employing RNA-Seq for comprehensive and in-depth analysis of the differences in microRNA (miRNA) transcripts between haemorrhoidal tissue and normal tissue in 48 patients with Grade II and above haemorrhoids. Results The results showed that 9 miRNAs were significantly upregulated (ratio > 3.5 and P -value < 0.01) and 16 miRNAs were significantly downregulated (ratio > 0.6 and P -value < 0.01) in haemorrhoid tissue. Subsequently, target gene prediction results showed that there were 184 potential target genes of significantly upregulated miRNAs (common to both TargetScan7.1 and MirdbV5 databases) and there were 372 potential target genes of significantly downregulated miRNAs. Gene ontology analysis results showed that the target genes of differentially expressed miRNAs in haemorrhoids are involved in regulating “cell composition” and “protein binding”. Lastly, KEGG search found that the differentially expressed miRNAs that are associated with the occurrence of haemorrhoids mainly regulate the activity of endocytosis and the synaptic vesicle cycle. Conclusions In summary, the results of high-throughput RNA-Seq screening suggested that the occurrence of haemorrhoids may be intimately associated with aberrant miRNA transcription, resulting in aberrant target gene expression and an imbalance in certain signal transduction pathways.

中文翻译：

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microRNA的异常表达是痔疮的潜在关键因素


背景 痔疮常见且频繁地发生在人体消化系统中。痔疮的病因多种多样，其深层发病机制目前尚不清楚。方法本研究从表观遗传学的角度探讨痔疮，采用RNA-Seq对48例II级及以上痔疮患者的痔疮组织与正常组织的microRNA（miRNA）转录本差异进行全面、深入的分析。结果 结果显示，痔疮组织中有 9 个 miRNA 显着上调（比率 > 3.5，P 值 < 0.01），16 个 miRNA 显着下调（比率 > 0.6，P 值 < 0.01）。随后，靶基因预测结果显示，显着上调miRNA的潜在靶基因有184个（TargetScan7.1和M​​irdbV5数据库共有），显着下调miRNA的潜在靶基因有372个。基因本体分析结果表明，痔疮中差异表达的miRNA的靶基因参与调节“细胞组成”和“蛋白质结合”。最后，KEGG搜索发现与痔疮发生相关的差异表达的miRNA主要调节内吞作用和突触小泡周期的活性。结论 综上所述，高通量RNA-Seq筛选结果提示，痔疮的发生可能与miRNA转录异常，导致靶基因表达异常以及某些信号转导通路失衡密切相关。