Department of Anorectal Surgery, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, 528 Zhangheng Road, Shanghai, 201203, P.R. China.
Department of Otolaryngology, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China.
Hereditas. 2020 Jul 3;157(1):25. doi: 10.1186/s41065-020-00139-9.
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.
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.
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.
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.
痔疮在人类消化系统中很常见且多发。痔疮有多种病因,其深入的发病机制目前仍不清楚。
在这项研究中,我们从表观遗传学的角度探讨了痔疮,采用 RNA-Seq 对 48 例 II 度及以上痔疮患者的痔组织和正常组织中的 microRNA(miRNA)转录本进行全面和深入的差异分析。
结果表明,9 个 miRNA 明显上调(比值>3.5,P 值<0.01),16 个 miRNA 明显下调(比值>0.6,P 值<0.01)。随后,靶基因预测结果表明,有 184 个显著上调 miRNA 的潜在靶基因(同时存在于 TargetScan7.1 和 MirdbV5 数据库中)和 372 个显著下调 miRNA 的潜在靶基因。GO 分析结果表明,痔组织中差异表达 miRNA 的靶基因参与调节“细胞组成”和“蛋白结合”。最后,KEGG 搜索发现,与痔疮发生相关的差异表达 miRNA 主要调节内吞作用和突触小泡循环的活性。
综上所述,高通量 RNA-Seq 筛选结果表明,痔疮的发生可能与异常的 miRNA 转录密切相关,导致异常的靶基因表达和某些信号转导通路失衡。