Molecular Function Predictions and Diagnostic Value Analysis of Plasma Exosomal miRNAs in Hirschsprung’s Disease

Abstract

Aim: To discover the potential roles of plasma exosomal miRNAs in Hirschsprung’s disease (HSCR) and identify potential noninvasive biomarkers for early diagnosis of HSCR. Materials & methods: Plasma samples were collected from HSCR patients and matched controls. Exosomes were isolated before high-throughput Illumina sequencing was utilized to gain a profile of dysregulated exosomal miRNAs, followed with further verification in two separate cohorts. Bioinformatics analyses were also adopted to explore the molecular functions of dysregulated miRNAs in Hirschsprung’s disease. Results & conclusion: 31 dysregulated miRNAs were identified with five considered as promising HSCR signatures. Gene enrichment analysis disclosed that the upregulated miRNAs were most likely to participate in ‘extracellular matrix–receptor interaction’ and contribute to HSCR through interfering in cell junctions.

Keywords: :

• biomarker
• ECM
• gene enrichment
• Hirschsprung’s disease
• KEGG
• miRNA
• plasma exosomes

Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.tandfonline.com/doi/suppl/10.2217/epi-2019-0190

Financial & competing interests disclosure

This work was supported by grants from the Natural Science Foundation of China (NSFC 81701493, NSFC 81700449, NSFC 81570467). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that they have obtained appropriate institutional review board approval or have followed the principles outlined in the Declaration of Helsinki for all human or animal experimental investigations. In addition, for investigations involving human subjects, informed consent has been obtained from the participants involved.

Additional information

Funding

This work was supported by grants from the Natural Science Foundation of China (NSFC 81701493, NSFC 81700449, NSFC81570467). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financialinterest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.