Screening of differentially expressed genes in hirschsprung disease based on rna-seq technology

Qian Jiang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Long Li

Research output: Contribution to journalArticlepeer-review


AIM To screen the differentially expressed genes (DEGs) in aganglionic and ganglionated colon tissues of hirschsprung disease (HSCR) patients. METHODS RNA was extracted from paired-colon samples (formalin-fixed, paraffin-embedded sections) of three HSCR patients (two affected by total colonic aganglionosis and one by long-segment HSCR) and purified. Ribosomal RNA was eliminated before generating the cDNA library. After RNA-sequencing, the gene ontology (GO) analysis was performed to uncover the biological functions of DEGs. The kyoto encyclopedia of genes and genomes (KEGG) pathway enrichment analysis was applied to find out the related RESULTS There were a total of 1382 significantly commom DEGs in the three paired samples, including 899 consistently up-regulated DEGs and 483 consistently down-regulated DEGs. The 1382 DEGs were categorized into 383 functional categories by GO analysis. The KEGG pathway analysis suggested 25 significant signal pathways, including bile secretion, protein digestion and absorption, fat digestion and absorption, retinol metabolism, steroid hormone biosynthesis, and starch and sucrose metabolism. CONCLUSION In the current study, the DEGs of aganglionic and ganglionated colon tissues were thoroughly analyzed for the first time, which will shed new light on the pathogenesis of HSCR.

Original languageEnglish (US)
Pages (from-to)2200-2208
Number of pages9
JournalWorld Chinese Journal of Digestology
Issue number24
StatePublished - 2017
Externally publishedYes


  • Differentially expressed genes
  • Formalin-fixed paraffin-embedded
  • Hirschsprung disease
  • RNA sequencing

ASJC Scopus subject areas

  • Gastroenterology


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