LINC01579-204 involved in the development of Hirschsprung's disease maybe by regulating the expression of miR-203a-3p and NEFL.

Background: Hirschsprung's disease (HD) is a rare congenital digestive tract malformation in children. Roles of long non-coding RNAs (lncRNAs) are highlighted in various human diseases. However, knowledge on lncRNAs in HD is still limited.

Methods: The profile of lncRNAs in 8 pairs of normal and stenosed intestinal tissue of HD patients were obtained using microarray analysis. Base on bioinformatics analysis, the level of selected LINC01579-204, NEFL and miR-203a-3p was detected by qRT-PCR in 36 pairs of normal and stenosed intestinal tissue of HD patients. Then the predictive accuracy of LINC01579-204, miR-203a-3p and NEFL level to evaluate the progression of HD patients was analyzed with receiver operating characteristic curve (ROC).

Results: A total of 90 differentially expressed lncRNAs were detected in normal and stenosed intestinal tissue of HD patients (|fold change| ≥ 1.5, p < 0.05). The level of LINC01579-204 and NEFL decreased and miR-203a-3p increased significantly in 36 pairs of stenosed intestinal tissue of HD patients compared to the control. A notable positive correlation was identified between LINC01579-204 and NEFL (r = 0.9681, p < 0.0001). Areas under the ROC curve of the LINC01579-204, miR-203a-3p and NEFL signature were 0.715, 0.777 and 0.829, respectively.

Conclusions: LINC01579-204, miR-203a-3p, and NEFL are predicted to play important roles in the progression of HD. LINC01579-204, miR-203a-3p and NEFL had a significant overall predictive ability to identify progression of HD patients. The novel experimental and bioinformatic results achieved in this study may provide new insights into the molecular of HD.