Aim: To explore the association between miR-938rs2505901 T>C polymorphism and Hirschsprung disease (HSCR) risk in Chinese children. Materials & Methods: We conducted a case-control study in a Chinese population with 1381 cases and 1457 controls. The associated correlation strengths were assessed by adjusted odds ratios (AORs) and 95% CIs. Results: The results revealed that the rs2505901 TC and rs2505901 TC/CC genotype were related to an increased HSCR risk compared to the risk contributed by the rs2505901 TT genotype. A stratification analysis showed that the rs2505901 TC/CC genotype promoted the progression of HSCR more significantly in patients with the short-segment HSCR subtype. Conclusion: Our study indicated that miR-938rs2505901 T>C polymorphism is significantly associated with HSCR risk in Chinese children. This result needs to be confirmed with well-designed studies.
Keywords: Chinese children; Hirschsprung disease; case–control study; correlation analysis; genotype; miR-938; polymorphism; rs2505901; susceptibility; treatment and prognosis.
Lay abstract Hirschsprung disease (HSCR) is the most common intestinal disorder in infants. Genetic defects play important roles in the occurrence and development of HSCR. This case–control study was performed by collecting data from 1381 cases and 1457 controls to evaluate the association between the miR-938rs2505901 T>C genetic defect and HSCR risk. The results showed that allele rs2505901 C may be a risk factor. The rs2505901 TC or rs2505901 TC/CC genotype was related to an increased HSCR risk compared to the risk contributed by the rs2505901 TT genotype. An expression quantitative trait locus (eQTL) analysis indicated that allele rs2505901 C is linked with high levels of miR-938. Our study may provide a target and a valuable reference for the clinical treatment, classification and prognosis of HSCR.