Association between miR-492 rs2289030 G>C and susceptibility to Hirschsprung disease in southern Chinese children

Abstract

Objective Hirschsprung disease (HSCR) originates from disruption of normal neural crest cell migration, differentiation, and proliferation during the fifth to eighth weeks of gestation. This results in the absence of intestinal ganglion cells in the distal intestinal tract. However, genetic variations affecting embryonic development of intestinal ganglion cells are unclear. Therefore, this study aimed to investigated the potential value of miR-492 rs2289030 G>C as a marker of susceptibility to HSCR Methods In this case–control study in southern Chinese children, we collected samples from 1473 controls and 1470 patients with HSCR. TaqMan genotyping of miR-492 rs2289030 G>C was performed by real-time fluorescent quantitative polymerase chain reaction. Results Multivariate logistic regression analysis showed that there was no significant association between the presence of the miR-492 rs2289030 G>C polymorphism and susceptibility to HSCR by evaluating the values of pooled odds ratios and 95% confidence intervals. Similarly, among different HSCR subtypes, rs2289030 G>C was also not associated with HSCR in hierarchical analysis. Conclusions Our results suggest that the miR-492 rs2289030 G>C polymorphism is not associated with susceptibility to HSCR in southern Chinese children. These results need to be further confirmed by investigating a more diverse ethnic population of patients with HSCR.

Association Between miR-492 rs2289030 G>C and Susceptibility to Neuroblastoma in Chinese Children from Jiangsu Province

“…The reasons for the differential expression of miR-492 in various cancers are not fully understood, and further studies with larger sample sizes are needed. Consistent with our results, studies exploring miR-492 rs2289030 G>C genotype and susceptibility to colorectal cancer 46 and gastric cancer 47 failed to find an association, as did Hirschsprung disease 48 and high-risk atrophic gastritis. 47 The participants in these studies were European or southern Chinese.…”

The roles of non-coding RNAs in Hirschsprung's disease

“…Likewise, research by Wu et al [ 57 ] emphasized the connection of the miR-4318 rs8096901 polymorphism to HSCR risk in southern Chinese children, especially evident in short-segment HSCR cases. Subsequent research identified polymorphisms like pre-miR-146a rs2910164, miR-618 rs2682818 C > A, and miR-492 rs2289030 G > C as pivotal markers associated with HSCR susceptibility [ [58] , [59] , [60] ]. These revelations amplify the significance of miRNAs in understanding HSCR's genesis and progression.…”

Pathogenic roles of microRNAs and competing endogenous RNAs in Hirschsprung disease (HSCR): Potential diagnostic markers for HSCR

“…The results showed that miR-618 rs2682818 C>A polymorphism is associated with a decreased risk of HSCR in Chinese children, especially in patients with the longsegment HSCR (L-HSCR) subtype. Zheng et al 19 collected samples from 1473 control patients and 1470 HSCR patients. Real-time fluorescence quantitative polymerase chain reaction was used to detect miR-492 rs2289030 G>C TaqMan genotyping.…”