Abstract
MicroRNAs (miRNAs) are endogenous non-coding small RNAs that play an important role in the development of many malignant tumors. In addition, recent studies have reported that single nucleotide polymorphisms (SNPs) located in the miRNA functional region was inextricably linked to tumor susceptibility. In the present study, we investigated the susceptibility between miR-618 rs2682818 C>A and Hirschsprung disease (HSCR) in the Southern Chinese population (1470 patients and 1473 controls). Odds ratios (ORs) and 95% confidence intervals (CIs) were used for estimating the strength of interrelation between them. We found that the CA/AA genotypes of miR-618 rs2682818 were associated with a decreased risk of HSCR when compared with the CC genotype (OR = 0.84, 95% CI = 0.72–0.99, P=0.032). Based on the stratified analysis of HSCR subtypes, the rs2682818 CA/AA genotypes were able to significantly lessen the risk of HSCR compared with CC genotype in patients with long-segment HSCR (adjusted OR = 0.70, 95% CI = 0.52–0.93, P=0.013). In conclusion, our results indicated that the miR-618 rs2682818 C>A polymorphism was associated with a reduced risk of HSCR in Chinese children, especially in patients with long-segment HSCR (L-HSCR) subtype.
Highlights
Hirschsprung disease (HSCR), known as aganglionosis, is a common congenital digestive tract disease in pediatric surgery [1]
According to the length of the ganglion segment, HSCR can be divided into three types, including short-segment HSCR (S-HSCR), long-segment HSCR (L-HSCR) and total colon aganglionosis (TCA) [7,8]
More than a dozen genes related to the pathogenesis of HSCR were confirmed, including RET [12], EDNRB [13], SOX10 [14], GDNF [15], EDN3 [16], PHOX2B [17,18], etc
Summary
Hirschsprung disease (HSCR), known as aganglionosis, is a common congenital digestive tract disease in pediatric surgery [1]. More than a dozen genes related to the pathogenesis of HSCR were confirmed, including RET [12], EDNRB [13], SOX10 [14], GDNF [15], EDN3 [16], PHOX2B [17,18], etc. These gene mutations associated with the onset of HSCR are only half of current HSCR cases [6]. The genetic model of HSCR is a multifactorial genetic disease, and its specific pathogenesis remains to be further explored [19,20]
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