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Background: Hirschsprung disease (HSCR) is a rare congenital gastrointestinal disease characterized by the absence of intestinal submucosal and myometrial ganglion cells. Recently, researches indicated that miR-100 regulated the growth, differentiation and apoptosis of neurons, and affected the functions of HSCR-associated pathways. While miR-100 rs1834306 A>G polymorphism was shown to modify the susceptibility to tumors, the association between this polymorphism and HSCR susceptibility is still unknown. Methods: This was a case–control study consisting of 1470 HSCR cases and 1473 controls from southern China. DNA was genotyped by TaqMan real-time PCR. Odds ratios (ORs) and 95% confidence intervals (CIs) were used as statistical indicators. Results: We found that miR-100 rs1834306 G allele and GG genotype significantly increased HSCR susceptibility (GG vs AA: adjusted OR=1.31, 95% CI=1.04– 1.64, P=0.020; G vs A: adjusted OR=1.12, 95% CI=1.01– 1.25, P=0.041; GG vs AA/AG: adjusted OR=1.30, 95% CI=1.07– 1.59, P=0.010). In the stratified analysis, miR-100 rs1834306 GG genotype carriers had higher risk to develop HSCR in all clinical subtypes when compared with those with AA/AG genotypes, and OR was rising with HSCR aggravation (SHSCR: adjusted OR=1.28, 95% CI=1.03– 1.59, P=0.029; LHSCR: adjusted OR=1.48, 95% CI=1.06– 2.07, P=0.020; TCA: adjusted OR=2.12, 95% CI=1.22– 3.69, P=0.008). Conclusion: Our findings suggested that miR-100 rs1834306 A>G polymorphism was associated with increased HSCR susceptibility in southern Chinese children. Furthermore, miR-100 rs1834306 GG genotype had a greater genetic pathopoiesis in severe HSCR. [ABSTRACT FROM AUTHOR]

Background: Abnormal expression of microRNAs (miRNAs) plays an important role in development of several cancer types, including bladder cancer (BCa). However, the relationship between the ratio of miR-181/miR-100 and the prognosis of BCa has not been studied yet. The aim of this study was to evaluate the expression of miR-182, miR-100 and their clinical significance in BCa. Methods: Upregulation of miR-182 and down-regulation of miR-100 were validated in tissue specimens of 134 BCa cases compared with 148 normal bladder epithelia (NBE)specimens using TaqMan-based real-time reverse transcription quantitative PCR (RT-qPCR). The diagnostic and prognostic evaluation of miR-182, miR-100, and miR-182/miR-100 ratio was also performed. Results: miR-182 was upregulated in BCa and miR-100 was down-regulated in BCa compared with NBE (P< 0.001). The areas under receiver operating characteristic curves (AUCs-ROC) for miR-182 and miR-100 were 0.913 and 0.810, respectively. However, miR-182/ miR-100 ratio increased the diagnostic performance, yielding an AUC of 0.981 (97.01 % sensitivity and 90.54% specificity). Moreover, miR-182/miR-100 ratio was associated with pT-stage, histological grade, BCa recurrence and carcinoma in situ (P < 0.05 for all). Multivariate Cox regression analysis indicated that miR-182/miR-100 ratio was an independent prognostic factor for overall survival (Hazard ratio: 7.142; 95% CI: 2.106-9.891; P<0.01). Furthermore, Kaplan-Meier curve analysis revealed that high-level of miR-182/miR-100 ratio was significantly correlated with shortened survival time for BCa patients (P < 0.01). Conclusion: The miR-182/miR-100 ratio may serve asa novel promising biomarker for diagnosis and survival prediction in BCa. Further studies are needed to elucidate the role of miR-182/miR-100 ratio as a non-invasive diagnostic tool for BCa. [ABSTRACT FROM AUTHOR]