scholarly journals Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children

2021 ◽  
Author(s):  
Chaoting Lan ◽  
Yuxin Wu ◽  
Ning Wang ◽  
Yun Luo ◽  
Jinglu Zhao ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
Chinese Children ◽  
Southern Chinese

scholarly journals miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children

2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Yi Zheng ◽  
Tongyi Lu ◽  
Xiaoli Xie ◽  
Qiuming He ◽  
Lifeng Lu ◽  
...  
Keyword(s):  
Disease Risk ◽  
Malignant Tumors ◽  
Hirschsprung Disease ◽  
Chinese Children ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Functional Region ◽  
Tumor Susceptibility ◽  
Southern Chinese ◽  
Stratified Analysis

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.

scholarly journals Association of VAMP5 and MCC genetic polymorphisms with increased risk of Hirschsprung disease susceptibility in Southern Chinese children

Aging ◽  
2018 ◽  
Vol 10 (4) ◽  
pp. 689-700 ◽  
Author(s):  
Jinglu Zhao ◽  
Xiaoli Xie ◽  
Yuxiao Yao ◽  
Qiuming He ◽  
Ruizhong Zhang ◽  
...  
Keyword(s):  
Genetic Polymorphisms ◽  
Disease Susceptibility ◽  
Hirschsprung Disease ◽  
Chinese Children ◽  
Southern Chinese ◽  
Increased Risk

scholarly journals miR-100 rs1834306 A>G Increases the Risk of Hirschsprung Disease in Southern Chinese Children

2020 ◽  
Vol Volume 13 ◽  
pp. 283-288
Author(s):  
Yun Zhu ◽  
Ao Lin ◽  
Yi Zheng ◽  
Xiaoli Xie ◽  
Qiuming He ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
Chinese Children ◽  
Southern Chinese

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

2020 ◽  
Vol 48 (10) ◽  
pp. 030006052096168
Author(s):  
Yi Zheng ◽  
Yanqing Liu ◽  
Mi Wang ◽  
Qiuming He ◽  
Xiaoli Xie ◽  
...  
Keyword(s):  
Ganglion Cells ◽  
Quantitative Polymerase Chain Reaction ◽  
Multivariate Logistic Regression Analysis ◽  
Neural Crest Cell ◽  
Hirschsprung Disease ◽  
Chinese Children ◽  
Southern Chinese ◽  
Neural Crest Cell Migration ◽  
Differentiation And Proliferation ◽  
Crest Cell

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.

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