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

Association of IL18 genetic polymorphisms with increased risk of Biliary atresia susceptibility in Southern Chinese children

Gene ◽  
2018 ◽  
Vol 677 ◽  
pp. 228-231 ◽  
Author(s):  
Jiankun Liang ◽  
Zhe Wen ◽  
Jinglu Zhao ◽  
Qifeng Liang ◽  
Tao Liu ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Genetic Polymorphisms ◽  
Chinese Children ◽  
Southern Chinese ◽  
Increased Risk

scholarly journals PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children

2020 ◽  
Vol 40 (7) ◽  
Author(s):  
Fei Liu ◽  
Jixiao Zeng ◽  
Deli Zhu ◽  
Xiaogang Xu ◽  
Menglong Lan ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Disease Susceptibility ◽  
Platelet Derived Growth Factor ◽  
Control Cohort ◽  
Dna Hypomethylation ◽  
Southern Chinese ◽  
Increased Risk ◽  
Genetic Biomarker ◽  
Cystic Biliary Atresia ◽  
Large Case

Abstract Biliary atresia (BA) is a genetic and severe fibro-inflammatory obliterative cholangiopathy of neonates. Platelet-derived growth factor subunit A (PDGFA), as one of participants in liver fibrosis, the overexpression of PDGFA through DNA hypomethylation may lead to the development of BA, but the pathogenesis is still unclear. We conducted a large case–control cohort to investigate the association of genetic variants in PDGFA with BA susceptibility in the Southern Chinese population (506 cases and 1473 controls). We observed that the G allele of rs9690350(G>C) in PDGFA was significantly associated with an increased risk of BA (OR = 1.24, 95% CI = 1.04–1.49, P=0.02). Additionally, the rs9690350 G allele increased the risk of non-cystic biliary atresia (OR = 1.26, 95% CI = 1.04–1.52, P=0.02) and was a genetic biomarker of severe manifestations after surgery. These findings indicate that the rs9690350 G allele is a PDGFA polymorphism associated with the risk of BA that may confer increased disease susceptibility.

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 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.

TLR1 and PRKAA1 Gene Polymorphisms in the Development of Atrophic Gastritis and Gastric Cancer

2018 ◽  
Vol 27 (4) ◽  
pp. 363-369 ◽  
Author(s):  
Gintare Dargiene ◽  
Greta Streleckiene ◽  
Jurgita Skieceviciene ◽  
Marcis Leja ◽  
Alexander Link ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Atrophic Gastritis ◽  
Genetic Polymorphisms ◽  
Association Studies ◽  
Control Group ◽  
Similar Distribution ◽  
Genome Wide Association Studies ◽  
Increased Risk ◽  
Infection Susceptibility ◽  
H Pylori

Background & Aims: Previous genome-wide association studies showed that genetic polymorphisms in toll-like receptor 1 (TLR1) and protein kinase AMP-activated alpha 1 catalytic subunit (PRKAA1) genes were associated with gastric cancer (GC) or increased Helicobacter pylori (H. pylori) infection susceptibility. The aim of this study was to evaluate the association between TLR1 and PRKAA1 genes polymorphisms and H.pylori infection, atrophic gastritis (AG) or GC in the European population.Methods: Single-nucleotide polymorphisms (SNPs) were analysed in 511 controls, 340 AG patients and 327 GC patients. TLR1 C>T (rs4833095) and PRKAA1 C>T (rs13361707) were genotyped by the real-time polymerase chain reaction. H. pylori status was determined by testing for anti-H. pylori IgG antibodies in the serum.Results: The study included 697 (59.2%) H. pylori positive and 481 (40.8%) H. pylori negative cases. We observed similar distribution of TLR1 and PRKAA1 alleles and genotypes in H. pylori positive and negative cases. TLR1 and PRKAA1 SNPs were not linked with the risk of AG. TC genotype of TLR1 gene was more prevalent in GC patients compared to the control group (29.7% and 22.3% respectively, p=0.002). Carriers of TC genotype had a higher risk of GC (aOR=1.89, 95% CI: 1.26–2.83, p=0.002). A similar association was observed in a dominant inheritance model for TLR1 gene SNP, where comparison of CC+TC vs. TT genotypes showed an increased risk of GC (aOR=1.86, 95% CI: 1.26–2.75, p=0.002). No association between genetic polymorphism in PRKAA1 gene and GC was observed.Conclusions: TLR1 rs4833095 SNP was associated with an increased risk of GC in a European population, while PRKAA1 rs13361707 genetic variant was not linked with GC. Both genetic polymorphisms were not associated with H. pylori infection susceptibility or the risk of AG.

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