Potential association of <i><scp>VAMP</scp>5</i> polymorphisms with total colonic aganglionosis in Hirschsprung disease

Shin, Joong Gon; Kim, D. Y.; Seo, Jeong Meen; Oh, Jung Tak; Park, K. W.; Kim, Sujeong; Park, B. L.; Kim, Jeong Hyun; Shin, Hyoung-Doo

doi:10.1111/nmo.12807

Cited by 4 publications

(5 citation statements)

References 28 publications

(57 reference statements)

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“…SNPs rs10206961 and rs14242 in VAMP5 shows significant association with HSCR (0.044≤P_adj≤0.046, 1.12≤OR≤1.17 for rs10206961; P_adj=0.020, OR=1.20 for rs14242). Inconsistent with the report by Shin JG et al [ 12 ] for the SNP rs1254900 in VAMP5 , we failed to replicate the association in our population (0.666≤P≤0.953, 0.97≤OR≤1.04 for rs1254900). For the most prominent SNP rs11241200 in MCC , 0.282≤P≤0.438 for rs11241200, we failed to replicate the association as presented previously [ 17 ].…”

Section: Resultssupporting

confidence: 58%

“…More specifically, genetic variants of VAMP5 may functionally hinder the normal the migration and proliferation of enteric neural crest cell. Similar genetic studies have suggested that there was a relationship between VAMP5 polymorphisms and HSCR [ 12 ]. Three SNPs in VAMP5 overlaps with the previously reported potential association of VAMP5 polymorphisms with 21 TCA patients [ 20 ].…”

Section: Discussionmentioning

confidence: 55%

“…Vesicle-associated membrane protein 5 ( VAMP5 ) has been reported to provide their subcellular targeting in the synaptic vesicle fusion process of enteric nervous system (ENS) neurotransmission [ 10 , 11 ]. Shin JG et al suggested that two single nucleotide polymorphisms (SNP, rs10206961 and rs1254900) of VAMP5 were the potential risk locus in TCA progression by using 187 Korean HSCR patients and 283 unaffected controls (P=0.006 for rs10206961, P=8.03×10 -5 for rs1254900), we also included SNP rs14242 in VAMP5 with suggestive significance to HSCR (P=0.04) for further replication [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

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

Zhao

Xie

Yao

et al. 2018

Aging

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Hirschsprung disease (HSCR) is a genetic disorder characterized by the absence of neural crest cells in parts of the intestine. This study aims to investigate the association of vesicle-associated membrane protein 5 (VAMP5) and mutated in colorectal cancer (MCC) genetic polymorphisms and their correlated risks with HSCR. We examined the association in four polymorphisms (rs10206961, rs1254900 and rs14242 in VAMP5, rs11241200 in MCC) and HSCR susceptibility in a Southern Chinese population composed of 1473 cases and 1469 controls. Two variants in VAMP5 were replicated as associated with HSCR. Interestingly, we clarified SNPs rs10206961 and rs1254900 in VAMP5 are more essential for patients with long-segment aganglionosis (LHSCR). Relatively high expression correlation was observed between VAMP5 and MCC using data from public database showing there may exist potential genetic interactions. SNP interaction was cross-examined by logistic regression and multifactor dimensionality reduction analysis revealing that VAMP5 rs1254900 and MCC rs11241200 were interacting significantly, thereby contributing to the risk of HSCR. The results suggest that significant associations of the rs10206961 and rs14242 in VAMP5 with an increased risk of HSCR in Southern Chinese, especially in LHSCR patients. This study provided new evidence of epistatic association of VAMP5 and MCC with increased risk of HSCR.

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Section: Resultssupporting

confidence: 58%

Section: Discussionmentioning

confidence: 55%

Section: Introductionmentioning

confidence: 99%

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

Zhao

Xie

Yao

et al. 2018

Aging

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“…It encodes synaptobrevin, a member of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) protein complex. In the GWAS studies five SNPs (rs10206961, rs1561198, rs1254900, rs55971080, and rs14242) of VAMP5 and three haplotypes including BL1_ht1, BL2_ht1,and BL2_ht2 were significantly potential risk for TCA in HSCR [Shin et al, 2016]. Additionally another GWAS study identified 13 SLC6A20 SNPs that were significantly associated with HSCR, even following correction for multiple comparisons.…”

Section: Genes and Variations Associated With Risk Of Hscrmentioning

confidence: 99%

Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application

Bahrami

Joodi

Moetamani‐Ahmadi

et al. 2017

J of Cellular Biochemistry

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Hirschsprung's disease (HSCR) is a congenital disorder, defined by partial or complete loss of the neuronal ganglion cells in the intestinal tract, which is caused by the failure of neural crest cells to migrate completely during intestinal development during fetal life. HSCR has a multifactorial etiology, and genetic factors play a key role in its pathogenesis; these include mutations within several gene loci. These have been identified by screening candidate genes, or by conducting genome wide association (GWAS) studies. However, only a small portion of them have been proposed as major genetic risk factors for the HSCR. In this review, we focus on those genes that have been identified as either low penetrant or high penetrant variants that determine the risk of Hirschsprung's disease.

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“…25,34,43 Furthermore, vesicle-associated membrane protein 5 rs1254900 and mutated in colorectal cancer rs11241200 contributed to the risk of HSCR by logistic regression and multifactor dimensionality reduction analyses in southern Chinese children and the Korean population. 27,44 These studies mentioned above indicate that SNPs may affect expression and function of target genes and may contribute to susceptibility of HSCR. Nonetheless, additional studies are required to improve the knowledge about the role of epigenetics in the pathogenesis of HSCR.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2020

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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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Potential association of VAMP5 polymorphisms with total colonic aganglionosis in Hirschsprung disease

Abstract: Considering that differential genetic effects on the development of the enteric nervous system, our results suggest that VAMP5 may be associated with the TCA of HSCR. However, further replications and functional evaluations are required.

Cited by 4 publications

References 28 publications

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

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

Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application

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

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