Associations of <i>SLC6A20</i> genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population

Xie, Xiaoli; He, Qiuming; Huang, Lihua; Li, Le; Yao, Yuxiao; Xia, Huimin; Zhao, Jianhao; Zhong, Wei; Zhang, Yan

doi:10.1042/bsr20182290

Cited by 9 publications

(5 citation statements)

References 29 publications

(44 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…O gene SLC6A20 (OMIM# 605616) tem recente sugestão de associação com HSCR, principalmente na população asiática. Foi investigado que este gene tem um efeito de dose na extensão do segmento aganglionar durante o desenvolvimento do sistema nervoso entérico (XIE et al, 2019;LEE et al, 2016), podendo também ser um bom candidato para os casos esporádicos da doenca. NRG1 (OMIM#142445) expressa a neuregulina 1, esta proteína e seus receptores (ErbB), são essenciais para o desenvolvimento neuronal.…”

Section: Discussionunclassified

Aspectos Genéticos Da Doença De Hirschsprung: Uma Revisão Integrativa Dos Genes Confirmados E Candidatos a Patogenia

Miranda¹,

Sanomia²

2021

TeS

View full text Add to dashboard Cite

RESUMO -A doença de Hirschsprung, também conhecida como megacólon aganglionar congênito, é uma desordem rara caracterizada pela heterogeneidade genética e associação com diferentes genes e polimorfismos, que dificultam a determinação da etiologia genética da doença. Com isso, o objetivo deste estudo foi realizar uma revisão integrativa da literatura sobre os aspectos genéticos da doença de Hirschsprung relacionando aos genes confirmados e candidatos a sua patogenia. Para tanto, este trabalho foi produzido dividindo-se nas fases de: formulação do problema, coleta de dados, avaliação dos dados para inclusão/exclusão, análise sistemática dos dados para categorização, apresentação e interpretação dos resultados e discussão. Dessa forma, as informações foram minunciosamente analisadas e organizadas sistematicamente, dando origem a duas classes: Mutações reconhecidas como patogênicas e Mutações relatadas, mas com patogenicidade apenas sugerida. Foram reunidos artigos que identificaram os genes RET, MAPK10, ZFHX1B, SOX2, CaSR, DSCAM, EDNRB, EDN3, SLC6A20, NRG1, SEMA3 e seus respectivos polimorfismos com potencial de associação a doença, e genes candidatos a HSCR. No entanto, por questões metodológicas o presente estudo sugere que serão necessárias

show abstract

Section: Discussionunclassified

Aspectos Genéticos Da Doença De Hirschsprung: Uma Revisão Integrativa Dos Genes Confirmados E Candidatos a Patogenia

Miranda¹,

Sanomia²

2021

TeS

View full text Add to dashboard Cite

show abstract

“…CYP2B6 rs707265, rs1042389, and rs2054675 were selected using criteria as described in our previous study. 15 Briefly, the candidate SNPs that were likely to be regulatory variants and satisfied the criteria regarding the minor allele frequency, Hardy–Weinberg equilibrium (HWE) and linkage disequilibrium were selected for validation.…”

Section: Methodsmentioning

confidence: 99%

Associations of CYP2B6 genetic polymorphisms with Hirschsprung’s disease in a southern Chinese population

Liu

Lan

et al. 2021

J Clin Lab Anal

Self Cite

View full text Add to dashboard Cite

Hirschsprung's disease (HSCR) is a congenital gastrointestinal (GI) disease in which submucosal and intramuscular plexus ganglion cells are lacking in the intestinal wall of the distal digestive tract, which is caused by developmental disorders of the enteric nervous system during embryonic development. 1 The occurrence of HSCR shows sex-related and racial disparities, with a male-to-female ratio of 4/1 and a higher incidence in Asia, including China (1/3500 vs. 1/5000). 2 Hirschsprung's disease can be divided into 3 subtypes depending on the length of the aganglionic tract, including short-segment HSCR (S-HSCR), long-segment HSCR (L-HSCR), and total colonic aganglionosis (TCA), with the rare occurrence of cumulative full-bowel megacolon. 3 In addition, according to the presence or absence of other

show abstract

“…Mutations in SLC6A20 have been associated with Hirschsprung's disease (Xie et al, 2019). The set of genes associated with Hirschsprung include GDNF, which is also linked to the CCHS (Section 3.5.4).…”

Section: Gwas Risk Factor Converging With Ace2 B1r and Mir200c Signalingmentioning

confidence: 99%

Whole patient knowledge modeling of COVID-19 symptomatology reveals common molecular mechanisms

Brock¹,

Jackson²,

Soldatos

et al. 2023

Front. Mol. Med

View full text Add to dashboard Cite

Infection with SARS-CoV-2 coronavirus causes systemic, multi-faceted COVID-19 disease. However, knowledge connecting its intricate clinical manifestations with molecular mechanisms remains fragmented. Deciphering the molecular basis of COVID-19 at the whole-patient level is paramount to the development of effective therapeutic approaches. With this goal in mind, we followed an iterative, expert-driven process to compile data published prior to and during the early stages of the pandemic into a comprehensive COVID-19 knowledge model. Recent updates to this model have also validated multiple earlier predictions, suggesting the importance of such knowledge frameworks in hypothesis generation and testing. Overall, our findings suggest that SARS-CoV-2 perturbs several specific mechanisms, unleashing a pathogenesis spectrum, ranging from “a perfect storm” triggered by acute hyper-inflammation, to accelerated aging in protracted “long COVID-19” syndromes. In this work, we shortly report on these findings that we share with the community via 1) a synopsis of key evidence associating COVID-19 symptoms and plausible mechanisms, with details presented within 2) the accompanying “COVID-19 Explorer” webserver, developed specifically for this purpose (found at https://covid19.molecularhealth.com). We anticipate that our model will continue to facilitate clinico-molecular insights across organ systems together with hypothesis generation for the testing of potential repurposing drug candidates, new pharmacological targets and clinically relevant biomarkers. Our work suggests that whole patient knowledge models of human disease can potentially expedite the development of new therapeutic strategies and support evidence-driven clinical hypothesis generation and decision making.

show abstract

Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population

Cited by 9 publications

References 29 publications

Aspectos Genéticos Da Doença De Hirschsprung: Uma Revisão Integrativa Dos Genes Confirmados E Candidatos a Patogenia

Aspectos Genéticos Da Doença De Hirschsprung: Uma Revisão Integrativa Dos Genes Confirmados E Candidatos a Patogenia

Associations of CYP2B6 genetic polymorphisms with Hirschsprung’s disease in a southern Chinese population

Whole patient knowledge modeling of COVID-19 symptomatology reveals common molecular mechanisms

Contact Info

Product

Resources

About