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 11 publications

(8 citation statements)

References 29 publications

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“…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

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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

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Section: Discussionunclassified

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

Miranda¹,

Sanomia²

2021

TeS

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“…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

Clinical Laboratory Analysis

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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

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“…In addition to RPE, SLC6A20 is also found in epithelial cells of the intestine, kidney and lung. SLC6A20 genetic polymorphisms are associated with Hirschsprung's disease, iminoglycinuria, degenerative macular diseases and severe Covid-19 with respiratory failure (Ellinghaus et al 2020;Gao et al 2018;Kim et al 2014;Lee et al 2016;Xie et al 2019). Hirschsprung's disease is a congenital and heterogeneous disorder characterized by missing nerves in the colon.…”

Section: Proline Transport and Transportersmentioning

confidence: 99%

Proline metabolism and transport in retinal health and disease

Zhu

Lim

et al. 2021

Amino Acids

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The retina is one of the most energy-demanding tissues in the human body. Photoreceptors in the outer retina rely on nutrient support from the neighboring retinal pigment epithelium (RPE), a monolayer of epithelial cells that separate the retina and choroidal blood supply. RPE dysfunction or cell death can result in photoreceptor degeneration, leading to blindness in retinal degenerative diseases including some inherited retinal degenerations and age-related macular degeneration (AMD). In addition to having ready access to rich nutrients from blood, the RPE is also supplied with lactate from adjacent photoreceptors. Moreover, RPE can phagocytose lipid-rich outer segments for degradation and recycling on a daily basis. Recent studies show RPE cells prefer proline as a major metabolic substrate, and they are highly enriched for the proline transporter, SLC6A20. In contrast, dysfunctional or poorly differentiated RPE fails to utilize proline. RPE uses proline to fuel mitochondrial metabolism, synthesize amino acids, build the extracellular matrix, fight against oxidative stress, and sustain differentiation. Remarkably, the neural retina rarely imports proline directly, but it uptakes and utilizes intermediates and amino acids derived from proline catabolism in the RPE. Mutations of genes in proline metabolism are associated with retinal degenerative diseases, and proline supplementation is reported to improve RPE-initiated vision loss. This review will cover proline metabolism in RPE and highlight the importance of proline transport and utilization in maintaining retinal metabolism and health.

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Associations ofSLC6A20genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population

Cited by 11 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

Proline metabolism and transport in retinal health and disease

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