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

Hirschsprung’s disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. SLC6A20 was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucl...

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Autores principales: Xie, Xiaoli, He, Qiuming, Huang, Lihua, Li, Le, Yao, Yuxiao, Xia, Huimin, Zhao, Jinglu, Zhong, Wei, Zhang, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692567/
https://www.ncbi.nlm.nih.gov/pubmed/31358688
http://dx.doi.org/10.1042/BSR20182290
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author Xie, Xiaoli
He, Qiuming
Huang, Lihua
Li, Le
Yao, Yuxiao
Xia, Huimin
Zhao, Jinglu
Zhong, Wei
Zhang, Yan
author_facet Xie, Xiaoli
He, Qiuming
Huang, Lihua
Li, Le
Yao, Yuxiao
Xia, Huimin
Zhao, Jinglu
Zhong, Wei
Zhang, Yan
author_sort Xie, Xiaoli
collection PubMed
description Hirschsprung’s disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. SLC6A20 was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucleotide polymorphisms (SNPs) in the SLC6A20 were selected from Southern Chinese with 1470 HSCR cases and 1473 ethnically matched healthy controls. Our results indicated that SNP rs7640009 was associated with HSCR and SLC6A20 has a gene–dose effect in the extent of the aganglionic segment during enteric nervous system (ENS) development. It is the first time to reveal the relationship between SNP rs2191026 and HSCR-associated enterocolitis (HAEC) susceptibility.
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spelling pubmed-66925672019-08-27 Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population Xie, Xiaoli He, Qiuming Huang, Lihua Li, Le Yao, Yuxiao Xia, Huimin Zhao, Jinglu Zhong, Wei Zhang, Yan Biosci Rep Research Articles Hirschsprung’s disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. SLC6A20 was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucleotide polymorphisms (SNPs) in the SLC6A20 were selected from Southern Chinese with 1470 HSCR cases and 1473 ethnically matched healthy controls. Our results indicated that SNP rs7640009 was associated with HSCR and SLC6A20 has a gene–dose effect in the extent of the aganglionic segment during enteric nervous system (ENS) development. It is the first time to reveal the relationship between SNP rs2191026 and HSCR-associated enterocolitis (HAEC) susceptibility. Portland Press Ltd. 2019-08-13 /pmc/articles/PMC6692567/ /pubmed/31358688 http://dx.doi.org/10.1042/BSR20182290 Text en © 2019 The Author(s). http://creativecommons.org/licenses/by/4.0/This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/) .
spellingShingle Research Articles
Xie, Xiaoli
He, Qiuming
Huang, Lihua
Li, Le
Yao, Yuxiao
Xia, Huimin
Zhao, Jinglu
Zhong, Wei
Zhang, Yan
Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population
title Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population
title_full Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population
title_fullStr Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population
title_full_unstemmed Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population
title_short Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population
title_sort associations of slc6a20 genetic polymorphisms with hirschsprung’s disease in a southern chinese population
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692567/
https://www.ncbi.nlm.nih.gov/pubmed/31358688
http://dx.doi.org/10.1042/BSR20182290
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