Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population-Reference-Cited by-同舟云学术

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

Published:2019-08 Issue:8 Volume:39 Page:
ISSN:0144-8463
Container-title:Bioscience Reports
language:en
Short-container-title:

Author:

Xie Xiaoli¹,He Qiuming¹,Huang Lihua¹,Li Le¹,Yao Yuxiao¹,Xia Huimin¹^ORCID,Zhao Jinglu¹,Zhong Wei¹,Zhang Yan¹^ORCID

Affiliation:

1. Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China

Abstract

Abstract 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.

Publisher

Portland Press Ltd.

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Link

https://portlandpress.com/bioscirep/article-pdf/doi/10.1042/BSR20182290/863686/bsr-2018-2290.pdf

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