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

Biosci Rep. 2019 Aug 13;39(8):BSR20182290. doi: 10.1042/BSR20182290. Print 2019 Aug 30.

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.

Keywords: Hirschsprung’s disease; SLC6A20; Southern Chinese.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genetic Predisposition to Disease*
  • Hirschsprung Disease / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Polymorphism, Single Nucleotide*

Substances

  • Membrane Transport Proteins
  • SLC6A20 protein, human