title: [Relationship of Ghrelin gene polymorphism with congenital anorectal malformation and Hirschsprung disease].
abstract: OBJECTIVE
  To explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations (ARMs) and Hirschsprung disease(HSCR).
  
  
  METHODS
  PCR and DNA sequencing were used to detect the single nucleotide polymorphism (SNPs) of 3 loci (rs139684563, rs149447194, rs186599567) genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children (normal group). Genovariation and gene mutation were analyzed with case-control method.
  
  
  RESULTS
  Three loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups (P>0.05). The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group (P<0.05). DNA sequencing results showed that wild-type homozygous deletion (176th and 191th base A deletion, respectively) were found in rs149447194 and rs186599567of ARMs and HSCR children, and single base substitution was detected in rs149447194 of ARMs children (194th codon nucleotide CCT to CTC).
  
  
  CONCLUSIONS
  The rs149447194 and the rs186599567 polymorphism changes may be associated with the pathogenesis of ARMs and HSCR.
authors.affiliation: Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang 110004, China. wangwl@sj-hospital.org.
authors.forename: Hong
authors.initials: H
authors.lastname: Gao
authors.forename: Dajia
authors.initials: D
authors.lastname: Wang
authors.forename: Xiangxuan
authors.initials: X
authors.lastname: Zhao
authors.forename: Jie
authors.initials: J
authors.lastname: Mi
authors.forename: Yuzuo
authors.initials: Y
authors.lastname: Bai
authors.forename: Weilin
authors.initials: W
authors.lastname: Wang
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005787:Gene Frequency; D005838:Genotype; D054439:Ghrelin; D006627:Hirschsprung Disease; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012002:Rectal Diseases; D017422:Sequence Analysis, DNA
chemical_list: D054439:Ghrelin