title: [Association of single nucleotide polymorphisms of Axis inhibitor-2 gene rs224030, rs8081536, rs9913621 with Hirschsprung disease].
abstract: OBJECTIVE
  To investigate the association of Axis inhibitor-2 (AXIN2) gene rs2240308, rs8081536 and rs9913621 single nucleotide polymorphisms (SNPs) with Hirschsprung disease(HSCR).
  
  
  METHODS
  DNA was extracted from 120 HSCR patients and 120 healthy controls. The AXIN2 gene exon2-rs2240308, exon5- rs8081536 and exon6-rs9913621 were amplified by polymerase chain reaction (PCR). SNPs of AXIN2 gene were analyzed by restrictive endonuclease digestion with CviJI, DdeI and BstNI and DNA sequencing. The allele and genotype frequencies and risk factors of HSCR and control group were analyzed by Chi-square test.
  
  
  RESULTS
  No significant differences were found in genotype frequencies of CC and CT in AXIN2 rs8081536 between HSCR patients and the control group (P> 0.05). The frequencies of genotypes GG, AG and AA as well as alleles A and G genotypes in AXIN2 gene rs2240308 locus were found to be associated with HSCR (P< 0.05). The disease risk of genotypes GG and AA and allele G with was 2.091, 0.846 and 1.703, respectively. The frequencies of genotypes CC, CT and TT as well as alleles C and T in AXIN2 gene rs9913621 locus were also associated with HSCR (P< 0.05). The disease risk of the genotypes CC and TT and the allele T was 0.535, 1.113 and 1.569, respectively. Heterozygote mutation for rs2240308 was found in the HSCR patients, i.e. the GCA to CCA mutation at position 301. Heterozygosity for rs9913621 was observed in the HSCR patients, i.e. the CAC to CAG mutation at position 199.
  
  
  CONCLUSIONS
  The rs8081536 allelic variation in AXIN2 gene does not contribute to the susceptibility of HSCR in the patients. AXIN2 rs2240308 and rs9913621 allelic variation might be related to HSCR. Individuals having allele G and T in these loci are at relatively high risk for HSCR.
authors.affiliation: Key Laboratory of Congenital Malformation Research, Ministry of Health, Shengjing Affiliated Hospital, China Medical University, Shenyang, Liaoning 110004, P. R. China. gaohong515@sina.com
authors.forename: Hong
authors.initials: H
authors.lastname: Gao
authors.forename: Juan
authors.initials: J
authors.lastname: Zhang
authors.forename: Weilin
authors.initials: W
authors.lastname: Wang
authors.forename: Zhibo
authors.initials: Z
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Huang
authors.forename: Shucheng
authors.initials: S
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D060466:Axin Protein; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: C491761:AXIN2 protein, human; D060466:Axin Protein; D003598:Cytoskeletal Proteins