title: Association between polymorphisms in AXIN1 gene and atrial septal defect.
abstract: BACKGROUND
  AXIN1 is a central component of Wnt signalling pathway which is essential for embryonic development.
  
  
  OBJECTIVE
  To investigate whether polymorphisms of AXIN1 contribute to ASD susceptibility.
  
  
  METHODS
  Three tag SNPs (rs12921862, rs370681 and rs1805105) in AXIN1 were genotyped in 208 ASD patients and 302 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in a Chinese population.
  
  
  RESULTS
  Significantly increased ASD risk was observed to be associated with the A allele of rs12921862 (p < 0.0001, OR = 3.096, 95% CI = 2.037-4.717). Increased ASD risk was observed to be associated with rs370681 in a codominant (p = 0.043, OR = 1.52, 95% CI = 1.04-2.22) and overdominant model (p = 0.016, OR = 1.57, 95% CI = 1.08-2.27).
  
  
  CONCLUSIONS
  rs12921862 and rs370681 may contribute to ASD susceptibility.
authors.affiliation: Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University , Chengdu, Sichuan , P.R. China .
authors.forename: Yan
authors.initials: Y
authors.lastname: Pu
authors.forename: Peng
authors.initials: P
authors.lastname: Chen
authors.forename: Bin
authors.initials: B
authors.lastname: Zhou
authors.forename: Yanyun
authors.initials: Y
authors.lastname: Wang
authors.forename: Yaping
authors.initials: Y
authors.lastname: Song
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.forename: Li
authors.initials: L
authors.lastname: Rao
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
mesh_terms: D060466:Axin Protein / Q000235:genetics*; D001483:Base Sequence; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D017931:DNA Primers; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide
chemical_list: C555451:AXIN1 protein, human; D060466:Axin Protein; D015415:Biomarkers; D017931:DNA Primers
keywords: AXIN1; Atrial septal defects; Wnt signalling pathway; genetic susceptibility; polymorphism