title: Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population.
abstract: BACKGROUND
  Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism (SNP) scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population.
  
  
  METHODS
  One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calculated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method.
  
  
  RESULTS
  The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect (P = 0.0037) by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect (P = 0.05, multiple loci regression analyses based on reconstructed haplotype blocks).
  
  
  CONCLUSIONS
  TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese. This finding has set a direction for further genetic and functional studies.
authors.affiliation: Paediatric Heart Centre, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Cai-xia
authors.initials: CX
authors.lastname: Liu
authors.forename: A-dong
authors.initials: AD
authors.lastname: Shen
authors.forename: Xiao-feng
authors.initials: XF
authors.lastname: Li
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Jiao
authors.forename: Song
authors.initials: S
authors.lastname: Bai
authors.forename: Feng
authors.initials: F
authors.lastname: Yuan
authors.forename: Xiao-lei
authors.initials: XL
authors.lastname: Guan
authors.forename: Xin-gen
authors.initials: XG
authors.lastname: Zhang
authors.forename: Gui-rong
authors.initials: GR
authors.lastname: Zhang
authors.forename: Zhong-zhi
authors.initials: ZZ
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5