title: Association of NFATc1 gene polymorphism with ventricular septal defect in the Chinese Han population.
abstract: BACKGROUND
  Congenital heart disease (CHD) is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with the development of the heart. Recently, focus is on the role of transcription factor NFATc1 in the development of proper valve and septa. As part of a larger study, high density single nucleotide polymorphism (SNP) scanning was used to explore the relationship between NFATc1 gene polymorphism and susceptibility to ventricular septal defect (VSD) in the Chinese Han population.
  
  
  METHODS
  One hundred and ninety-two pediatric patients with congenital VSD and 192 matching healthy control subjects were studied. The haplotype reconstructions were calculated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and define haplotype blocks. The algorithm used for defining the blocks was the confidence interval method.
  
  
  RESULTS
  The NFATc1 gene region can be divided into 11 haplotype blocks. Strong linkage disequilibrium existed within blocks 6, 8, 9, and 11. Three SNPs (rs7240256, rs11665469, and rs754505) within the NFATc1 gene had significant correlation with VSD by single marker association analysis. In addition, two haplotypes correlated with VSD.
  
  
  CONCLUSIONS
  NFATc1 is associated with the occurrence of VSD and it may be a predisposing gene to CHD in Han Chinese. This finding has set a direction for further genetic and functional studies.
authors.affiliation: Cardiac Center, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Shen
authors.forename: Zhong-zhi
authors.initials: ZZ
authors.lastname: Li
authors.forename: A-dong
authors.initials: AD
authors.lastname: Shen
authors.forename: Hui
authors.initials: H
authors.lastname: Liu
authors.forename: Song
authors.initials: S
authors.lastname: Bai
authors.forename: Jian
authors.initials: J
authors.lastname: Guo
authors.forename: Feng
authors.initials: F
authors.lastname: Yuan
authors.forename: Xiao-feng
authors.initials: XF
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D050778:NFATC Transcription Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D050778:NFATC Transcription Factors; C494003:NFATC1 protein, human