Association of TBX20 gene polymorphism with congenital heart disease in Han Chinese neonates

Pediatr Cardiol. 2015 Apr;36(4):737-42. doi: 10.1007/s00246-014-1073-5. Epub 2014 Dec 9.


As a transcription factor mainly expressed in cardiovascular system, T-box 20 (TBX20) plays an important role in embryonic cardiovascular system development and adult heart function. Previous studies have identified associations of two SNPs in the T-box DNA-binding domain of TBX20 with congenital heart disease (CHD) in two Caucasian families, but the associations of TBX20 mutations underlying the more common populations with CHD remain to be uncovered. In this study, 25 unrelated Chinese Han neonates with CHD and 25 healthy children as controls were investigated for TBX20 mutations. SNP genotyping was performed by PCR-DNA sequencing. The selected SNPs were well genotyped and SNP rs3999941 was found to be strongly associated with CHD (p = 0.007). The minor allele of rs3999941 showed a high-risk factor for CHD (OR 4.24; 95 % CI 1.41-12.71). Besides, we found a new SNP site located at the 657th nucleotide of the exon 5 of TBX20 gene which may also be associated with CHD, c.657A>C. The frequency was significantly different between two groups (p = 0.011), the minor allele of SNP c.657A>C also showed a risk factor for CHD (OR 2.56; 95 % CI 1.02-6.46). These findings suggested that the TC genotype of SNP rs3999941 and AC genotype of the new SNP c.657A>C in the TBX20 gene may be risk factors for CHD and thus screening of these SNPs may have some implications in the prevention and treatment of CHD in Han Chinese children.

MeSH terms

  • Alleles
  • China
  • Exons*
  • Female
  • Genetic Predisposition to Disease
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • T-Box Domain Proteins / genetics*


  • T-Box Domain Proteins
  • TBX20 protein, human