Association Between The SNPs Of Human Tbx20 Gene And Congenital Atrial Septal Defects

Objectives:We aimed to investigate the association study of the Tbx20 gene polymorphism with congenital atrial septal defects.Methods:We selected the case-control study of the two groups respectively, the Han population:214 cases with atrial septal defects and 382 gender, age-matched normal healthy controls; Uighur population:160 cases with atrial septal defects and 160 gender-, age-matched normal healthy controls were selected for the present study. All atrial septal defects patients and controls were genotyped for the same three single nucleotide polymorphisms (SNPs) (rs4720169, rs 17675131 and rs2532170) of Tbx20 gene by a real-time PCR instrument.Results:In the Han population, The distributions of the Tbx20 SNP rs17675131 genotypes were significantly different between the 2 groups (P=0.014); specifically, the A/G allele distribution frequencies were significantly different between the 2 groups (P=0.004), and the dominant model (GG vs. AG+AA) was distributed significantly differently between the 2 groups (P=0.007; odds ratio (OR)=0.626). The SNP rs4720169 genotypes showed significantly different distributions between the 2 groups (P=0.016); specifically, the A/G allele distribution frequencies were statistically different between the 2 groups (P= 0.016), and the recessive model (AA vs. AG+GG) showed a significantly different distribution between the 2 groups (P= 0.008; OR= 1.96). In Uighur population, The frequencies of AA,AG and GG genotype of Tbx20 SNP rs17675131 showed significant differences between two groups(P=0.025). The frequency of Tbx20 A and G alleles showed a significant difference between two groups(P= 0.028).the distribution of the recessive model of rs17675131 (AA versus GG+AG)differed significantly between the case and control subjects(P=0.011 OR=2.417).Conclusion:The rs 17675131 and rs4720169 of Tbx20 gene are associated with congenital atrial septal defects in the Han population. The genetic polymorphism rs17675131 of Tbx20 may increase the risk for congenital atrial septal defects in Uygur.