Association between Tbx20 gene polymorphism and congenital atrial septal defects / 中华内科杂志

ABSTRACT

Objective To investigate the association between single nucleotide polymorphisms (SPN) of Tbx20 gene and congenital atrial septal defects (ASD) in the Xinjiang Han population.Methods A total of 214 ASD patients and 382 controls were included in the present study.Two SNPs (rs17675131,rs4720169) in Tbx20 gene were genotyped by TaqMan SNP genotyping method.Results The distribution of the rs17675131 of Tbx20 were significantly different between normal controls and ASD patients (P =0.014),in which both the A/G allele distribution (P =0.004) and the dominant model (GG vs AG + AA) were significantly different between the 2 groups (P =0.007,OR =0.626).Same is true for the rs4720169 SNP.Its genotype showed significantly different distributions between the 2 groups (P =0.016) specifically for the A/G allele distribution frequencies (P =0.016) and the recessive model (AA vs AG + GG) (P =0.008,OR =1.96).The A-A haplotype was found to be associated with ASD.Conclusion Both rs17675131 and rs4720169 of Tbx20 gene are associated with congenital ASD in the Xinjiang Han population in China.