RESUMO
TBX20 gene encodes a T - box transcription factor,which plays an important role in cardiac deve-lopment and in maintaining the maturation of cardiac function. TBX20 mutations are related to a variety of human con-genital heart diseases (CHD)that include atrial septal defect,ventricular septal defect,tetralogy of Fallot,double outlet right ventricle,dilated cardiomyopathy and other valvular diseases. This review focuses on the relationship between TBX20 gene and the development of heart,the TBX20 gene mutations newly found in patients with various CHD in re-cent years and their relationship,which will provide guide for further clinical research and possible intervention.
RESUMO
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.