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Updated: Mar 28, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Association between Tbx20 gene polymorphism and congenital atrial septal defects]
Yulong Ma, Yang Xiang, Xiaomei Li1
1Department of Cardiology, the First Affiliated Hospital to Xinjiang Medical University, Urumqi 830054, China;
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.
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