Key result
TBX2 variant rs4455026 C allele linked to ~30% lower CHD risk versus wild-type GG genotype.
Why the study?
Because Tbx2 plays a vital role in cardiac cushion development, this study aimed to determine the relationship between common genetic variants in the promoter region of TBX2 and the risk of congenital heart disease.
Does the rs4455026 variant in the TBX2 promoter region reduce the susceptibility to congenital heart disease in the Han Chinese population?
Case-Control (n=1,103)
Does the rs4455026 variant in the TBX2 promoter region reduce the susceptibility to congenital heart disease in the Han Chinese population?
Odds Ratio: 0.7 (95% CI 0.55–0.89)
p-value: p=0.0038
The minor C allele of rs4455026 in the TBX2 promoter region is associated with a significantly lower susceptibility to congenital heart disease in the Han Chinese population.
rs4455026 C allele associated with lower CHD risk in Han Chinese; leaves open TBX2 promoter role in broader susceptibility.
BACKGROUND: Tbx2 plays a vital role in the cardiac cushion development. In this study, we aimed to determine the relationship between common genetic variants in the promoter region of TBX2 gene and the risk of congenital heart disease (CHD). METHODS: Blood samples of 516 CHD patients and 587 control subjects were enrolled. Sanger sequencing and SNaPshot analysis were performed for genotyping in our case-control cohort. Luciferase and electrophoretic mobility shift assay (EMSA) were conducted to uncover the potential modulatory mechanism of the related variants. RESULTS: Variant rs4455026(c.-1028G>C) in TBX2 promoter region was found to be associated with significantly lower CHD susceptibility. The risk of CHD in C allele carriers (GC and CC genotypes) decreased by 30% compared to the wild-type GG genotype subjects (OR = 0.70, 95% CI = 0.55-0.89, p = 0.0038). It was revealed that G to C variation resulted in a decrease in the transcriptional activity of luciferase gene, and a potential change in binding affinity with certain nucleoproteins in EMSA data. CONCLUSION: The minor C allele of rs4455026 in TBX2 promoter region was related with lower CHD susceptibility in the Han Chinese population via repressing its transcriptional activity.
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Zhang et al. (2018) conducted a case-control in Congenital heart disease (CHD) (n=1,103). C allele of variant rs4455026 in TBX2 promoter region vs. Wild-type GG genotype was evaluated on Risk of congenital heart disease (CHD) (OR 0.70, 95% CI 0.55-0.89, p=0.0038). The C allele of variant rs4455026 in the TBX2 promoter was associated with a decreased risk of congenital heart disease compared to the wild-type GG genotype (OR 0.70; 95% CI 0.55-0.89; p=0.0038).
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