Epigenetic Evaluation of the <i>TBX20</i> Gene and Environmental Risk Factors in Mexican Paediatric Patients with Congenital Septal Defects

Abstract

The TBX20 gene has a key role during cardiogenesis, and it has been related to epigenetic mechanisms in congenital heart disease (CHD). The purpose of this study was to assess the association between DNA methylation status and congenital septal defects. The DNA methylation of seven CpG sites in the TBX20 gene promoter was analyzed through pyrosequencing as a quantitative method in 48 patients with congenital septal defects and 104 individuals with patent ductus arteriosus (PDA). The average methylation was higher in patients than in PDA (p p = 0.005). The ROC curve analysis indicated that methylation of the TBX20 gene could be considered a risk marker for congenital septal defects (AUC = 0.682; 95% CI = 0.58–0.77; p p = 0.048) and maternal infections (OR = 3.10; 95% CI = 1.26–7.60; p = 0.013). These results suggest that differences in DNA methylation of the TBX20 gene can be associated with septal defects.

Keywords

• <i>TBX20</i> gene
• promotor region
• epigenetics
• DNA methylation
• in silico analysis
• congenital septal defects