3 'UTR SNPs and Haplotypes in the GATA4 Gene Contribute to the Genetic Risk of Congenital Heart Disease

Methods: Bioinformatics algorithms were used to analyze single-nucleotide polymorphisms in putative microRNA-binding sites of GATA4 3' UTR and to calculate the difference in free energy of hybridization (Delta FE, kcal/ mol) for each wild-type vs the variant allele.

Introduction and objectives: Single-nucleotide polymorphisms within a microRNA binding site can have different effects on gene expression, influencing the risk of disease. This study aimed to evaluate the association between single-nucleotide polymorphisms and haplotypes in the 3' UTR of the GATA4 gene and congenital heart disease risk.