Potential clinical value of miR-122 expression and genetic locus variants in pediatric congenital heart disease

Congenital heart disease (CHD) results from abnormal embryonic heart development. Given its steadily escalating prevalence, a more profound understanding of the underlying mechanisms and the exploration of novel interventional modalities have become imperative. To explore the expression profiles of miR-122 and its polymorphic loci rs9966765 and rs17669, as well as their genetic susceptibility and clinical correlations with CHD in children. one hundred fifty-eight children with CHD and 150 healthy controls made up the study sample. Genotyping of the miR-122 single nucleotide polymorphism was done using TaqMan RT-qPCR assays were carried out to measure the expression level of miR-122 in specimen samples. ROC curve analyses were performed to estimate the diagnostic utility of miR-122 in CHD. Multivariate logistic regression models were fitted to explore relevant risk factors linked to childhood CHD. The CHD cohort exhibited significantly lower miR-122 expression. ROC curve analysis demonstrated that this biomarker maintained favorable discriminative performance. Carrying the C allele or the CC genotype at rs9966765 raised CHD risk and was accompanied by lower miR-122 expression. In contrast, rs17669 did not associate with CHD risk or miR-122 levels. Multivariate logistic regression analysis revealed that rs9966765 was significantly associated with CHD and exerted the strongest genetic effect. Serum miR-122 is a promising diagnostic indicator for CHD in children. The rs9966765 C allele and CC genotype significantly elevate CHD risk and are associated with reduced miR-122 expression, while rs17669 appears neutral. These findings establish a credible genetic-epigenetic link in CHD pathogenesis and provide a solid foundation for future validation in larger, subtype-stratified cohorts.