Identification of microRNAs present in congenital heart disease associated copy number variants

Congenital heart disease (CHD) is the most common congenital anomaly in newborns and about 1.35 million infants are born with CHD each year worldwide. Recently a large category of copy number variants (CNVs), were established to be a major contributor of the pathophysiology of CHD. To date most studies focused on the analysis of CNV categories or the protein coding regions without investigation on the impact of non-coding regulatory microRNAs (miRNAs).

Here with an array comparative genome hybridisation data set and a gene expression profile data set, we investigated the contribution of miRNAs in CNVs towards the development of CHD.

Approximately 18% of the identified high frequency CNV loci were shown to harbor miRNAs. According the expression profile analysis, 52 target genes of 16 miRNAs showed association with CHD. Targets of hsa-miR-650 was reported to be enriched with genes of cardiac dysfunctions and heart failure categories previously. In the constructed network, all 12 miRNAs directly or indirectly interacts with CHD related genes and hsa-miR-570 showed the highest degree.

Our study highlights the significance of CNV-microRNAs and their target genes in the pathogenesis of CHD. This knowledge will facilitate the identification of miRNA biomarkers and the development of new therapeutics for CHD.