Abstract P-552: EVALUATING CIRCULATING PLASMA CIRCULAR RNAS FOR THE DETECTION OF CONGENITAL HEART DISEASE IN CHILDREN

Abstract

Aims & Objectives: We explored differential expression of circulating circular RNAs (circRNAs) from children with congenital heart diseases (CHD) to evaluate their utility as clinical biomarkers. Methods We established a discovery cohort (four CHD cases; four matched healthy controls) and a validation cohort (40 CHD cases; 40 matched healthy controls). Microarray expression analysis was performed on the discovery set to identify candidate circRNAs. Candidates were validated in the validation set. The diagnostic accuracy of circRNAs was determined by ROC analysis. Gene ontology (GO), pathway, and network analyses were performed to predict a network of circRNA/miRNA and target mRNAs related to CHD. Results The top seven significantly differentially expressed CHD-associated circRNAs were validated by RT-PCR in the validation set. Three significantly down-regulated circRNAs were identified: hsa_circRNA_004183, hsa_circRNA_079265, and hsa_circRNA_105039, with AUC values of 0.758, 0.809 and 0.907, respectively; the combination had an AUC of 0.965. An interaction network was constructed of circRNAs, miRNAs, and mRNAs, totaling 43 circRNAs, 9 mRNAs, and 29 miRNAs, which were related to heart development. Conclusions We identified three circRNAs under-expressed in plasma from children with CHD. These circRNAs may be a key in the development of CHD and may serve as novel non-invasive biomarkers for diagnosing CHD in children.