Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children

© 2018 The Author(s). Background: Circulating microRNAs (miRNAs) are emerging as novel biomarkers for detecting cardiovascular diseases. In this study, we aimed to investigate the usefulness of miRNAs as biomarkers in diagnosing and predicting children with congenital heart defects (CHD), particula...

Full description

Bibliographic Details
Main Authors: Song, Y., Higgins, H., Guo, J., Harrison, K., Schultz, E., Hales, B., Moses, E., Goldblatt, J., Pachter, N., Zhang, Guicheng
Format: Journal Article
Published: 2018
Online Access:http://hdl.handle.net/20.500.11937/68011
_version_ 1848761718340059136
author Song, Y.
Higgins, H.
Guo, J.
Harrison, K.
Schultz, E.
Hales, B.
Moses, E.
Goldblatt, J.
Pachter, N.
Zhang, Guicheng
author_facet Song, Y.
Higgins, H.
Guo, J.
Harrison, K.
Schultz, E.
Hales, B.
Moses, E.
Goldblatt, J.
Pachter, N.
Zhang, Guicheng
author_sort Song, Y.
building Curtin Institutional Repository
collection Online Access
description © 2018 The Author(s). Background: Circulating microRNAs (miRNAs) are emerging as novel biomarkers for detecting cardiovascular diseases. In this study, we aimed to investigate the usefulness of miRNAs as biomarkers in diagnosing and predicting children with congenital heart defects (CHD), particularly in the context of multiple subtypes of CHD. Methods: We recruited 26 families, each having a child with CHD and parents who do not have any cardiovascular disorder. 27 families unaffected by cardiovascular disease were also included as controls. Firstly, we screened 84 circulating miRNAs relating to cardiovascular development in 6 children with atrial septal defects (ASD) and 5 healthy children. We validated the selected miRNAs with differential expression in a larger sample size (n = 27 for controls, n = 26 for cases), and evaluated their signal in different types of septal defects. Finally, we examined the identified miRNAs signatures in the parent population and assessed their diagnostic values for predicting CHD. Results: The three miRNAs hsa-let-7a, hsa-let-7b and hsa-miR-486 were significantly upregulated in children with ASD. A further validation study showed that overexpression of hsa-let-7a and hsa-let-7b was specifically present in ASD children, but not in children with other subtypes of septal defects. A similar expression profile of hsa-let-7a and hsa-let-7b was discovered in mothers of ASD children. Receiver-operating characteristic curve analyses indicated that hsa-let-7a and hsa-let-7b had significant diagnostic values for detecting ASD and in maternal samples predicting the occurrence of ASD in offspring. Conclusions: Circulating miRNAs are important markers not only for diagnosing CHD, but also for predicting CHD risk in offspring. The distinct miRNA signatures are likely to present in various subtypes of CHD, and the phenotypic heterogeneity of CHD should be considered to develop such miRNA-based assays.
first_indexed 2025-11-14T10:36:07Z
format Journal Article
id curtin-20.500.11937-68011
institution Curtin University Malaysia
institution_category Local University
last_indexed 2025-11-14T10:36:07Z
publishDate 2018
recordtype eprints
repository_type Digital Repository
spelling curtin-20.500.11937-680112018-05-18T08:07:19Z Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children Song, Y. Higgins, H. Guo, J. Harrison, K. Schultz, E. Hales, B. Moses, E. Goldblatt, J. Pachter, N. Zhang, Guicheng © 2018 The Author(s). Background: Circulating microRNAs (miRNAs) are emerging as novel biomarkers for detecting cardiovascular diseases. In this study, we aimed to investigate the usefulness of miRNAs as biomarkers in diagnosing and predicting children with congenital heart defects (CHD), particularly in the context of multiple subtypes of CHD. Methods: We recruited 26 families, each having a child with CHD and parents who do not have any cardiovascular disorder. 27 families unaffected by cardiovascular disease were also included as controls. Firstly, we screened 84 circulating miRNAs relating to cardiovascular development in 6 children with atrial septal defects (ASD) and 5 healthy children. We validated the selected miRNAs with differential expression in a larger sample size (n = 27 for controls, n = 26 for cases), and evaluated their signal in different types of septal defects. Finally, we examined the identified miRNAs signatures in the parent population and assessed their diagnostic values for predicting CHD. Results: The three miRNAs hsa-let-7a, hsa-let-7b and hsa-miR-486 were significantly upregulated in children with ASD. A further validation study showed that overexpression of hsa-let-7a and hsa-let-7b was specifically present in ASD children, but not in children with other subtypes of septal defects. A similar expression profile of hsa-let-7a and hsa-let-7b was discovered in mothers of ASD children. Receiver-operating characteristic curve analyses indicated that hsa-let-7a and hsa-let-7b had significant diagnostic values for detecting ASD and in maternal samples predicting the occurrence of ASD in offspring. Conclusions: Circulating miRNAs are important markers not only for diagnosing CHD, but also for predicting CHD risk in offspring. The distinct miRNA signatures are likely to present in various subtypes of CHD, and the phenotypic heterogeneity of CHD should be considered to develop such miRNA-based assays. 2018 Journal Article http://hdl.handle.net/20.500.11937/68011 10.1186/s12967-018-1411-0 restricted
spellingShingle Song, Y.
Higgins, H.
Guo, J.
Harrison, K.
Schultz, E.
Hales, B.
Moses, E.
Goldblatt, J.
Pachter, N.
Zhang, Guicheng
Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
title Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
title_full Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
title_fullStr Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
title_full_unstemmed Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
title_short Clinical significance of circulating microRNAs as markers in detecting and predicting congenital heart defects in children
title_sort clinical significance of circulating micrornas as markers in detecting and predicting congenital heart defects in children
url http://hdl.handle.net/20.500.11937/68011