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Journal of Assisted Reproduction and Genetics
Published in: Journal of Assisted Reproduction and Genetics 5/2015

01-05-2015 | Technological Innovations

MicroRNAs as potential biomarkers for noninvasive detection of fetal trisomy 21

Authors: Ji Hyae Lim, Da Eun Lee, Shin Young Kim, Hyun Jin Kim, Kyeong Sun Kim, You Jung Han, Min Hyoung Kim, Jun Seek Choi, Moon Young Kim, Hyun Mee Ryu, So Yeon Park

Published in: Journal of Assisted Reproduction and Genetics | Issue 5/2015

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Abstract

Purpose

The objective of this study was to discover a panel of microRNAs (miRNAs) as potential biomarkers for noninvasive prenatal testing (NIPT) of trisomy 21 (T21) and to predict the biological functions of identified biomarkers using bioinformatics tools.

Methods

Using microarray-based genome-wide expression profiling, we compared the expression levels of miRNAs in whole blood samples from non-pregnant women, whole blood samples from pregnant women with euploid or T21 fetuses, and placenta samples from euploid or T21 fetuses. We analyzed the differentially expressed miRNAs according to disease and tissue type (P value <0.05 and two-fold expression change). To predict functions of target genes of miRNAs, the functional annotation tools were used.

Results

We identified 299 miRNAs which reasonably separate the whole blood from the placenta. Among the identified miRNAs, 150 miRNAs were up-regulated in the placenta, and 149 miRNAs were down-regulated. Most of the up-regulated miRNAs in the placenta were members of the mir-498, mir-379, and mir-127 clusters. Among the up-regulated miRNAs in the placenta, mir-1973 and mir-3196 were expressed at higher levels in the T21 placenta than in the euploid placenta. The two miRNAs potentially regulate 203 target genes that are involved in development of brain, central nervous system, and nervous system. The genes are significantly associated with T21-related disorder such as congenital abnormalities, mental disorders, and nervous system diseases.

Conclusions

Our study indicates placenta-specific miRNAs that may be potential biomarkers for NIPT of fetal T21 and provides new insights into the molecular mechanisms of T21 via regulation of miRNAs.
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Metadata
Title
MicroRNAs as potential biomarkers for noninvasive detection of fetal trisomy 21
Authors
Ji Hyae Lim
Da Eun Lee
Shin Young Kim
Hyun Jin Kim
Kyeong Sun Kim
You Jung Han
Min Hyoung Kim
Jun Seek Choi
Moon Young Kim
Hyun Mee Ryu
So Yeon Park
Publication date
01-05-2015
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 5/2015
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-015-0429-y

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