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Reproductive Biology and Endocrinology
Published in: Reproductive Biology and Endocrinology 1/2021

Open Access 01-12-2021 | Premature Birth | Research

Whole blood RNA sequencing reveals a differential transcriptomic profile associated with cervical insufficiency: a pilot study

Authors: Ga-Hyun Son, So Yeon Choi, Yeon-Ji Ju, Keun-Young Lee, Jae Jun Lee, Ji-Eun Song, Youngmi Kim, Sung Taek Park

Published in: Reproductive Biology and Endocrinology | Issue 1/2021

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Abstract

Background

The uterine cervix is a mechanical and immunological barrier against ascending infection during pregnancy. Cervical insufficiency (CI), a painless cervical dilation that occurs in the mid-trimester, is an important cause of extremely preterm birth. We hypothesized that women with CI have a differential transcriptomic profile. Therefore, we compared the transcriptomic profile of peripheral blood in women with CI and that of controls.

Methods

RNA sequencing was used to generate the global gene expression profiles of 11 women with CI and 4 controls, and differential expression analysis was performed to identify genes showing significant expression changes between the CI (n = 11) and control (n = 4) groups as well as between the CI-preterm (n = 7) and CI-term (n = 4) groups. Gene set enrichment was assessed in terms of Gene Ontology processes, and a subset of differentially expressed genes in CI was validated in a different sample-set by qRT-PCR and ELISA.

Results

Thirty genes were differentially expressed between the CI and control groups. Differentially upregulated genes in the CI group included neutrophil-mediated immunity-associated (DEFA3 and ELANE) and bicarbonate transport-related genes. The serum concentration of alpha defensin 3 was significantly higher in women with CI than in controls (P = 0.014). Analysis of differential gene expression according to pregnancy outcomes revealed 338 differentially expressed genes between the CI-term and CI-preterm groups. Immune and defense response to organism-associated genes and influenza A and NOD-like receptor signaling pathways were upregulated in the CI-term group.

Conclusions

Our results revealed significant differences in the whole blood transcriptomic profiles of women with CI compared to those of controls. Different immune responses in women with CI may affect pregnancy outcomes.
Appendix
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Metadata
Title
Whole blood RNA sequencing reveals a differential transcriptomic profile associated with cervical insufficiency: a pilot study
Authors
Ga-Hyun Son
So Yeon Choi
Yeon-Ji Ju
Keun-Young Lee
Jae Jun Lee
Ji-Eun Song
Youngmi Kim
Sung Taek Park
Publication date
01-12-2021
Publisher
BioMed Central
Keyword
Premature Birth
Published in
Reproductive Biology and Endocrinology / Issue 1/2021
Electronic ISSN: 1477-7827
DOI
https://doi.org/10.1186/s12958-021-00715-2

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