Maternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsia

Abstract Background Differential gene expression analysis is important to understand pregnancy processes and disease development. However, no non-invasive and comprehensive methods exist to identify differentially expressed genes (DEGs) in the fetus and placenta during pregnancy or pregnancy complic...

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Main Authors: Kun Li, Zhiwei Guo, Fenxia Li, Shijing Lu, Min Zhang, Xingyu Wei, Chao Sheng, Wenbo Hao, Xuexi Yang
Format: Article
Language:English
Published: BMC 2025-03-01
Series:BMC Pregnancy and Childbirth
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Online Access:https://doi.org/10.1186/s12884-025-07453-y
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author Kun Li
Zhiwei Guo
Fenxia Li
Shijing Lu
Min Zhang
Xingyu Wei
Chao Sheng
Wenbo Hao
Xuexi Yang
author_facet Kun Li
Zhiwei Guo
Fenxia Li
Shijing Lu
Min Zhang
Xingyu Wei
Chao Sheng
Wenbo Hao
Xuexi Yang
author_sort Kun Li
collection DOAJ
description Abstract Background Differential gene expression analysis is important to understand pregnancy processes and disease development. However, no non-invasive and comprehensive methods exist to identify differentially expressed genes (DEGs) in the fetus and placenta during pregnancy or pregnancy complications. Nucleosome footprints in maternal peripheral blood plasma cell-free DNA (cfDNA) reflect the gene expression profile of the cell of origin, mainly immune cells in the maternal blood and placenta. This study aimed to validate the feasibility of detecting changes in gene expression profiles as differentially depth gene (DDGs) based on plasma nucleosome footprints as a potential biomarker for pregnancy and pre-eclampsia. Methods Deep sequencing was performed on separated plasma cfDNA collected from 34 women, including eight non-pregnant women, 14 healthy pregnant women, and 12 pre-eclamptic pregnant women. The number of reads in the promoter region of each gene was extracted and normalized. Normalized depths of genes were compared between healthy pregnant vs. non-pregnant women, all pregnant women vs. non-pregnant women, and healthy pregnant women vs. pre-eclamptic pregnant women using the Wilcoxon rank-sum test to identify statistically significant DDGs. The roles of these genes were identified by functional enrichment analysis using gene ontology. Results Plasma cfDNA revealed different nucleosome footprints in preeclampsia pregnant, healthy pregnant, and non-pregnant women. Gene annotation revealed that the functions of 629 DDGs in pregnant and non-pregnant women mainly involved immune regulation, regardless of pre-eclampsia. 1978 DDGs between healthy pregnant and pre-eclamptic pregnant women displayed differences in immune regulation, cell cycle regulation, and sensory perception. These results are consistent with prior microarray and RNA-sequencing data. Conclusions The depth of the cfDNA nucleosome footprint in maternal plasma can be used to reflect changes in the gene expression profile during pregnancy and pre-eclampsia. The plasma cfDNA nucleosome footprint is a potential non-invasive biomarker for pregnancy and placental-origin pregnancy complications.
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spelling doaj-art-db8893c5e5e248819c872d3f87b90ab12025-08-20T02:41:36ZengBMCBMC Pregnancy and Childbirth1471-23932025-03-012511910.1186/s12884-025-07453-yMaternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsiaKun Li0Zhiwei Guo1Fenxia Li2Shijing Lu3Min Zhang4Xingyu Wei5Chao Sheng6Wenbo Hao7Xuexi Yang8Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical UniversityInstitute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical UniversityDepartment of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical UniversityDepartment of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical UniversityInstitute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical UniversityInstitute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical UniversityDepartment of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical UniversityInstitute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical UniversityInstitute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical UniversityAbstract Background Differential gene expression analysis is important to understand pregnancy processes and disease development. However, no non-invasive and comprehensive methods exist to identify differentially expressed genes (DEGs) in the fetus and placenta during pregnancy or pregnancy complications. Nucleosome footprints in maternal peripheral blood plasma cell-free DNA (cfDNA) reflect the gene expression profile of the cell of origin, mainly immune cells in the maternal blood and placenta. This study aimed to validate the feasibility of detecting changes in gene expression profiles as differentially depth gene (DDGs) based on plasma nucleosome footprints as a potential biomarker for pregnancy and pre-eclampsia. Methods Deep sequencing was performed on separated plasma cfDNA collected from 34 women, including eight non-pregnant women, 14 healthy pregnant women, and 12 pre-eclamptic pregnant women. The number of reads in the promoter region of each gene was extracted and normalized. Normalized depths of genes were compared between healthy pregnant vs. non-pregnant women, all pregnant women vs. non-pregnant women, and healthy pregnant women vs. pre-eclamptic pregnant women using the Wilcoxon rank-sum test to identify statistically significant DDGs. The roles of these genes were identified by functional enrichment analysis using gene ontology. Results Plasma cfDNA revealed different nucleosome footprints in preeclampsia pregnant, healthy pregnant, and non-pregnant women. Gene annotation revealed that the functions of 629 DDGs in pregnant and non-pregnant women mainly involved immune regulation, regardless of pre-eclampsia. 1978 DDGs between healthy pregnant and pre-eclamptic pregnant women displayed differences in immune regulation, cell cycle regulation, and sensory perception. These results are consistent with prior microarray and RNA-sequencing data. Conclusions The depth of the cfDNA nucleosome footprint in maternal plasma can be used to reflect changes in the gene expression profile during pregnancy and pre-eclampsia. The plasma cfDNA nucleosome footprint is a potential non-invasive biomarker for pregnancy and placental-origin pregnancy complications.https://doi.org/10.1186/s12884-025-07453-yDeep sequencingPre-eclampsiaDifferential analysisCfDNANucleosome footprint
spellingShingle Kun Li
Zhiwei Guo
Fenxia Li
Shijing Lu
Min Zhang
Xingyu Wei
Chao Sheng
Wenbo Hao
Xuexi Yang
Maternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsia
BMC Pregnancy and Childbirth
Deep sequencing
Pre-eclampsia
Differential analysis
CfDNA
Nucleosome footprint
title Maternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsia
title_full Maternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsia
title_fullStr Maternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsia
title_full_unstemmed Maternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsia
title_short Maternal plasma cell-free DNA nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre-eclampsia
title_sort maternal plasma cell free dna nucleosome footprints can reveal changes in gene expression profiles during pregnancy and pre eclampsia
topic Deep sequencing
Pre-eclampsia
Differential analysis
CfDNA
Nucleosome footprint
url https://doi.org/10.1186/s12884-025-07453-y
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