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Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth
Preterm birth (PTB) can be defined as the endpoint of a complex process that could be influenced by maternal and environmental factors. Epigenetics recently emerged as an interesting field of investigation since it represents an important mechanism of regulation. This study evaluates epigenetic impa...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7403978/ https://www.ncbi.nlm.nih.gov/pubmed/32708910 http://dx.doi.org/10.3390/ijms21145044 |
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author | Spada, Elena Calzari, Luciano Corsaro, Luigi Fazia, Teresa Mencarelli, Monica Di Blasio, Anna Maria Bernardinelli, Luisa Zangheri, Giulia Vignali, Michele Gentilini, Davide |
author_facet | Spada, Elena Calzari, Luciano Corsaro, Luigi Fazia, Teresa Mencarelli, Monica Di Blasio, Anna Maria Bernardinelli, Luisa Zangheri, Giulia Vignali, Michele Gentilini, Davide |
author_sort | Spada, Elena |
collection | PubMed |
description | Preterm birth (PTB) can be defined as the endpoint of a complex process that could be influenced by maternal and environmental factors. Epigenetics recently emerged as an interesting field of investigation since it represents an important mechanism of regulation. This study evaluates epigenetic impact of preterm birth on DNA methylation. Genome-wide DNAm was measured using the Illumina 450K array in cord blood samples obtained from 72 full term and 18 preterm newborns. Lymphocyte composition was calculated based on specific epigenetic markers that are present on the 450k array. Differential methylation analysis was performed both at site and region level; moreover, stochastic epigenetic mutations (SEMs) were also evaluated. The study showed significant differences in blood cell composition between the two groups. Moreover, after multiple testing correction, statistically significant differences in DNA methylation levels emerged between the two groups both at site and region levels. Results obtained were compared to those reported by previous EWAS, leading to a list of more consistent genes associated with PTB. Finally, the SEMs analysis revealed that the burden of SEMs resulted significantly higher in the preterm group. In conclusion, PTB resulted associated to specific epigenetic signatures that involve immune system. Moreover, SEMs analysis revealed an increased epigenetic drift at birth in the preterm group. |
format | Online Article Text |
id | pubmed-7403978 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-74039782020-08-11 Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth Spada, Elena Calzari, Luciano Corsaro, Luigi Fazia, Teresa Mencarelli, Monica Di Blasio, Anna Maria Bernardinelli, Luisa Zangheri, Giulia Vignali, Michele Gentilini, Davide Int J Mol Sci Article Preterm birth (PTB) can be defined as the endpoint of a complex process that could be influenced by maternal and environmental factors. Epigenetics recently emerged as an interesting field of investigation since it represents an important mechanism of regulation. This study evaluates epigenetic impact of preterm birth on DNA methylation. Genome-wide DNAm was measured using the Illumina 450K array in cord blood samples obtained from 72 full term and 18 preterm newborns. Lymphocyte composition was calculated based on specific epigenetic markers that are present on the 450k array. Differential methylation analysis was performed both at site and region level; moreover, stochastic epigenetic mutations (SEMs) were also evaluated. The study showed significant differences in blood cell composition between the two groups. Moreover, after multiple testing correction, statistically significant differences in DNA methylation levels emerged between the two groups both at site and region levels. Results obtained were compared to those reported by previous EWAS, leading to a list of more consistent genes associated with PTB. Finally, the SEMs analysis revealed that the burden of SEMs resulted significantly higher in the preterm group. In conclusion, PTB resulted associated to specific epigenetic signatures that involve immune system. Moreover, SEMs analysis revealed an increased epigenetic drift at birth in the preterm group. MDPI 2020-07-17 /pmc/articles/PMC7403978/ /pubmed/32708910 http://dx.doi.org/10.3390/ijms21145044 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Spada, Elena Calzari, Luciano Corsaro, Luigi Fazia, Teresa Mencarelli, Monica Di Blasio, Anna Maria Bernardinelli, Luisa Zangheri, Giulia Vignali, Michele Gentilini, Davide Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth |
title | Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth |
title_full | Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth |
title_fullStr | Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth |
title_full_unstemmed | Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth |
title_short | Epigenome Wide Association and Stochastic Epigenetic Mutation Analysis on Cord Blood of Preterm Birth |
title_sort | epigenome wide association and stochastic epigenetic mutation analysis on cord blood of preterm birth |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7403978/ https://www.ncbi.nlm.nih.gov/pubmed/32708910 http://dx.doi.org/10.3390/ijms21145044 |
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