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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...

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Autores principales: Spada, Elena, Calzari, Luciano, Corsaro, Luigi, Fazia, Teresa, Mencarelli, Monica, Di Blasio, Anna Maria, Bernardinelli, Luisa, Zangheri, Giulia, Vignali, Michele, Gentilini, Davide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
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.
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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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