DNA methylation biomarkers of myocardial infarction and cardiovascular disease

Background: The epigenetic landscape underlying cardiovascular disease (CVD) is not completely understood and the clinical value of the identified biomarkers is still limited. We aimed to identify differentially methylated loci associated with acute myocardial infarction (AMI) and assess their valid...

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Authors: Fernández Sanlés, Alba, 1988-, Sayols Baixeras, Sergi, 1988-, Subirana Cachinero, Isaac, Sentí Clapés, Mariano, Pérez-Fernández, Silvia, Castro de Moura, Manuel, Esteller, Manel, Marrugat, Jaume, 1954-, Elosua Llanos, Roberto
Format: article
Status:Published version
Publication Date:2021
Country:España
Institution:Universitat Pompeu Fabra
Repository:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/48409
Online Access:http://hdl.handle.net/10230/48409
http://dx.doi.org/10.1186/s13148-021-01078-6
Access Level:Open access
Keyword:Cardiovascular disease
DNA methylation
Epigenome-wide association study
Myocardial infarction
Predictive biomarkers
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spelling DNA methylation biomarkers of myocardial infarction and cardiovascular diseaseFernández Sanlés, Alba, 1988-Sayols Baixeras, Sergi, 1988-Subirana Cachinero, IsaacSentí Clapés, MarianoPérez-Fernández, SilviaCastro de Moura, ManuelEsteller, ManelMarrugat, Jaume, 1954-Elosua Llanos, RobertoCardiovascular diseaseDNA methylationEpigenome-wide association studyMyocardial infarctionPredictive biomarkersBackground: The epigenetic landscape underlying cardiovascular disease (CVD) is not completely understood and the clinical value of the identified biomarkers is still limited. We aimed to identify differentially methylated loci associated with acute myocardial infarction (AMI) and assess their validity as predictive and causal biomarkers. Results: We designed a case-control, two-stage, epigenome-wide association study on AMI (ndiscovery = 391, nvalidation = 204). DNA methylation was assessed using the Infinium MethylationEPIC BeadChip. We performed a fixed-effects meta-analysis of the two samples. 34 CpGs were associated with AMI. Only 12 of them were available in two independent cohort studies (n ~ 1800 and n ~ 2500) with incident coronary and cardiovascular disease (CHD and CVD, respectively). The Infinium HumanMethylation450 BeadChip was used in those two studies. Four of the 12 CpGs were validated in association with incident CHD: AHRR-mapping cg05575921, PTCD2-mapping cg25769469, intergenic cg21566642 and MPO-mapping cg04988978. We then assessed whether methylation risk scores based on those CpGs improved the predictive capacity of the Framingham risk function, but they did not. Finally, we aimed to study the causality of those associations using a Mendelian randomization approach but only one of the CpGs had a genetic influence and therefore the results were not conclusive. Conclusions: We have identified 34 CpGs related to AMI. These loci highlight the relevance of smoking, lipid metabolism, and inflammation in the biological mechanisms related to AMI. Four were additionally associated with incident CHD and CVD but did not provide additional predictive information.BioMed Central202120212021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/48409http://dx.doi.org/10.1186/s13148-021-01078-6reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésClin Epigenetics. 2021;13(1):86© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/484092026-06-12T07:21:37Z
dc.title.none.fl_str_mv DNA methylation biomarkers of myocardial infarction and cardiovascular disease
title DNA methylation biomarkers of myocardial infarction and cardiovascular disease
spellingShingle DNA methylation biomarkers of myocardial infarction and cardiovascular disease
Fernández Sanlés, Alba, 1988-
Cardiovascular disease
DNA methylation
Epigenome-wide association study
Myocardial infarction
Predictive biomarkers
title_short DNA methylation biomarkers of myocardial infarction and cardiovascular disease
title_full DNA methylation biomarkers of myocardial infarction and cardiovascular disease
title_fullStr DNA methylation biomarkers of myocardial infarction and cardiovascular disease
title_full_unstemmed DNA methylation biomarkers of myocardial infarction and cardiovascular disease
title_sort DNA methylation biomarkers of myocardial infarction and cardiovascular disease
dc.creator.none.fl_str_mv Fernández Sanlés, Alba, 1988-
Sayols Baixeras, Sergi, 1988-
Subirana Cachinero, Isaac
Sentí Clapés, Mariano
Pérez-Fernández, Silvia
Castro de Moura, Manuel
Esteller, Manel
Marrugat, Jaume, 1954-
Elosua Llanos, Roberto
author Fernández Sanlés, Alba, 1988-
author_facet Fernández Sanlés, Alba, 1988-
Sayols Baixeras, Sergi, 1988-
Subirana Cachinero, Isaac
Sentí Clapés, Mariano
Pérez-Fernández, Silvia
Castro de Moura, Manuel
Esteller, Manel
Marrugat, Jaume, 1954-
Elosua Llanos, Roberto
author_role author
author2 Sayols Baixeras, Sergi, 1988-
Subirana Cachinero, Isaac
Sentí Clapés, Mariano
Pérez-Fernández, Silvia
Castro de Moura, Manuel
Esteller, Manel
Marrugat, Jaume, 1954-
Elosua Llanos, Roberto
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Cardiovascular disease
DNA methylation
Epigenome-wide association study
Myocardial infarction
Predictive biomarkers
topic Cardiovascular disease
DNA methylation
Epigenome-wide association study
Myocardial infarction
Predictive biomarkers
description Background: The epigenetic landscape underlying cardiovascular disease (CVD) is not completely understood and the clinical value of the identified biomarkers is still limited. We aimed to identify differentially methylated loci associated with acute myocardial infarction (AMI) and assess their validity as predictive and causal biomarkers. Results: We designed a case-control, two-stage, epigenome-wide association study on AMI (ndiscovery = 391, nvalidation = 204). DNA methylation was assessed using the Infinium MethylationEPIC BeadChip. We performed a fixed-effects meta-analysis of the two samples. 34 CpGs were associated with AMI. Only 12 of them were available in two independent cohort studies (n ~ 1800 and n ~ 2500) with incident coronary and cardiovascular disease (CHD and CVD, respectively). The Infinium HumanMethylation450 BeadChip was used in those two studies. Four of the 12 CpGs were validated in association with incident CHD: AHRR-mapping cg05575921, PTCD2-mapping cg25769469, intergenic cg21566642 and MPO-mapping cg04988978. We then assessed whether methylation risk scores based on those CpGs improved the predictive capacity of the Framingham risk function, but they did not. Finally, we aimed to study the causality of those associations using a Mendelian randomization approach but only one of the CpGs had a genetic influence and therefore the results were not conclusive. Conclusions: We have identified 34 CpGs related to AMI. These loci highlight the relevance of smoking, lipid metabolism, and inflammation in the biological mechanisms related to AMI. Four were additionally associated with incident CHD and CVD but did not provide additional predictive information.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/48409
http://dx.doi.org/10.1186/s13148-021-01078-6
url http://hdl.handle.net/10230/48409
http://dx.doi.org/10.1186/s13148-021-01078-6
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Clin Epigenetics. 2021;13(1):86
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv reponame:Repositorio Digital de la UPF
instname:Universitat Pompeu Fabra
instname_str Universitat Pompeu Fabra
reponame_str Repositorio Digital de la UPF
collection Repositorio Digital de la UPF
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repository.mail.fl_str_mv
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