Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)

Background: Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. However, a small proportion of pediatric patients dev...

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Autores: Davalos, Veronica|||0000-0003-4077-5137, García-Prieto, Carlos A.|||0000-0001-5021-6916, Ferrer, Gerardo|||0000-0002-4084-6815, Aguilera-Albesa, Sergio|||0000-0003-3540-1448, Valencia-Ramos, Juan, Rodríguez-Palmero, Agustí|||0000-0002-4141-5515, Ruiz, Montserrat|||0000-0003-0466-2653, Planas-Serra, Laura|||0000-0002-2586-0897, Jordán García, Iolanda|||0000-0002-2041-4425, Alegría, Iosune, Flores-Pérez, Patricia|||0000-0003-2321-395X, Cantarín, Verónica, Fumadó, Victoria, Viadero, Maria Teresa, Rodrigo Gonzalo de Líria, Carlos|||0000-0003-1140-2585, Méndez-Hernández, Maria, López-Granados, Eduardo, Colobrán Oriol, Roger|||0000-0002-5964-536X, Rivière, Jacques G.|||0000-0003-1055-2063, Soler-Palacín, Pere|||0000-0002-0346-5570, Pujol, Aurora|||0000-0002-9606-0600, Esteller, M.|||0000-0003-4490-6093
Tipo de documento: artigo
Data de publicação:2022
País:España
Recursos:Universitat Autònoma de Barcelona
Repositório:Dipòsit Digital de Documents de la UAB
Idioma:inglês
OAI Identifier:oai:ddd.uab.cat:270654
Acesso em linha:https://ddd.uab.cat/record/270654
https://dx.doi.org/urn:doi:10.1016/j.eclinm.2022.101515
Access Level:Acceso aberto
Palavra-chave:Multisystem inflammatory syndrome in children
COVID-19
Kawasaki disease
Epigenetics
DNA methylation
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oai_identifier_str oai:ddd.uab.cat:270654
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network_name_str España
repository_id_str
dc.title.none.fl_str_mv Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
A multicenter, retrospective study
title Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
spellingShingle Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
Davalos, Veronica|||0000-0003-4077-5137
Multisystem inflammatory syndrome in children
COVID-19
Kawasaki disease
Epigenetics
DNA methylation
title_short Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
title_full Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
title_fullStr Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
title_full_unstemmed Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
title_sort Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)
dc.creator.none.fl_str_mv Davalos, Veronica|||0000-0003-4077-5137
García-Prieto, Carlos A.|||0000-0001-5021-6916
Ferrer, Gerardo|||0000-0002-4084-6815
Aguilera-Albesa, Sergio|||0000-0003-3540-1448
Valencia-Ramos, Juan
Rodríguez-Palmero, Agustí|||0000-0002-4141-5515
Ruiz, Montserrat|||0000-0003-0466-2653
Planas-Serra, Laura|||0000-0002-2586-0897
Jordán García, Iolanda|||0000-0002-2041-4425
Alegría, Iosune
Flores-Pérez, Patricia|||0000-0003-2321-395X
Cantarín, Verónica
Fumadó, Victoria
Viadero, Maria Teresa
Rodrigo Gonzalo de Líria, Carlos|||0000-0003-1140-2585
Méndez-Hernández, Maria
López-Granados, Eduardo
Colobrán Oriol, Roger|||0000-0002-5964-536X
Rivière, Jacques G.|||0000-0003-1055-2063
Soler-Palacín, Pere|||0000-0002-0346-5570
Pujol, Aurora|||0000-0002-9606-0600
Esteller, M.|||0000-0003-4490-6093
author Davalos, Veronica|||0000-0003-4077-5137
author_facet Davalos, Veronica|||0000-0003-4077-5137
García-Prieto, Carlos A.|||0000-0001-5021-6916
Ferrer, Gerardo|||0000-0002-4084-6815
Aguilera-Albesa, Sergio|||0000-0003-3540-1448
Valencia-Ramos, Juan
Rodríguez-Palmero, Agustí|||0000-0002-4141-5515
Ruiz, Montserrat|||0000-0003-0466-2653
Planas-Serra, Laura|||0000-0002-2586-0897
Jordán García, Iolanda|||0000-0002-2041-4425
Alegría, Iosune
Flores-Pérez, Patricia|||0000-0003-2321-395X
Cantarín, Verónica
Fumadó, Victoria
Viadero, Maria Teresa
Rodrigo Gonzalo de Líria, Carlos|||0000-0003-1140-2585
Méndez-Hernández, Maria
López-Granados, Eduardo
Colobrán Oriol, Roger|||0000-0002-5964-536X
Rivière, Jacques G.|||0000-0003-1055-2063
Soler-Palacín, Pere|||0000-0002-0346-5570
Pujol, Aurora|||0000-0002-9606-0600
Esteller, M.|||0000-0003-4490-6093
author_role author
author2 García-Prieto, Carlos A.|||0000-0001-5021-6916
Ferrer, Gerardo|||0000-0002-4084-6815
Aguilera-Albesa, Sergio|||0000-0003-3540-1448
Valencia-Ramos, Juan
Rodríguez-Palmero, Agustí|||0000-0002-4141-5515
Ruiz, Montserrat|||0000-0003-0466-2653
Planas-Serra, Laura|||0000-0002-2586-0897
Jordán García, Iolanda|||0000-0002-2041-4425
Alegría, Iosune
Flores-Pérez, Patricia|||0000-0003-2321-395X
Cantarín, Verónica
Fumadó, Victoria
Viadero, Maria Teresa
Rodrigo Gonzalo de Líria, Carlos|||0000-0003-1140-2585
Méndez-Hernández, Maria
López-Granados, Eduardo
Colobrán Oriol, Roger|||0000-0002-5964-536X
Rivière, Jacques G.|||0000-0003-1055-2063
Soler-Palacín, Pere|||0000-0002-0346-5570
Pujol, Aurora|||0000-0002-9606-0600
Esteller, M.|||0000-0003-4490-6093
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva
dc.subject.none.fl_str_mv Multisystem inflammatory syndrome in children
COVID-19
Kawasaki disease
Epigenetics
DNA methylation
topic Multisystem inflammatory syndrome in children
COVID-19
Kawasaki disease
Epigenetics
DNA methylation
description Background: Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. However, a small proportion of pediatric patients develop a severe clinical condition, multisystem inflammatory syndrome in children (MIS-C). The involvement of epigenetics in the control of the immune response and viral activity prompted us to carry out an epigenomic study to uncover target loci regulated by DNA methylation that could be altered upon the appearance of MIS-C. Methods: Peripheral blood samples were recruited from 43 confirmed MIS-C patients. 69 non-COVID-19 pediatric samples and 15 COVID-19 pediatric samples without MIS-C were used as controls. The cases in the two groups were mixed and divided into discovery (MIS-C = 29 and non-MIS-C = 56) and validation (MIS-C = 14 and non-MIS-C = 28) cohorts, and balanced for age, gender and ethnic background. We interrogated 850,000 CpG sites of the human genome for DNA methylation variants. Findings: The DNA methylation content of 33 CpG loci was linked with the presence of MIS-C. Of these sites, 18 (54.5%) were located in described genes. The top candidate gene was the immune T-cell mediator ZEB2; and others highly ranked candidates included the regulator of natural killer cell functional competence SH2D1B; VWA8, which contains a domain of the Von Willebrand factor A involved in the pediatric hemostasis disease; and human leukocyte antigen complex member HLA-DRB1; in addition to pro-inflammatory genes such as CUL2 and AIM2. The identified loci were used to construct a DNA methylation profile (EPIMISC) that was associated with MIS-C in both cohorts. The EPIMISC signature was also overrepresented in Kawasaki disease patients, a childhood pathology with a possible viral trigger, that shares many of the clinical features of MIS-C. Interpretation: We have characterized DNA methylation loci that are associated with MIS-C diagnosis. The identified genes are likely contributors to the characteristic exaggerated host inflammatory response observed in these patients. The described epigenetic signature could also provide new targets for more specific therapies for the disorder.
publishDate 2022
dc.date.none.fl_str_mv 2
2022-01-01
2022
2022-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/270654
https://dx.doi.org/urn:doi:10.1016/j.eclinm.2022.101515
url https://ddd.uab.cat/record/270654
https://dx.doi.org/urn:doi:10.1016/j.eclinm.2022.101515
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
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rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C)A multicenter, retrospective studyDavalos, Veronica|||0000-0003-4077-5137García-Prieto, Carlos A.|||0000-0001-5021-6916Ferrer, Gerardo|||0000-0002-4084-6815Aguilera-Albesa, Sergio|||0000-0003-3540-1448Valencia-Ramos, JuanRodríguez-Palmero, Agustí|||0000-0002-4141-5515Ruiz, Montserrat|||0000-0003-0466-2653Planas-Serra, Laura|||0000-0002-2586-0897Jordán García, Iolanda|||0000-0002-2041-4425Alegría, IosuneFlores-Pérez, Patricia|||0000-0003-2321-395XCantarín, VerónicaFumadó, VictoriaViadero, Maria TeresaRodrigo Gonzalo de Líria, Carlos|||0000-0003-1140-2585Méndez-Hernández, MariaLópez-Granados, EduardoColobrán Oriol, Roger|||0000-0002-5964-536XRivière, Jacques G.|||0000-0003-1055-2063Soler-Palacín, Pere|||0000-0002-0346-5570Pujol, Aurora|||0000-0002-9606-0600Esteller, M.|||0000-0003-4490-6093Multisystem inflammatory syndrome in childrenCOVID-19Kawasaki diseaseEpigeneticsDNA methylationBackground: Most children and adolescents infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remain asymptomatic or develop a mild coronavirus disease 2019 (COVID-19) that usually does not require medical intervention. However, a small proportion of pediatric patients develop a severe clinical condition, multisystem inflammatory syndrome in children (MIS-C). The involvement of epigenetics in the control of the immune response and viral activity prompted us to carry out an epigenomic study to uncover target loci regulated by DNA methylation that could be altered upon the appearance of MIS-C. Methods: Peripheral blood samples were recruited from 43 confirmed MIS-C patients. 69 non-COVID-19 pediatric samples and 15 COVID-19 pediatric samples without MIS-C were used as controls. The cases in the two groups were mixed and divided into discovery (MIS-C = 29 and non-MIS-C = 56) and validation (MIS-C = 14 and non-MIS-C = 28) cohorts, and balanced for age, gender and ethnic background. We interrogated 850,000 CpG sites of the human genome for DNA methylation variants. Findings: The DNA methylation content of 33 CpG loci was linked with the presence of MIS-C. Of these sites, 18 (54.5%) were located in described genes. The top candidate gene was the immune T-cell mediator ZEB2; and others highly ranked candidates included the regulator of natural killer cell functional competence SH2D1B; VWA8, which contains a domain of the Von Willebrand factor A involved in the pediatric hemostasis disease; and human leukocyte antigen complex member HLA-DRB1; in addition to pro-inflammatory genes such as CUL2 and AIM2. The identified loci were used to construct a DNA methylation profile (EPIMISC) that was associated with MIS-C in both cohorts. The EPIMISC signature was also overrepresented in Kawasaki disease patients, a childhood pathology with a possible viral trigger, that shares many of the clinical features of MIS-C. Interpretation: We have characterized DNA methylation loci that are associated with MIS-C diagnosis. The identified genes are likely contributors to the characteristic exaggerated host inflammatory response observed in these patients. The described epigenetic signature could also provide new targets for more specific therapies for the disorder.Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva 22022-01-0120222022-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/270654https://dx.doi.org/urn:doi:10.1016/j.eclinm.2022.101515reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2706542026-06-06T12:50:31Z
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