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Identification of 20 novel loci associated with ischaemic stroke. Epigenome-wide association study.

dc.contributor.authorSoriano-Tarraga, Carolina
dc.contributor.authorLazcano, Uxue
dc.contributor.authorGiralt-Steinhauer, Eva
dc.contributor.authorAvellaneda-Gomez, Carla
dc.contributor.authorOis, Angel
dc.contributor.authorRodriguez-Campello, Ana
dc.contributor.authorCuadrado-Godia, Elisa
dc.contributor.authorGomez-Gonzalez, Alejandra
dc.contributor.authorFernandez-Sanles, Alba
dc.contributor.authorElosua, Roberto
dc.contributor.authorFernandez-Cadenas, Israel
dc.contributor.authorCullell, Natalia
dc.contributor.authorMontaner, Joan
dc.contributor.authorMoran, Sebastian
dc.contributor.authorEsteller, Manel
dc.contributor.authorJimenez-Conde, Jordi
dc.contributor.authorRoquer, Jaume
dc.contributor.funderSpain’s Ministry of Health (Ministerio de Sanidad y Consumo) through the Carlos III Health Institute
dc.contributor.funderNVICTUS-PLUS, Instituto de Salud Carlos III RETIC
dc.contributor.funderSpanish Ministry of Economy and Competitiveness
dc.date.accessioned2023-02-08T14:43:53Z
dc.date.available2023-02-08T14:43:53Z
dc.date.issued2020
dc.description.abstractDNA methylation is dynamic, varies throughout the life course, and its levels are influenced by lifestyle and environmental factors, as well as by genetic variation. The leading genetic variants at stroke risk loci identified to date explain roughly 1-2% of stroke heritability. Most of these single nucleotide polymorphisms are situated within a regulatory sequence marked by DNase I hypersensitivity sites, which would indicate involvement of an epigenetic mechanism. To detect epigenetic variants associated with stroke occurrence and stroke subtypes. A two-stage case-control epigenome-wide association study was designed. The discovery sample with 401 samples included 218 ischaemic stroke (IS) patients, assessed at Hospital del Mar (Barcelona, Spain) and 183 controls from the REGICOR cohort. In two independent samples (N = 226 and N = 166), we replicated 22 CpG sites differentially methylated in IS in 21 loci, including 2 CpGs in locus ZFHX3, which includes known genetic variants associated with stroke. The pathways associated with these loci are inflammation and angiogenesis. The meta-analysis identified 384 differentially methylated CpGs, including loci of known stroke and vascular risk genetic variants, enriched by loci involved in lipid metabolism, adipogenesis, circadian clock, and glycolysis pathways. We identified a set of 22 CpGs in 21 loci associated with IS. Our analysis suggests that DNA methylation changes may contribute to orchestrating gene expression that contributes to IS.
dc.description.versionSi
dc.identifier.citationSoriano-Tárraga C, Lazcano U, Giralt-Steinhauer E, Avellaneda-Gómez C, Ois Á, Rodríguez-Campello A, et al. Identification of 20 novel loci associated with ischaemic stroke. Epigenome-wide association study. Epigenetics. 2020 Sep;15(9):988-997.
dc.identifier.doi10.1080/15592294.2020.1746507
dc.identifier.essn1559-2308
dc.identifier.pmcPMC7518691
dc.identifier.pmid32202197
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518691/pdf
dc.identifier.unpaywallURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518691
dc.identifier.urihttp://hdl.handle.net/10668/15274
dc.issue.number9
dc.journal.titleEpigenetics
dc.journal.titleabbreviationEpigenetics
dc.language.isoen
dc.organizationInstituto de Biomedicina de Sevilla-IBIS
dc.organizationHospital Universitario Virgen del Rocío
dc.organizationHospital Universitario Virgen Macarena
dc.page.number988-997
dc.provenanceRealizada la curación de contenido 29/05/2025.
dc.publisherTaylor & Francis Inc.
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.relation.projectIDBES-2014–069718
dc.relation.projectIDRD16/0019/0002
dc.relation.projectIDPI12/01238
dc.relation.projectIDPI15/00451
dc.relation.projectIDPI15/0044
dc.relation.projectIDPI15/00051
dc.relation.projectIDRD16/0019/0002
dc.relation.publisherversionhttps://www.tandfonline.com/doi/10.1080/15592294.2020.1746507?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
dc.rights.accessRightsRestricted Access
dc.subjectDNA methylation
dc.subjectEWAS
dc.subjectIschaemic stroke
dc.subject.decsAccidente cerebrovascular
dc.subject.decsEpigenómica
dc.subject.decsExpresión génica
dc.subject.decsDesoxirribonucleasa I
dc.subject.decsGlucólisis
dc.subject.decsMetabolismo de los lípidos
dc.subject.meshAged
dc.subject.meshCpG Islands
dc.subject.meshDNA Methylation
dc.subject.meshEpigenome
dc.subject.meshFemale
dc.subject.meshGenetic Loci
dc.subject.meshHomeodomain Proteins
dc.subject.meshHumans
dc.subject.meshIschemic Stroke
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.titleIdentification of 20 novel loci associated with ischaemic stroke. Epigenome-wide association study.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number15
dspace.entity.typePublication

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