The copy number variation and stroke (CaNVAS) risk and outcome study

Background and purpose: The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this knowledge gap. Methods: Over 24,500 well-phenotyped IS cases, including IS subtyp...

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Autores: Cole, John W., Jiménez Conde, Jordi, Lazcano Dobao, Uxue, Soriano Tarraga, Carolina, Grond-Ginsbach, Caspar
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Universitat Pompeu Fabra
Repositorio:Repositorio Digital de la UPF
OAI Identifier:oai:repositori.upf.edu:10230/48860
Acceso en línea:http://hdl.handle.net/10230/48860
http://dx.doi.org/10.1371/journal.pone.0248791
Access Level:acceso abierto
Palabra clave:Ischemic stroke
Biomarkers
Genome-wide association studies
Copy number variation
Single nucleotide polymorphisms
Genomics
Microarrays
Consortia
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spelling The copy number variation and stroke (CaNVAS) risk and outcome studyCole, John W.Jiménez Conde, JordiLazcano Dobao, UxueSoriano Tarraga, CarolinaGrond-Ginsbach, CasparIschemic strokeBiomarkersGenome-wide association studiesCopy number variationSingle nucleotide polymorphismsGenomicsMicroarraysConsortiaBackground and purpose: The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this knowledge gap. Methods: Over 24,500 well-phenotyped IS cases, including IS subtypes, and over 43,500 controls have been identified, all with readily available genotyping on GWAS and exome arrays, with case measures of stroke outcome. To evaluate CNV-associated stroke risk and stroke outcome it is planned to: 1) perform Risk Discovery using several analytic approaches to identify CNVs that are associated with the risk of IS and its subtypes, across the age-, sex- and ethnicity-spectrums; 2) perform Risk Replication and Extension to determine whether the identified stroke-associated CNVs replicate in other ethnically diverse datasets and use biomarker data (e.g. methylation, proteomic, RNA, miRNA, etc.) to evaluate how the identified CNVs exert their effects on stroke risk, and lastly; 3) perform outcome-based Replication and Extension analyses of recent findings demonstrating an inverse relationship between CNV burden and stroke outcome at 3 months (mRS), and then determine the key CNV drivers responsible for these associations using existing biomarker data. Results: The results of an initial CNV evaluation of 50 samples from each participating dataset are presented demonstrating that the existing GWAS and exome chip data are excellent for the planned CNV analyses. Further, some samples will require additional considerations for analysis, however such samples can readily be identified, as demonstrated by a sample demonstrating clonal mosaicism. Conclusion: The CaNVAS study will cost-effectively leverage the numerous advantages of using existing case-control data sets, exploring the relationships between CNV and IS and its subtypes, and outcome at 3 months, in both men and women, in those of African and European-Caucasian descent, this, across the entire adult-age spectrum.Public Library of Science (PLoS)202120212021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/48860http://dx.doi.org/10.1371/journal.pone.0248791reponame:Repositorio Digital de la UPFinstname:Universitat Pompeu FabraInglésPLoS One. 2021;16(4):e0248791This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.https://creativecommons.org/publicdomain/zero/1.0/info:eu-repo/semantics/openAccessoai:repositori.upf.edu:10230/488602026-06-12T07:21:37Z
dc.title.none.fl_str_mv The copy number variation and stroke (CaNVAS) risk and outcome study
title The copy number variation and stroke (CaNVAS) risk and outcome study
spellingShingle The copy number variation and stroke (CaNVAS) risk and outcome study
Cole, John W.
Ischemic stroke
Biomarkers
Genome-wide association studies
Copy number variation
Single nucleotide polymorphisms
Genomics
Microarrays
Consortia
title_short The copy number variation and stroke (CaNVAS) risk and outcome study
title_full The copy number variation and stroke (CaNVAS) risk and outcome study
title_fullStr The copy number variation and stroke (CaNVAS) risk and outcome study
title_full_unstemmed The copy number variation and stroke (CaNVAS) risk and outcome study
title_sort The copy number variation and stroke (CaNVAS) risk and outcome study
dc.creator.none.fl_str_mv Cole, John W.
Jiménez Conde, Jordi
Lazcano Dobao, Uxue
Soriano Tarraga, Carolina
Grond-Ginsbach, Caspar
author Cole, John W.
author_facet Cole, John W.
Jiménez Conde, Jordi
Lazcano Dobao, Uxue
Soriano Tarraga, Carolina
Grond-Ginsbach, Caspar
author_role author
author2 Jiménez Conde, Jordi
Lazcano Dobao, Uxue
Soriano Tarraga, Carolina
Grond-Ginsbach, Caspar
author2_role author
author
author
author
dc.subject.none.fl_str_mv Ischemic stroke
Biomarkers
Genome-wide association studies
Copy number variation
Single nucleotide polymorphisms
Genomics
Microarrays
Consortia
topic Ischemic stroke
Biomarkers
Genome-wide association studies
Copy number variation
Single nucleotide polymorphisms
Genomics
Microarrays
Consortia
description Background and purpose: The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this knowledge gap. Methods: Over 24,500 well-phenotyped IS cases, including IS subtypes, and over 43,500 controls have been identified, all with readily available genotyping on GWAS and exome arrays, with case measures of stroke outcome. To evaluate CNV-associated stroke risk and stroke outcome it is planned to: 1) perform Risk Discovery using several analytic approaches to identify CNVs that are associated with the risk of IS and its subtypes, across the age-, sex- and ethnicity-spectrums; 2) perform Risk Replication and Extension to determine whether the identified stroke-associated CNVs replicate in other ethnically diverse datasets and use biomarker data (e.g. methylation, proteomic, RNA, miRNA, etc.) to evaluate how the identified CNVs exert their effects on stroke risk, and lastly; 3) perform outcome-based Replication and Extension analyses of recent findings demonstrating an inverse relationship between CNV burden and stroke outcome at 3 months (mRS), and then determine the key CNV drivers responsible for these associations using existing biomarker data. Results: The results of an initial CNV evaluation of 50 samples from each participating dataset are presented demonstrating that the existing GWAS and exome chip data are excellent for the planned CNV analyses. Further, some samples will require additional considerations for analysis, however such samples can readily be identified, as demonstrated by a sample demonstrating clonal mosaicism. Conclusion: The CaNVAS study will cost-effectively leverage the numerous advantages of using existing case-control data sets, exploring the relationships between CNV and IS and its subtypes, and outcome at 3 months, in both men and women, in those of African and European-Caucasian descent, this, across the entire adult-age spectrum.
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/10230/48860
http://dx.doi.org/10.1371/journal.pone.0248791
url http://hdl.handle.net/10230/48860
http://dx.doi.org/10.1371/journal.pone.0248791
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv PLoS One. 2021;16(4):e0248791
dc.rights.none.fl_str_mv https://creativecommons.org/publicdomain/zero/1.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/publicdomain/zero/1.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Public Library of Science (PLoS)
publisher.none.fl_str_mv Public Library of Science (PLoS)
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
repository.name.fl_str_mv
repository.mail.fl_str_mv
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