The copy number variation and stroke (CaNVAS) risk and outcome study.
<h4>Background and purpose</h4>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.<h4>Methods</h4>Over 24,500 well-phe...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/048e7ee362064d80abc4e0480d4c47ac |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:048e7ee362064d80abc4e0480d4c47ac |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:048e7ee362064d80abc4e0480d4c47ac2021-12-02T20:07:21ZThe copy number variation and stroke (CaNVAS) risk and outcome study.1932-620310.1371/journal.pone.0248791https://doaj.org/article/048e7ee362064d80abc4e0480d4c47ac2021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0248791https://doaj.org/toc/1932-6203<h4>Background and purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>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.John W ColeTaiwo AdigunRufus AkinyemiOnoja Matthew AkpaSteven BellBowang ChenJordi Jimenez CondeUxue Lazcano DobaoIsrael FernandezMyriam FornageCristina Gallego-FabregaChristina JernMichael KrawczakArne LindgrenHugh S MarkusOlle MelanderMayowa OwolabiKristina SchlichtMartin SöderholmVinodh SrinivasasainagendraCarolina Soriano TárragaMartin StenmanHemant TiwariMargaret CorasanitiNatalie FecteauBeth GuizzardiHaley LopezKevin NguyenBrady GaynorTimothy O'ConnorO Colin StineSteven J KittnerPatrick McArdleBraxton D MitchellHuichun XuCaspar Grond-GinsbachPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 4, p e0248791 (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q John W Cole Taiwo Adigun Rufus Akinyemi Onoja Matthew Akpa Steven Bell Bowang Chen Jordi Jimenez Conde Uxue Lazcano Dobao Israel Fernandez Myriam Fornage Cristina Gallego-Fabrega Christina Jern Michael Krawczak Arne Lindgren Hugh S Markus Olle Melander Mayowa Owolabi Kristina Schlicht Martin Söderholm Vinodh Srinivasasainagendra Carolina Soriano Tárraga Martin Stenman Hemant Tiwari Margaret Corasaniti Natalie Fecteau Beth Guizzardi Haley Lopez Kevin Nguyen Brady Gaynor Timothy O'Connor O Colin Stine Steven J Kittner Patrick McArdle Braxton D Mitchell Huichun Xu Caspar Grond-Ginsbach The copy number variation and stroke (CaNVAS) risk and outcome study. |
| description |
<h4>Background and purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>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. |
| format |
article |
| author |
John W Cole Taiwo Adigun Rufus Akinyemi Onoja Matthew Akpa Steven Bell Bowang Chen Jordi Jimenez Conde Uxue Lazcano Dobao Israel Fernandez Myriam Fornage Cristina Gallego-Fabrega Christina Jern Michael Krawczak Arne Lindgren Hugh S Markus Olle Melander Mayowa Owolabi Kristina Schlicht Martin Söderholm Vinodh Srinivasasainagendra Carolina Soriano Tárraga Martin Stenman Hemant Tiwari Margaret Corasaniti Natalie Fecteau Beth Guizzardi Haley Lopez Kevin Nguyen Brady Gaynor Timothy O'Connor O Colin Stine Steven J Kittner Patrick McArdle Braxton D Mitchell Huichun Xu Caspar Grond-Ginsbach |
| author_facet |
John W Cole Taiwo Adigun Rufus Akinyemi Onoja Matthew Akpa Steven Bell Bowang Chen Jordi Jimenez Conde Uxue Lazcano Dobao Israel Fernandez Myriam Fornage Cristina Gallego-Fabrega Christina Jern Michael Krawczak Arne Lindgren Hugh S Markus Olle Melander Mayowa Owolabi Kristina Schlicht Martin Söderholm Vinodh Srinivasasainagendra Carolina Soriano Tárraga Martin Stenman Hemant Tiwari Margaret Corasaniti Natalie Fecteau Beth Guizzardi Haley Lopez Kevin Nguyen Brady Gaynor Timothy O'Connor O Colin Stine Steven J Kittner Patrick McArdle Braxton D Mitchell Huichun Xu Caspar Grond-Ginsbach |
| author_sort |
John W Cole |
| title |
The copy number variation and stroke (CaNVAS) risk and outcome study. |
| 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 |
copy number variation and stroke (canvas) risk and outcome study. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2021 |
| url |
https://doaj.org/article/048e7ee362064d80abc4e0480d4c47ac |
| work_keys_str_mv |
AT johnwcole thecopynumbervariationandstrokecanvasriskandoutcomestudy AT taiwoadigun thecopynumbervariationandstrokecanvasriskandoutcomestudy AT rufusakinyemi thecopynumbervariationandstrokecanvasriskandoutcomestudy AT onojamatthewakpa thecopynumbervariationandstrokecanvasriskandoutcomestudy AT stevenbell thecopynumbervariationandstrokecanvasriskandoutcomestudy AT bowangchen thecopynumbervariationandstrokecanvasriskandoutcomestudy AT jordijimenezconde thecopynumbervariationandstrokecanvasriskandoutcomestudy AT uxuelazcanodobao thecopynumbervariationandstrokecanvasriskandoutcomestudy AT israelfernandez thecopynumbervariationandstrokecanvasriskandoutcomestudy AT myriamfornage thecopynumbervariationandstrokecanvasriskandoutcomestudy AT cristinagallegofabrega thecopynumbervariationandstrokecanvasriskandoutcomestudy AT christinajern thecopynumbervariationandstrokecanvasriskandoutcomestudy AT michaelkrawczak thecopynumbervariationandstrokecanvasriskandoutcomestudy AT arnelindgren thecopynumbervariationandstrokecanvasriskandoutcomestudy AT hughsmarkus thecopynumbervariationandstrokecanvasriskandoutcomestudy AT ollemelander thecopynumbervariationandstrokecanvasriskandoutcomestudy AT mayowaowolabi thecopynumbervariationandstrokecanvasriskandoutcomestudy AT kristinaschlicht thecopynumbervariationandstrokecanvasriskandoutcomestudy AT martinsoderholm thecopynumbervariationandstrokecanvasriskandoutcomestudy AT vinodhsrinivasasainagendra thecopynumbervariationandstrokecanvasriskandoutcomestudy AT carolinasorianotarraga thecopynumbervariationandstrokecanvasriskandoutcomestudy AT martinstenman thecopynumbervariationandstrokecanvasriskandoutcomestudy AT hemanttiwari thecopynumbervariationandstrokecanvasriskandoutcomestudy AT margaretcorasaniti thecopynumbervariationandstrokecanvasriskandoutcomestudy AT nataliefecteau thecopynumbervariationandstrokecanvasriskandoutcomestudy AT bethguizzardi thecopynumbervariationandstrokecanvasriskandoutcomestudy AT haleylopez thecopynumbervariationandstrokecanvasriskandoutcomestudy AT kevinnguyen thecopynumbervariationandstrokecanvasriskandoutcomestudy AT bradygaynor thecopynumbervariationandstrokecanvasriskandoutcomestudy AT timothyoconnor thecopynumbervariationandstrokecanvasriskandoutcomestudy AT ocolinstine thecopynumbervariationandstrokecanvasriskandoutcomestudy AT stevenjkittner thecopynumbervariationandstrokecanvasriskandoutcomestudy AT patrickmcardle thecopynumbervariationandstrokecanvasriskandoutcomestudy AT braxtondmitchell thecopynumbervariationandstrokecanvasriskandoutcomestudy AT huichunxu thecopynumbervariationandstrokecanvasriskandoutcomestudy AT caspargrondginsbach thecopynumbervariationandstrokecanvasriskandoutcomestudy AT johnwcole copynumbervariationandstrokecanvasriskandoutcomestudy AT taiwoadigun copynumbervariationandstrokecanvasriskandoutcomestudy AT rufusakinyemi copynumbervariationandstrokecanvasriskandoutcomestudy AT onojamatthewakpa copynumbervariationandstrokecanvasriskandoutcomestudy AT stevenbell copynumbervariationandstrokecanvasriskandoutcomestudy AT bowangchen copynumbervariationandstrokecanvasriskandoutcomestudy AT jordijimenezconde copynumbervariationandstrokecanvasriskandoutcomestudy AT uxuelazcanodobao copynumbervariationandstrokecanvasriskandoutcomestudy AT israelfernandez copynumbervariationandstrokecanvasriskandoutcomestudy AT myriamfornage copynumbervariationandstrokecanvasriskandoutcomestudy AT cristinagallegofabrega copynumbervariationandstrokecanvasriskandoutcomestudy AT christinajern copynumbervariationandstrokecanvasriskandoutcomestudy AT michaelkrawczak copynumbervariationandstrokecanvasriskandoutcomestudy AT arnelindgren copynumbervariationandstrokecanvasriskandoutcomestudy AT hughsmarkus copynumbervariationandstrokecanvasriskandoutcomestudy AT ollemelander copynumbervariationandstrokecanvasriskandoutcomestudy AT mayowaowolabi copynumbervariationandstrokecanvasriskandoutcomestudy AT kristinaschlicht copynumbervariationandstrokecanvasriskandoutcomestudy AT martinsoderholm copynumbervariationandstrokecanvasriskandoutcomestudy AT vinodhsrinivasasainagendra copynumbervariationandstrokecanvasriskandoutcomestudy AT carolinasorianotarraga copynumbervariationandstrokecanvasriskandoutcomestudy AT martinstenman copynumbervariationandstrokecanvasriskandoutcomestudy AT hemanttiwari copynumbervariationandstrokecanvasriskandoutcomestudy AT margaretcorasaniti copynumbervariationandstrokecanvasriskandoutcomestudy AT nataliefecteau copynumbervariationandstrokecanvasriskandoutcomestudy AT bethguizzardi copynumbervariationandstrokecanvasriskandoutcomestudy AT haleylopez copynumbervariationandstrokecanvasriskandoutcomestudy AT kevinnguyen copynumbervariationandstrokecanvasriskandoutcomestudy AT bradygaynor copynumbervariationandstrokecanvasriskandoutcomestudy AT timothyoconnor copynumbervariationandstrokecanvasriskandoutcomestudy AT ocolinstine copynumbervariationandstrokecanvasriskandoutcomestudy AT stevenjkittner copynumbervariationandstrokecanvasriskandoutcomestudy AT patrickmcardle copynumbervariationandstrokecanvasriskandoutcomestudy AT braxtondmitchell copynumbervariationandstrokecanvasriskandoutcomestudy AT huichunxu copynumbervariationandstrokecanvasriskandoutcomestudy AT caspargrondginsbach copynumbervariationandstrokecanvasriskandoutcomestudy |
| _version_ |
1718375282039062528 |