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

Autor: Cole, John W., Adigun, Taiwo, Akinyemi, Rufus, Akpa, Onoja Matthew, Bell, Steven, Chen, Bowang, Jimenez-Conde, Jordi, Lazcano, Uxue, Fernandez-Cadenas, Israel, Fornage, Myriam, Gallego-Fabrega, Cristina, Jern, Christina, Krawczak, Michael, Lindgren, Arne, Markus, Hugh S., Melander, Olle, Owolabi, Mayowa, Schlicht, Kristina, Söderholm, Martin, Srinivasasainagendra, Vinodh, Soriano Tárraga, Carolina, Stenman, Martin, Tiwari, Hemant, Corasaniti, Margaret, Fecteau, Natalie, Guizzardi, Beth, Lopez, Haley, Nguyen, Kevin, Gaynor, Brady, O'Connor, Timothy, Stine, O. Colin, Kittner, Steven J., McArdle, Patrick, Mitchell, Braxton D., Xu, Huichun, Grond-Ginsbach, Caspar, Universitat Autònoma de Barcelona
Přispěvatelé: Cole, John W [0000-0001-9263-8930], Lazcano Dobao, Uxue [0000-0003-3948-3372], Gaynor, Brady [0000-0002-4142-0613], Xu, Huichun [0000-0001-8118-9607], Apollo - University of Cambridge Repository
Rok vydání: 2021
Předmět:
Oncology
Male
Proteomics
Microarrays
Single Nucleotide Polymorphisms
Genome-wide association study
Pilot Projects
Cardiovascular Medicine
Vascular Medicine
Biochemistry
Study Protocol
Medical Conditions
Consortia
Risk Factors
Databases
Genetic
Outcome Assessment
Health Care
Ethnicity
Medicine and Health Sciences
Exome
Copy-number variation
Stroke
Multidisciplinary
Genomics
Copy Number Variation
Phenotype
Bioassays and Physiological Analysis
Neurology
Cardiovascular Diseases
Biomarker (medicine)
Medicine
Female
medicine.medical_specialty
DNA Copy Number Variations
Genotype
Science
Cerebrovascular Diseases
Cardiology
Single-nucleotide polymorphism
Genome Complexity
Research and Analysis Methods
Polymorphism
Single Nucleotide
Internal medicine
medicine
Genome-Wide Association Studies
Genetics
Humans
Genetic Predisposition to Disease
Genotyping
Ischemic Stroke
business.industry
Case-control study
Biology and Life Sciences
Computational Biology
Human Genetics
Cardiovascular Disease Risk
medicine.disease
Genome Analysis
MicroRNAs
Case-Control Studies
business
Biomarkers
Genome-Wide Association Study
Zdroj: PLoS ONE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE, Vol 16, Iss 4, p e0248791 (2021)
ISSN: 1932-6203
Popis: 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.
Databáze: OpenAIRE
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