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Advances in Genomic Analysis of Stroke: What Have We Learned and Where Are We Headed?

Scholarship@Western

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Title Advances in Genomic Analysis of Stroke: What Have We Learned and Where Are We Headed?
 
Creator Lanktree, Matthew B.
Dichgans, Martin
Hegele, Robert A.
 
Description As a result of technological advances, the genomic analysis of stroke has shifted from candidate gene association studies to genome-wide association studies (GWAS). Agnostic GWAS evaluate up to 90% of common genetic variation in a single experiment, creating an improved framework for identifying novel genetic leads for biochemical and cellular mechanisms underlying stroke. Given the ubiquity of the GWAS approach, it has become essential for stroke researchers and clinicians to be able to interpret GWAS results. Thus, we review the basic elements of design, methods, presentation, and interpretation of GWAS in the context of stroke research. In 8 recent stroke GWAS reports, no single locus has been identified in 2 GWAS at a genome-wide level of significance. Additionally, no significant association signal between stroke and a locus with previous evidence from candidate gene studies of stroke has been identified yet. Some caveats of the approach and future directions for stroke genomics are discussed, including the use of intermediate phenotypes, Mendelian randomization, phenomics, and deep resequencing. Intelligent, appropriately powered, multidisciplinary studies incorporating knowledge from clinical medicine, epidemiology, genetics, and molecular biology will be required to fully characterize the genomic contributors to stroke.
 
Date 2010-04-01
 
Type text
 
Identifier http://ir.lib.uwo.ca/vascularpub/46
 
Source Robarts Vascular Biology Publications
 
Publisher Scholarship@Western
 
Subject atherosclerosis
genetics
intracranial aneurysm
ischemia
risk factors
stroke
Medical Biochemistry
Medical Genetics