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https://hdl.handle.net/2440/74093
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Type: | Journal article |
Title: | Common variants at 6p21.1 are associated with large artery atherosclerotic stroke |
Author: | Holliday, E. Koblar, S. Jannes, J. Lewis, M. |
Citation: | Nature Genetics, 2012; 44(10):1147-1151 |
Publisher: | Nature Publishing Group |
Issue Date: | 2012 |
ISSN: | 1061-4036 1546-1718 |
Statement of Responsibility: | Elizabeth G Holliday... Simon A Koblar, Jim Jannes... Martin D Lewis... et al. |
Abstract: | Genome-wide association studies (GWAS) have not consistently detected replicable genetic risk factors for ischemic stroke, potentially due to etiological heterogeneity of this trait. We performed GWAS of ischemic stroke and a major ischemic stroke subtype (large artery atherosclerosis, LAA) using 1,162 ischemic stroke cases (including 421 LAA cases) and 1,244 population controls from Australia. Evidence for a genetic influence on ischemic stroke risk was detected, but this influence was higher and more significant for the LAA subtype. We identified a new LAA susceptibility locus on chromosome 6p21.1 (rs556621: odds ratio (OR) = 1.62, P = 3.9 × 10−8) and replicated this association in 1,715 LAA cases and 52,695 population controls from 10 independent population cohorts (meta-analysis replication OR = 1.15, P = 3.9 × 10−4; discovery and replication combined OR = 1.21, P = 4.7 × 10−8). This study identifies a genetic risk locus for LAA and shows how analyzing etiological subtypes may better identify genetic risk alleles for ischemic stroke. |
Keywords: | Australian Stroke Genetics Collaborative International Stroke Genetics Consortium Wellcome Trust Case Control Consortium 2 Chromosomes, Human, Pair 6 Humans Cerebral Infarction Intracranial Arteriosclerosis Genetic Predisposition to Disease Odds Ratio Case-Control Studies Linkage Disequilibrium Polymorphism, Single Nucleotide Genome-Wide Association Study |
Rights: | © 2012 Nature America, Inc. All rights reserved. |
DOI: | 10.1038/ng.2397 |
Published version: | http://dx.doi.org/10.1038/ng.2397 |
Appears in Collections: | Aurora harvest 4 Medicine publications |
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