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Common variants at 6p21.1 are associated with large artery atherosclerotic stroke

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dc.contributor.authorHolliday, E.
dc.contributor.authorKoblar, S.
dc.contributor.authorJannes, J.
dc.contributor.authorLewis, M.
dc.date.issued2012
dc.description.abstractGenome-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.
dc.description.statementofresponsibilityElizabeth G Holliday... Simon A Koblar, Jim Jannes... Martin D Lewis... et al.
dc.identifier.citationNature Genetics, 2012; 44(10):1147-1151
dc.identifier.doi10.1038/ng.2397
dc.identifier.issn1061-4036
dc.identifier.issn1546-1718
dc.identifier.orcidKoblar, S. [0000-0002-8667-203X]
dc.identifier.orcidJannes, J. [0000-0003-1440-2572]
dc.identifier.orcidLewis, M. [0000-0002-3332-3776]
dc.identifier.urihttp://hdl.handle.net/2440/74093
dc.language.isoen
dc.publisherNature Publishing Group
dc.rights© 2012 Nature America, Inc. All rights reserved.
dc.source.urihttps://doi.org/10.1038/ng.2397
dc.subjectAustralian Stroke Genetics Collaborative
dc.subjectInternational Stroke Genetics Consortium
dc.subjectWellcome Trust Case Control Consortium 2
dc.subjectChromosomes, Human, Pair 6
dc.subjectHumans
dc.subjectCerebral Infarction
dc.subjectIntracranial Arteriosclerosis
dc.subjectGenetic Predisposition to Disease
dc.subjectOdds Ratio
dc.subjectCase-Control Studies
dc.subjectLinkage Disequilibrium
dc.subjectPolymorphism, Single Nucleotide
dc.subjectGenome-Wide Association Study
dc.titleCommon variants at 6p21.1 are associated with large artery atherosclerotic stroke
dc.typeJournal article
pubs.publication-statusPublished

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