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Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration

2016-03Journal article Restricted access
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dc.contributor.authorMalik, R.
dc.contributor.authorTraylor, M.
dc.contributor.authorPulit, S.L.
dc.contributor.authorBevan, S.
dc.contributor.authorHopewell, J.C.
dc.contributor.authorHolliday, E.G.
dc.contributor.authorZhao, W.
dc.contributor.authorAbrantes, P.
dc.contributor.authorAmouyel, P.
dc.contributor.authorAttia, J.R.
dc.contributor.authorBattey, T.W.
dc.contributor.authorBerger, K.
dc.contributor.authorBoncoraglio, G.B.
dc.contributor.authorChauhan, G.
dc.contributor.authorCheng, Y.C.
dc.contributor.authorChen, W.M.
dc.contributor.authorClarke, R.
dc.contributor.authorCotlarciuc, I.
dc.contributor.authorDebette, S.
dc.contributor.authorFalcone, G.J.
dc.contributor.authorFerro, J.M.
dc.contributor.authorGamble, D.M.
dc.contributor.authorIlinca, A.
dc.contributor.authorKittner, S.J.
dc.contributor.authorKourkoulis, C.E.
dc.contributor.authorLemmens, R.
dc.contributor.authorLevi, C.R.
dc.contributor.authorLichtner, P.
dc.contributor.authorLindgren, A.
dc.contributor.authorLiu, J.
dc.contributor.authorMeschia, J.F.
dc.contributor.authorMitchell, B.D.
dc.contributor.authorOliveira, S.A.
dc.contributor.authorPera, J.
dc.contributor.authorReiner, A.P.
dc.contributor.authorRothwell, P.M.
dc.contributor.authorSharma, P.
dc.contributor.authorSlowik, A.
dc.contributor.authorSudlow, C.L.
dc.contributor.authorTatlisumak, T.
dc.contributor.authorThijs, V.
dc.contributor.authorVicente, A.M.
dc.contributor.authorWoo, D.
dc.contributor.authorSeshadri, S.
dc.contributor.authorSaleheen, D.
dc.contributor.authorRosand, J.
dc.contributor.authorMarkus, H.S.
dc.contributor.authorWorrall, B.B.
dc.contributor.authorDichgans, M.
dc.contributor.authorISGC Analysis Group
dc.contributor.authorMETASTROKE collaboration
dc.contributor.authorWellcome Trust Case Control Consortium 2 (WTCCC2)
dc.contributor.authorNINDS Stroke Genetics Network (SiGN)
dc.date.accessioned2016-09-29T15:13:41Z
dc.date.available2017-04-01T00:30:10Z
dc.date.issued2016-03
dc.descriptionErratum in: Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration. [Neurology. 2016]pt_PT
dc.description.abstractObjective: To investigate the influence of common and low-frequency genetic variants on the risk of ischemic stroke (all IS) and etiologic stroke subtypes. Methods: We meta-analyzed 12 individual genome-wide association studies comprising 10,307 cases and 19,326 controls imputed to the 1000 Genomes (1 KG) phase I reference panel. We selected variants showing the highest degree of association (p , 1E-5) in the discovery phase for replication in Caucasian (13,435 cases and 29,269 controls) and South Asian (2,385 cases and 5,193 controls) samples followed by a transethnic meta-analysis. We further investigated the p value distribution for different bins of allele frequencies for all IS and stroke subtypes. Results: We showed genome-wide significance for 4 loci: ABO for all IS, HDAC9 for large vessel disease (LVD), and both PITX2 and ZFHX3 for cardioembolic stroke (CE). We further refined the association peaks for ABO and PITX2. Analyzing different allele frequency bins, we showed significant enrichment in low-frequency variants (allele frequency ,5%) for both LVD and small vessel disease, and an enrichment of higher frequency variants (allele frequency 10% and 30%) for CE (all p , 1E-5). Conclusions: Our findings suggest that the missing heritability in IS subtypes can in part be attributed to low-frequency and rare variants. Larger sample sizes are needed to identify the variants associated with all IS and stroke subtypes.pt_PT
dc.identifier.citationNeurology. 2016 Mar 29;86(13):1217-26. doi: 10.1212/WNL.0000000000002528. Epub 2016 Mar 2.pt_PT
dc.identifier.doi10.1212/WNL.0000000000002528pt_PT
dc.identifier.issn0028-3878
dc.identifier.urihttp://hdl.handle.net/10400.18/3999
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherAmerican Academy of Neurologypt_PT
dc.relation.publisherversionhttp://www.neurology.org/content/86/13/1217.longpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.subjectIschemic Strokept_PT
dc.titleLow-frequency and common genetic variation in ischemic stroke: The METASTROKE collaborationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1226pt_PT
oaire.citation.startPage1217pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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