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spelling Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaborationDoenças Cardio e Cérebro-vascularesIschemic StrokeErratum in: Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration. [Neurology. 2016]Objective: 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.American Academy of NeurologyRepositório Científico do Instituto Nacional de SaúdeMalik, R.Traylor, M.Pulit, S.L.Bevan, S.Hopewell, J.C.Holliday, E.G.Zhao, W.Abrantes, P.Amouyel, P.Attia, J.R.Battey, T.W.Berger, K.Boncoraglio, G.B.Chauhan, G.Cheng, Y.C.Chen, W.M.Clarke, R.Cotlarciuc, I.Debette, S.Falcone, G.J.Ferro, J.M.Gamble, D.M.Ilinca, A.Kittner, S.J.Kourkoulis, C.E.Lemmens, R.Levi, C.R.Lichtner, P.Lindgren, A.Liu, J.Meschia, J.F.Mitchell, B.D.Oliveira, S.A.Pera, J.Reiner, A.P.Rothwell, P.M.Sharma, P.Slowik, A.Sudlow, C.L.Tatlisumak, T.Thijs, V.Vicente, A.M.Woo, D.Seshadri, S.Saleheen, D.Rosand, J.Markus, H.S.Worrall, B.B.Dichgans, M.ISGC Analysis GroupMETASTROKE collaborationWellcome Trust Case Control Consortium 2 (WTCCC2)NINDS Stroke Genetics Network (SiGN)2017-04-01T00:30:10Z2016-032016-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/3999engNeurology. 2016 Mar 29;86(13):1217-26. doi: 10.1212/WNL.0000000000002528. Epub 2016 Mar 2.0028-387810.1212/WNL.0000000000002528info:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:07Zoai:repositorio.insa.pt:10400.18/3999Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:38:52.691575Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
title Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
spellingShingle Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
Malik, R.
Doenças Cardio e Cérebro-vasculares
Ischemic Stroke
title_short Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
title_full Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
title_fullStr Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
title_full_unstemmed Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
title_sort Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration
author Malik, R.
author_facet Malik, R.
Traylor, M.
Pulit, S.L.
Bevan, S.
Hopewell, J.C.
Holliday, E.G.
Zhao, W.
Abrantes, P.
Amouyel, P.
Attia, J.R.
Battey, T.W.
Berger, K.
Boncoraglio, G.B.
Chauhan, G.
Cheng, Y.C.
Chen, W.M.
Clarke, R.
Cotlarciuc, I.
Debette, S.
Falcone, G.J.
Ferro, J.M.
Gamble, D.M.
Ilinca, A.
Kittner, S.J.
Kourkoulis, C.E.
Lemmens, R.
Levi, C.R.
Lichtner, P.
Lindgren, A.
Liu, J.
Meschia, J.F.
Mitchell, B.D.
Oliveira, S.A.
Pera, J.
Reiner, A.P.
Rothwell, P.M.
Sharma, P.
Slowik, A.
Sudlow, C.L.
Tatlisumak, T.
Thijs, V.
Vicente, A.M.
Woo, D.
Seshadri, S.
Saleheen, D.
Rosand, J.
Markus, H.S.
Worrall, B.B.
Dichgans, M.
ISGC Analysis Group
METASTROKE collaboration
Wellcome Trust Case Control Consortium 2 (WTCCC2)
NINDS Stroke Genetics Network (SiGN)
author_role author
author2 Traylor, M.
Pulit, S.L.
Bevan, S.
Hopewell, J.C.
Holliday, E.G.
Zhao, W.
Abrantes, P.
Amouyel, P.
Attia, J.R.
Battey, T.W.
Berger, K.
Boncoraglio, G.B.
Chauhan, G.
Cheng, Y.C.
Chen, W.M.
Clarke, R.
Cotlarciuc, I.
Debette, S.
Falcone, G.J.
Ferro, J.M.
Gamble, D.M.
Ilinca, A.
Kittner, S.J.
Kourkoulis, C.E.
Lemmens, R.
Levi, C.R.
Lichtner, P.
Lindgren, A.
Liu, J.
Meschia, J.F.
Mitchell, B.D.
Oliveira, S.A.
Pera, J.
Reiner, A.P.
Rothwell, P.M.
Sharma, P.
Slowik, A.
Sudlow, C.L.
Tatlisumak, T.
Thijs, V.
Vicente, A.M.
Woo, D.
Seshadri, S.
Saleheen, D.
Rosand, J.
Markus, H.S.
Worrall, B.B.
Dichgans, M.
ISGC Analysis Group
METASTROKE collaboration
Wellcome Trust Case Control Consortium 2 (WTCCC2)
NINDS Stroke Genetics Network (SiGN)
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dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Malik, R.
Traylor, M.
Pulit, S.L.
Bevan, S.
Hopewell, J.C.
Holliday, E.G.
Zhao, W.
Abrantes, P.
Amouyel, P.
Attia, J.R.
Battey, T.W.
Berger, K.
Boncoraglio, G.B.
Chauhan, G.
Cheng, Y.C.
Chen, W.M.
Clarke, R.
Cotlarciuc, I.
Debette, S.
Falcone, G.J.
Ferro, J.M.
Gamble, D.M.
Ilinca, A.
Kittner, S.J.
Kourkoulis, C.E.
Lemmens, R.
Levi, C.R.
Lichtner, P.
Lindgren, A.
Liu, J.
Meschia, J.F.
Mitchell, B.D.
Oliveira, S.A.
Pera, J.
Reiner, A.P.
Rothwell, P.M.
Sharma, P.
Slowik, A.
Sudlow, C.L.
Tatlisumak, T.
Thijs, V.
Vicente, A.M.
Woo, D.
Seshadri, S.
Saleheen, D.
Rosand, J.
Markus, H.S.
Worrall, B.B.
Dichgans, M.
ISGC Analysis Group
METASTROKE collaboration
Wellcome Trust Case Control Consortium 2 (WTCCC2)
NINDS Stroke Genetics Network (SiGN)
dc.subject.por.fl_str_mv Doenças Cardio e Cérebro-vasculares
Ischemic Stroke
topic Doenças Cardio e Cérebro-vasculares
Ischemic Stroke
description Erratum in: Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration. [Neurology. 2016]
publishDate 2016
dc.date.none.fl_str_mv 2016-03
2016-03-01T00:00:00Z
2017-04-01T00:30:10Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/3999
url http://hdl.handle.net/10400.18/3999
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Neurology. 2016 Mar 29;86(13):1217-26. doi: 10.1212/WNL.0000000000002528. Epub 2016 Mar 2.
0028-3878
10.1212/WNL.0000000000002528
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv embargoedAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv American Academy of Neurology
publisher.none.fl_str_mv American Academy of Neurology
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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