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

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)

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

Detalhes bibliográficos
Autor(a) principal:	Malik, R.
Data de Publicação:	2016
Outros Autores:	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)
Tipo de documento:	Artigo
Idioma:	eng
Título da fonte:	Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo:	http://hdl.handle.net/10400.18/3999
Resumo:	Erratum in: Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration. [Neurology. 2016]

Metadados do item

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network_name_str	Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository_id_str	7160
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)
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
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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Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration

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