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Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke

Autor: Jaworek, Thomas, Xu, Huichun, Attia, John, Veldink, Jan H, Walters, Robin G, Weir, David R, Woo, Daniel, Worrall, Bradford B, Hong, Charles C, Ross, Owen, Zand, Ramin, Leeuw, Frank-Erik de, Lindgren, Arne G, Bell, Steven, Pare, Guillaume, Anderson, Christopher D, Markus, Hugh S, Jern, Christina, Malik, Rainer, Dichgans, Martin, Mitchell, Braxton D, Kittner, Steven J, Consortium, Early Onset Stroke Genetics Consortium of the International Stroke Genetics, Benavente, Oscar R, Boncoraglio, Giorgio B, Butterworth, Adam, Dissections, Cervical Artery, Patients, Ischemic Stroke, Carcel-Marquez, Jara, Chen, Zhengming, Chong, Michael, Gaynor, Brady J, Cruchaga, Carlos, Cushman, Mary, Danesh, John, Debette, Stephanie, Duggan, David J, Durda, Jon Peter, Engstrom, Gunnar, Enzinger, Chris, Faul, Jessica D, Fecteau, Natalie S, Cole, John W, Fernandez-Cadenas, Israel, Gieger, Christian, Giese, Anne-Katrin, Grewal, Raji P, Grittner, Ulrike, Havulinna, Aki S, Heitsch, Laura, Hochberg, Marc C, Holliday, Elizabeth, Hu, Jie, Rannikmae, Kristiina, Ilinca, Andreea, Consortium, INVENT, Irvin, Marguerite R, Jackson, Rebecca D, Jacob, Mina A, Janssen, Raquel Rabionet, Jimenez-Conde, Jordi, Johnson, Julie A, Kamatani, Yoichiro, Kardia, Sharon L, Stanne, Tara M, Koido, Masaru, Kubo, Michiaki, Lange, Leslie, Lee, Jin-Moo, Lemmens, Robin, Levi, Christopher R, Li, Jiang, Li, Liming, Lin, Kuang, Lopez, Haley, Tomppo, Liisa, Luke, Sothear, Maguire, Jane, McArdle, Patrick F, McDonough, Caitrin W, Meschia, James F, Metso, Tiina, Muller-Nurasyid, Martina, O'Connor, Timothy D, O'Donnell, Martin, Peddareddygari, Leema R, Abedi, Vida, Pera, Joanna, Perry, James A, Peters, Annette, Putaala, Jukka, Ray, Debashree, Rexrode, Kathryn, Ribases, Marta, Rosand, Jonathan, Rothwell, Peter M, Rundek, Tatjana, Amouyel, Philippe, Ryan, Kathleen A, Sacco, Ralph L, Salomaa, Veikko, Sanchez-Mora, Cristina, Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Smith, Jennifer A, Smith, Nicholas L, Wassertheil-Smoller, Sylvia, Armstrong, Nicole D, Soederholm, Martin, Stine, O. C., Strbian, Daniel, Sudlow, Cathie L, Tatlisumak, Turgut, Terao, Chikashi, Thijs, Vincent, Torres-Aguila, Nuria P, Tregouet, David-Alexandre, Tuladhar, Anil M

Publikováno v: Neurology 99(16), e1738-e1754 (2022). doi:10.1212/WNL.0000000000201006
Jaworek, T, Xu, H, Gaynor, B, Cole, J, Rannikmae, K, Stanne, T M, Tomppo, L, Abedi, V, Amouyel, P, Armstrong, N, Attia, J, Bell, S, Benavente, O R, Boncoraglio, G B, Butterworth, A S, Carcel-Marquez, J, Chen, Z, Chong, M, Cruchaga, C, Cushman, M, Danesh, J, Debette, S, Duggan, D, Durda, J P, Engstrom, G, Enzinger, C, Faul, J D, Fecteau, N, Fernandez-Cadenas, I, Gieger, C, Giese, A-K, Grewal, R P, Grittner, U, Havulinna, A S, Heitsch, L, Hochberg, M, Holliday, E G, Zhu, J, Llinca, A, Irvin, M R, Jackson, R D, Jacob, M, Rabionet-Janssen, R, Jimenez-Conde, J, Johnson, J A, Kamatani, Y, Kardia, S L R, Koido, M, Kubo, M, Lange, L A, Lee, J-M, Lemmens, R, Levi, C, Li, J, Lin, K, Lopez, H, Maguire, J M, Luke, S, McArdle, P F, McDonough, C W, Meschia, J, Metso, T M, Müller-Nurasyid, M, O'Connor, T, Peddareddygari, L R, O'Donnell, M, Pera, J, Perry, J, Peters, A, Putaala, J, Ray, D, Rexrode, K M, Ribases, M, Rosand, J, Rothwell, P M, Rundek, T, Ryan, K, Sacco, R L, Salomaa, V, Sánchez-Mora, C, Schmidt, R, Sharma, P, Slowik, A, Smith, J, Smith, N L, Wassertheil-Smoller, S, Söderholm, M, Stine, C, Strbian, D, Sudlow, C L M, Tatlisumak, T, Terao, C, Thijs, V, Torres-Aguila, N, Tregouet, D-A, Tuladhar, A M, Veldink, J H, Walters, R G, Weir, D R, Woo, D, Worrall, B B, Hong, C, Ross, O A, Zand, R, de Leeuw, F-E, Lindgren, A, Pare, G, Anderson, C D, Markus, H S, Jern, C, Malik, R, Dichgans, M, Mitchell, B D & Kittner, S J 2022, ' Contribution of Common Genetic Variants to Risk of Early-Onset Ischemic Stroke ', Neurology, vol. 99, no. 16, pp. e1738-e1754 . https://doi.org/10.1212/WNL.0000000000201006

Background and Objectives:Current genome-wide association studies of ischemic stroke have focused primarily on late onset disease. As a complement to these studies, we sought to identifythe contribution of common genetic variants to risk of early ons

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f90257f92b8480b7d7d014740c0376c
https://lirias.kuleuven.be/handle/20.500.12942/716243

Sex-specific Genome Wide Association Study Of Early-onset Ischemic Stroke

Autor: Tomppo, Liisa, Rannikmae, Kristiina, Stanne, Tara M., Putaala, Jukka, Strbian, Daniel, Jern, Christina, de Leeuw, Frank Erik, Cadenas, Israel Fernandez, Slowik, Agnieszka M., Boncoraglio, Giorgio, Lindgren, Arne, Conde, Jordi J., Schmidt, Reinhold, Sharma, Pankaj, Lemmens, Robin, Melander, Olle, Rothwell, Peter, Levi, Christopher, Sudlow, Catherine, Debette, Stephanie, Metso, Tiina, Pare, Guillaume, Markus, Hugh, Saleheen, Danish, Danesh, John, Zand, Ramin, Worrall, Bradford B., Meschia, James F., Rundek, Tatjana, Woo, Daniel, Lee, Jin Moo, Irvin, Marguerite R., Mcdonough, Caitrin W., Rexrode, Kathryn M., Wassertheil-Smoller, Sylvia W., Rosand, Jonathan, Gieger, Christian, Muller-Nurasyid, Martina, Salomaa, Veikko V., Kamatani, Yoichiro, Walters, Robin, Chen, Zhengming, Dichgans, Martin, Malik, Rainer, Gaynor, Brady, Cole, John, Xu, Huichun, Mitchell, Braxton D., Kittner, Steven J., Early-Onset Stroke, Consortium

Publikováno v: Stroke
Stroke, American Heart Association, 2022, 53 (Suppl_1), ⟨10.1161/str.53.suppl_1.154⟩

Introduction: Genetic studies of early-onset disease have been an effective strategy to identify novel pathways and drug targets generalizable also to later-onset disease. Few studies have investigated the sex-specific genetic associations with early

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1398::232f791d2e6740ee718e0ac4fc956035
https://hal.archives-ouvertes.fr/hal-03696351

The copy number variation and stroke (CaNVAS) risk and outcome study

Autor: Cole, John W., Adigun, Taiwo, Akinyemi, Rufus, Akpa, Onoja Matthew, Bell, Steven, Chen, Bowang, Jimenez-Conde, Jordi, Lazcano, Uxue, Fernandez-Cadenas, Israel, Fornage, Myriam, Gallego-Fabrega, Cristina, Jern, Christina, Krawczak, Michael, Lindgren, Arne, Markus, Hugh S., Melander, Olle, Owolabi, Mayowa, Schlicht, Kristina, Söderholm, Martin, Srinivasasainagendra, Vinodh, Soriano Tárraga, Carolina, Stenman, Martin, Tiwari, Hemant, Corasaniti, Margaret, Fecteau, Natalie, Guizzardi, Beth, Lopez, Haley, Nguyen, Kevin, Gaynor, Brady, O'Connor, Timothy, Stine, O. Colin, Kittner, Steven J., McArdle, Patrick, Mitchell, Braxton D., Xu, Huichun, Grond-Ginsbach, Caspar, Universitat Autònoma de Barcelona

Publikováno v: PLoS ONE
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
PLoS One
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
PLoS ONE, Vol 16, Iss 4, p e0248791 (2021)

Background and purpose The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this knowledge gap. Methods Over 24,5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c167b5d96afe0483bfddef7d0c6b16
https://pubmed.ncbi.nlm.nih.gov/33872305

Genome sequencing unveils a regulatory landscape of platelet reactivity

Autor: Keramati, Ali R, Chen, Ming-Huei, Rodriguez, Benjamin AT, Yanek, Lisa R, Bhan, Arunoday, Gaynor, Brady J, Ryan, Kathleen, Brody, Jennifer A, Zhong, Xue, Wei, Qiang, NHLBI Trans-Omics for Precision (TOPMed) Consortium, Kammers, Kai, Kanchan, Kanika, Iyer, Kruthika, Kowalski, Madeline H, Pitsillides, Achilleas N, Cupples, L Adrienne, Li, Bingshan, Schlaeger, Thorsten M, Shuldiner, Alan R, O'Connell, Jeffrey R, Ruczinski, Ingo, Mitchell, Braxton D, Faraday, Nauder, Taub, Margaret A, Becker, Lewis C, Lewis, Joshua P, Mathias, Rasika A, Johnson, Andrew D

Publikováno v: Nature communications, vol 12, iss 1
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

Platelet aggregation at the site of atherosclerotic vascular injury is the underlying pathophysiology of myocardial infarction and stroke. To build upon prior GWAS, here we report on 16 loci identified through a whole genome sequencing (WGS) approach

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601d5d15ac401716e9dfcfa5d043366d
https://doi.org/10.1038/s41467-021-23470-9