Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Autor: Temprano‐Sagrera, Gerard, Sitlani, Colleen M., Bone, William P., Martin‐Bornez, Miguel, Voight, Benjamin F., Morrison, Alanna C., Damrauer, Scott M., de Vries, Paul S., Smith, Nicholas L., Sabater‐Lleal, Maria ^*, Dehghan, Abbas, Heath, Adam S, Morrison, Alanna C, Reiner, Alex P, Johnson, Andrew, Richmond, Anne, Peters, Annette, van Hylckama Vlieg, Astrid, McKnight, Barbara, Psaty, Bruce M, Hayward, Caroline, Ward‐Caviness, Cavin, O’Donnell, Christopher, Chasman, Daniel, Strachan, David P, Tregouet, David A, Mook‐Kanamori, Dennis, Gill, Dipender, Thibord, Florian, Asselbergs, Folkert W, Leebeek, Frank W.G., Rosendaal, Frits R, Davies, Gail, Homuth, Georg, Temprano, Gerard, Campbell, Harry, Taylor, Herman A, Bressler, Jan, Huffman, Jennifer E, Rotter, Jerome I, Yao, Jie, Wilson, James F, Bis, Joshua C, Hahn, Julie M, Desch, Karl C, Wiggins, Kerri L, Raffield, Laura M, Bielak, Lawrence F, Yanek, Lisa R, Kleber, Marcus E, Mueller, Martina, Kavousi, Maryam, Mangino, Massimo, Liu, Melissa, Brown, Michael R, Conomos, Matthew P, Jhun, Min‐A, Chen, Ming‐Huei, de Maat, Moniek P.M., Pankratz, Nathan, Smith, Nicholas L, Peyser, Patricia A, Elliot, Paul, de Vries, Paul S, Wei, Peng, Wild, Philipp S, Morange, Pierre E, van der Harst, Pim, Yang, Qiong, Le, Ngoc‐Quynh, Marioni, Riccardo, Li, Ruifang, Damrauer, Scott M, Cox, Simon R, Trompet, Stella, Felix, Stephan B, Völker, Uwe, Tang, Weihong, Koenig, Wolfgang, Jukema, J. Wouter, Guo, Xiuqing, Lindstrom, Sara, Wang, Lu, Smith, Erin N, Gordon, William, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Haessler, Jeffrey, Brumpton, Ben M, Chasman, Daniel I, Suchon, Pierre, Turman, Constance, Germain, Marine, MacDonald, James, Braekkan, Sigrid K, Armasu, Sebastian M, Jackson, Rabecca D, Nielsen, Jonas B, Giulianini, Franco, Puurunen, Marja K, Ibrahim, Manal, Heckbert, Susan R, Bammler, Theo K, Frazer, Kelly A, McCauley, Bryan M, Taylor, Kent, Pankow, James S, Reiner, Alexander P, Gabrielsen, Maiken E, Deleuze, Jean‐François, O’Donnell, Chris J, Kim, Jihye, Kraft, Peter, Hansen, John‐Bjarne, Heit, John A, Kooperberg, Charles, Hveem, Kristian, Ridker, Paul M, Morange, Pierre‐Emmanuel, Johnson, Andrew D, Kabrhel, Christopher, Trégouët, David‐Alexandre, Malik, Rainer, Chauhan, Ganesh, Traylor, Matthew, Sargurupremraj, Muralidharan, Okada, Yukinori, Mishra, Aniket, Rutten‐Jacobs, Loes, Giese, Anne‐Katrin, van der Laan, Sander W, Gretarsdottir, Solveig, Anderson, Christopher D, Chong, Michael, Adams, Hieab HH, Ago, Tetsuro, Almgren, Peter, Amouyel, Philippe, Ay, Hakan, Bartz, Traci M, Benavente, Oscar R, Bevan, Steve, Boncoraglio, Giorgio B, Brown, Robert D, Butterworth, Adam S, Carrera, Caty, Carty, Cara L, Chen, Wei‐Min, Cole, John W, Correa, Adolfo, Cotlarciuc, Ioana, Cruchaga, Carlos, Danesh, John, de Bakker, Paul IW, DeStefano, Anita L, den Hoed, Marcel, Duan, Qing, Engelter, Stefan T, Falcone, Guido J, Gottesman, Rebecca F, Grewal, Raji P, Gudnason, Vilmundur, Gustafsson, Stefan, Harris, Tamara B, Hassan, Ahamad, Havulinna, Aki S, Holliday, Elizabeth G, Howard, George, Hsu, Fang‐Chi, Hyacinth, Hyacinth I, Arfan Ikram, M, Ingelsson, Erik, Irvin, Marguerite R, Jian, Xueqiu, Jiménez‐Conde, Jordi, Johnson, Julie A, Jukema, J Wouter, Kanai, Masahiro, Keene, Keith L, Kissela, Brett M, Kleindorfer, Dawn O, Kubo, Michiaki, Lange, Leslie A, Langefeld, Carl D, Langenberg, Claudia, Launer, Lenore J, Lee, Jin‐Moo, Lemmens, Robin, Leys, Didier, Lewis, Cathryn M, Lin, Wei‐Yu, Lindgren, Arne G, Lorentzen, Erik, Magnusson, Patrik K, Maguire, Jane, Manichaikul, Ani, McArdle, Patrick F, Meschia, James F, Mitchell, Braxton D, Mosley, Thomas H, Nalls, Michael A, Ninomiya, Toshiharu, O’Donnell, Martin J, Pulit, Sara L, Rannikmäe, Kristiina, Rexrode, Kathryn M, Rice, Kenneth, Rich, Stephen S, Rost, Natalia S, Rothwell, Peter M, Rundek, Tatjana, Sacco, Ralph L, Sakaue, Saori, Sale, Michele M, Salomaa, Veikko, Sapkota, Bishwa R, Schmidt, Reinhold, Schmidt, Carsten O, Schminke, Ulf, Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie LM, Tanislav, Christian, Tatlisumak, Turgut, Taylor, Kent D, Thijs, Vincent NS, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiedt, Steffen, Tzourio, Christophe, van Duijn, Cornelia M, Walters, Matthew, Wareham, Nicholas J, Wassertheil‐Smoller, Sylvia, Wilson, James G, Yusuf, Salim, Amin, Najaf, Aparicio, Hugo S, Arnett, Donna K, Attia, John, Beiser, Alexa S, Berr, Claudine, Buring, Julie E, 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Alessandro, Pileggi, Silvana, Rabionet, Raquel, Riba‐Llena, Iolanda, Ribasés, Marta, Romero, Jose R, Roquer, Jaume, Rudd, Anthony G, Sarin, Antti‐Pekka, Sarju, Ralhan, Sarnowski, Chloe, Sasaki, Makoto, Satizabal, Claudia L, Satoh, Mamoru, Sattar, Naveed, Sawada, Norie, Sibolt, Gerli, Sigurdsson, Ásgeir, Smith, Albert, Sobue, Kenji, Soriano‐Tárraga, Carolina, Stanne, Tara, Colin Stine, O, Stott, David J, Strauch, Konstantin, Takai, Takako, Tanaka, Hideo, Tanno, Kozo, Teumer, Alexander, Tomppo, Liisa, Torres‐Aguila, Nuria P, Touze, Emmanuel, Tsugane, Shoichiro, Uitterlinden, Andre G, Valdimarsson, Einar M, van der Lee, Sven J, Völzke, Henry, Wakai, Kenji, Weir, David, Williams, Stephen R, Wolfe, Charles DA, Wong, Quenna, Xu, Huichun, Yamaji, Taiki, Sanghera, Dharambir K, Melander, Olle, Jern, Christina, Strbian, Daniel, Fernandez‐Cadenas, Israel, Longstreth, W T, Rolfs, Arndt, Hata, Jun, Woo, Daniel, Rosand, Jonathan, Pare, Guillaume, Hopewell, Jemma C, Saleheen, Danish, Stefansson, Kari, Worrall, Bradford B, Kittner, Steven J, Seshadri, Sudha, Fornage, Myriam, Markus, Hugh S, Howson, Joanna MM, Kamatani, Yoichiro, Debette, Stephanie, Dichgans, Martin

Publikováno v: In Journal of Thrombosis and Haemostasis June 2022 20(6):1331-1349

Clinical and Genetic Analysis of a Patient with CMT4J.

Autor: Peddareddygari, Leema Reddy¹ (AUTHOR) lreddy@dynamicbiologics.com, Grewal, Raji P.^1,2 (AUTHOR) RGrewal@stfrancismedical.org

Publikováno v: Neurology International. Mar2022, Vol. 14 Issue 1, p207-211. 5p.

Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study

Autor: Pulit, Sara L, McArdle, Patrick F, Wong, Quenna, Malik, Rainer, Gwinn, Katrina, Achterberg, Sefanja, Algra, Ale, Amouyel, Philippe, Anderson, Christopher D, Arnett, Donna K, Arsava, Ethem Murat, Attia, John, Ay, Hakan, Bartz, Traci M, Battey, Thomas, Benavente, Oscar R, Bevan, Steve, Biffi, Alessandro, Bis, Joshua C, Blanton, Susan H, Boncoraglio, Giorgio B, Brown, Robert D, Jr, Burgess, Annette I, Carrera, Caty, Chapman Smith, Sherita N, Chasman, Daniel I, Chauhan, Ganesh, Chen, Wei-Min, Cheng, Yu-Ching, Chong, Michael, Cloonan, Lisa K, Cole, John W, Cotlarciuc, Ioana, Cruchaga, Carlos, Cuadrado-Godia, Elisa, Dave, Tushar, Dawson, Jesse, Debette, Stéphanie, Delavaran, Hossein, Dell, Cameron A, Dichgans, Martin, Doheny, Kimberly F, Dong, Chuanhui, Duggan, David J, Engström, Gunnar, Evans, Michele K, Pallejà, Xavier Estivill, Faul, Jessica D, Fernández-Cadenas, Israel, Fornage, Myriam, Frossard, Philippe M, Furie, Karen, Gamble, Dale M, Gieger, Christian, Giese, Anne-Katrin, Giralt-Steinhauer, Eva, González, Hector M, Goris, An, Gretarsdottir, Solveig, Grewal, Raji P, Grittner, Ulrike, Gustafsson, Stefan, Han, Buhm, Hankey, Graeme J, Heitsch, Laura, Higgins, Peter, Hochberg, Marc C, Holliday, Elizabeth, Hopewell, Jemma C, Horenstein, Richard B, Howard, George, Ikram, M Arfan, Ilinca, Andreea, Ingelsson, Erik, Irvin, Marguerite R, Jackson, Rebecca D, Jern, Christina, Conde, Jordi Jiménez, Johnson, Julie A, Jood, Katarina, Kahn, Muhammad S, Kaplan, Robert, Kappelle, L Jaap, Kardia, Sharon L R, Keene, Keith L, Kissela, Brett M, Kleindorfer, Dawn O, Koblar, Simon, Labovitz, Daniel, Launer, Lenore J, Laurie, Cathy C, Laurie, Cecelia A, Lee, Cue Hyunkyu, Lee, Jin-Moo, Lehm, Manuel, Lemmens, Robin, Levi, Christopher, Leys, Didier, Lindgren, Arne, Longstreth, W T, Jr, Maguire, Jane, Manichaikul, Ani, Markus, Hugh S, McClure, Leslie A, McDonough, Caitrin W, Meisinger, Christa, Melander, Olle, Meschia, James F, Mola-Caminal, Marina, Montaner, Joan, Mosley, Thomas H, Müller-Nurasyid, Martina, Nalls, Mike A, O'Connell, Jeffrey R, O'Donnell, Martin, Ois, ángel, Papanicolaou, George J, Paré, Guillaume, Peddareddygari, Leema Reddy, Pedersén, Annie, Pera, Joanna, Peters, Annette, Poole, Deborah, Psaty, Bruce M, Rabionet, Raquel, Raffeld, Miriam R, Rannikmäe, Kristiina, Rasheed, Asif, Redfors, Petra, Reiner, Alex P, Rexrode, Kathryn, Ribasés, Marta, Rich, Stephen S, Robberecht, Wim, Rodriguez-Campello, Ana, Rolfs, Arndt, Roquer, Jaume, Rose, Lynda M, Rosenbaum, Daniel, Rost, Natalia S, Rothwell, Peter M, Rundek, Tatjana, Ryan, Kathleen A, Sacco, Ralph L, Sale, Michèle M, Saleheen, Danish, Salomaa, Veikko, Sánchez-Mora, Cristina, Schmidt, Carsten Oliver, Schmidt, Helena, Schmidt, Reinhold, Schürks, Markus, Scott, Rodney, Segal, Helen C, Seiler, Stephan, Seshadri, Sudha, Sharma, Pankaj, Shuldiner, Alan R, Silver, Brian, Slowik, Agnieszka, Smith, Jennifer A, Söderholm, Martin, Soriano, Carolina, Sparks, Mary J, Stanne, Tara, Stefansson, Kari, Stine, O Colin, Strauch, Konstantin, Sturm, Jonathan, Sudlow, Cathie LM, Tajuddin, Salman M, Talbert, Robert L, Tatlisumak, Turgut, Thijs, Vincent, Thorleifsson, Gudmar, Thorsteindottir, Unnur, Tiedt, Steffen, Traylor, Matthew, Trompet, Stella, Valant, Valerie, Waldenberger, Melanie, Walters, Matthew, Wang, Liyong, Wassertheil-Smoller, Sylvia, Weir, David R, Wiggins, Kerri L, Williams, Stephen R, Wloch-Kopec, Dorota, Woo, Daniel, Woodfield, Rebecca, Wu, Ona, Xu, Huichun, Zonderman, Alan B, Worrall, Bradford B, de Bakker, Paul IW, Kittner, Steven J, Mitchell, Braxton D, Rosand, Jonathan, Sudlow, Cathie L M, Worrall, Bradford B Worrall, Arnett, Donna K Arnett, Benavente, Oscar, Wasssertheil-Smoller, Sylvia

Publikováno v: In The Lancet Neurology February 2016 15(2):174-184

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

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