190 results on '"Carrera, Caty"'
Search Results
2. Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke
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Ibanez, Laura, Heitsch, Laura, Carrera, Caty, Farias, Fabiana HG, Del Aguila, Jorge L, Dhar, Rajat, Budde, John, Bergmann, Kristy, Bradley, Joseph, Harari, Oscar, Phuah, Chia Ling, Lemmens, Robin, Viana Oliveira Souza, Alessandro A, Moniche, Francisco, Cabezas-Juan, Antonio, Arenillas, Juan Francisco, Krupinksi, Jerzy, Cullell, Natalia, Torres-Aguila, Nuria, Muiño, Elena, Cárcel-Márquez, Jara, Marti-Fabregas, Joan, Delgado-Mederos, Raquel, Marin-Bueno, Rebeca, Hornick, Alejandro, Vives-Bauza, Cristofol, Navarro, Rosa Diaz, Tur, Silvia, Jimenez, Carmen, Obach, Victor, Segura, Tomas, Serrano-Heras, Gemma, Chung, Jong Won, Roquer, Jaume, Soriano-Tarraga, Carol, Giralt-Steinhauer, Eva, Mola-Caminal, Marina, Pera, Joanna, Lapicka-Bodzioch, Katarzyna, Derbisz, Justyna, Davalos, Antoni, Lopez-Cancio, Elena, Muñoz, Lucia, Tatlisumak, Turgut, Molina, Carlos, Ribo, Marc, Bustamante, Alejandro, Sobrino, Tomas, Castillo-Sanchez, Jose, Campos, Francisco, Rodriguez-Castro, Emilio, Arias-Rivas, Susana, Rodríguez-Yáñez, Manuel, Herbosa, Christina, Ford, Andria L, Gutierrez-Romero, Alonso, Uribe-Pacheco, Rodrigo, Arauz, Antonio, Lopes-Cendes, Iscia, Lowenkopf, Theodore, Barboza, Miguel A, Amini, Hajar, Stamova, Boryana, Ander, Bradley P, Sharp, Frank R, Kim, Gyeong Moon, Bang, Oh Young, Jimenez-Conde, Jordi, Slowik, Agnieszka, Stribian, Daniel, Tsai, Ellen A, Burkly, Linda C, Montaner, Joan, Fernandez-Cadenas, Israel, Lee, Jin Moo, and Cruchaga, Carlos
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Epidemiology ,Health Sciences ,Neurosciences ,Human Genome ,Genetics ,Stroke ,Biotechnology ,Aging ,Brain Disorders ,Cerebrovascular ,2.1 Biological and endogenous factors ,Neurological ,Bayes Theorem ,Brain Ischemia ,Genome-Wide Association Study ,Humans ,Ischemic Stroke ,United States ,ischaemic stroke ,neuroprotection ,genetics ,NIHSS ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Neurology & Neurosurgery ,Biomedical and clinical sciences ,Health sciences ,Psychology - Abstract
During the first hours after stroke onset, neurological deficits can be highly unstable: some patients rapidly improve, while others deteriorate. This early neurological instability has a major impact on long-term outcome. Here, we aimed to determine the genetic architecture of early neurological instability measured by the difference between the National Institutes of Health Stroke Scale (NIHSS) within 6 h of stroke onset and NIHSS at 24 h. A total of 5876 individuals from seven countries (Spain, Finland, Poland, USA, Costa Rica, Mexico and Korea) were studied using a multi-ancestry meta-analyses. We found that 8.7% of NIHSS at 24 h of variance was explained by common genetic variations, and also that early neurological instability has a different genetic architecture from that of stroke risk. Eight loci (1p21.1, 1q42.2, 2p25.1, 2q31.2, 2q33.3, 5q33.2, 7p21.2 and 13q31.1) were genome-wide significant and explained 1.8% of the variability suggesting that additional variants influence early change in neurological deficits. We used functional genomics and bioinformatic annotation to identify the genes driving the association from each locus. Expression quantitative trait loci mapping and summary data-based Mendelian randomization indicate that ADAM23 (log Bayes factor = 5.41) was driving the association for 2q33.3. Gene-based analyses suggested that GRIA1 (log Bayes factor = 5.19), which is predominantly expressed in the brain, is the gene driving the association for the 5q33.2 locus. These analyses also nominated GNPAT (log Bayes factor = 7.64) ABCB5 (log Bayes factor = 5.97) for the 1p21.1 and 7p21.1 loci. Human brain single-nuclei RNA-sequencing indicates that the gene expression of ADAM23 and GRIA1 is enriched in neurons. ADAM23, a presynaptic protein and GRIA1, a protein subunit of the AMPA receptor, are part of a synaptic protein complex that modulates neuronal excitability. These data provide the first genetic evidence in humans that excitotoxicity may contribute to early neurological instability after acute ischaemic stroke.
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- 2022
3. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease
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Duperron, Marie-Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David-Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching-Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Rundek, Tatjana, Sargurupremraj, Muralidharan, Schilling, Sabrina, Setoh, Kazuya, Soukarieh, Omar, Tabara, Yasuharu, Teumer, Alexander, Thalamuthu, Anbupalam, Trollor, Julian N., Valdés Hernández, Maria C., Vernooij, Meike W., Völker, Uwe, Wittfeld, Katharina, Wong, Tien Yin, Wright, Margaret J., Zhang, Junyi, Zhao, Wanting, Zhu, Yi-Cheng, Schmidt, Helena, Sachdev, Perminder S., Wen, Wei, Yoshida, Kazumichi, Joutel, Anne, Satizabal, Claudia L., Sacco, Ralph L., Bourque, Guillaume, Lathrop, Mark, Paus, Tomas, Fernandez-Cadenas, Israel, Yang, Qiong, Mazoyer, Bernard, Boutinaud, Philippe, Okada, Yukinori, Grabe, Hans J., Mather, Karen A., Schmidt, Reinhold, Joliot, Marc, Ikram, M. Arfan, Matsuda, Fumihiko, Tzourio, Christophe, Wardlaw, Joanna M., Seshadri, Sudha, Adams, Hieab H. H., and Debette, Stéphanie
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- 2023
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4. Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomised clinical trial
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Aguilar-Uroz, Adrià, Rosell-García-Ufano, Adrià, Escudero Planas, Adrián, Baelo, Aida, Villahoz Martín, Ainhoa, Moreno López, Alberto, Roldan Ruiz, Alberto, Santana Briongos, Alberto, Tejera Bodas, Alberto, Alonso-Vallés, Alejandro, Fletes-Pérez, Alejandro, Hueso-Mor, Alejandro, Boluda, Alex, Santamaria, Alex, Diestro, Alicia Santos, Revuelta-Álvarez, Almudena, Moreno Moreno, Álvaro, Ortega de Felipe, Ana, Chen-Ye, Ana, Blázquez Valerón, Ana, Rodríguez Pérez, Ana Belén, Tristán Morgalo, Ana Laura, Fernández-Allende, Ana Luisa, Bagán-Trejo, Andrea, Fernández Juan, Andrés, Zalve-Cano, Ángel, Mateo-Martínez, Anna, Galván, Antonio Valero, Egidos-Plaja, Antonio, Jorge, Ariadna, Fraile Torres, Arturo, Pareja Leal, Azahara Maria, Viader Castro, Bárbara, Fernandez Beato, Barbara, Naveira Menchen, Barbara, Martin Poyatos, Beatriz, García-Martínez, Beatriz, Rodrigo Testillano, Belén, Blanco Tejedor, Belen, López Pérez, Blanca, Mencía Hernanz, Blanca, González-Beiras, Camila, Batres, Carlos, Nuñez Garcia, Carmen, Merino-Rodríguez, Carmen, Rodríguez-Gilabert, Carolina, Bonilla Penedo, Celia, Casado Gomez, Christian, Gonzalez Perez, Claudia, Galindo-Tomás, Claudia, Peral Bolaños, Cristina, Blanco-Montes, Cristina, Lupu-Yakovleva, Cristina, Lopez Ruiz, Cristina, Perez Mayoral, Cristina, Fornes, Cristina, Garcia Corrochano, Cristobal, Gallardo Álvarez, Daniel, Navarro Sanz, Daniel, Sanz Barrio, David, Ramet Meseguer, Debora, Vera-Jurado, Edna Margarita, Perez Costa, Eduardo, Bustillos-Sebastian, Eilen Junet, Palomar Casado, Elena, Guerrero, Elena Dorrego, Medina Mateos, Elena, Aragón Gaspar, Elisa Rebeca, Herrero-Vila, Elisabeth, Paez Herrera, Enriqueta, Rojas Powel, Esmeralda, Robres Medialdea, Esther, Vall-Ribalta, Esther, Lopez Perez, Eva, Mihaela Fer, Felicia, Vazquez Ángeles, Fernanda, Tirado Bejarano, Fernando, Prats-Domenech, Ferran, Borràs Martí, Ferran, Ardila-Mejia, Gabriela, Costes, Gèlia, Gómez Arquero, Gema, Flores Mateo, Gemma, Pintos-Morell, Guillem, Mira-Centelles, Helena, Astola Requena, Ignacio, Ortega Martin, Ignacio, Leivas-Gutierrez, Iker, Escribano Valenciano, Irene, Muñoz Gomez, Irene, Ortega, Irina, Montserrat-Lloan, Isabel, Gamboa, Itziar, Rodríguez de Torres de Paul, Jacobo, Cahís, Jordi, Muñoz-Martinez, Jordi, Bermejo, Jorge Iglesias, Cejas López, Joselvis Virginia, Canudas, Josep, García Lucas, Juan Antonio, Martínez-Pino, Juan Carlos, Torres Martínez, Juana, Pujol-Corney, Judit, González Jiménez, Judith, Gurí, Júlia, Labella Martín, Julio, Garcia-Cano, Laia, Perez Plata, Lara Sonsoles, Muñoz Álvaro, Laura, Rodríguez Andrés, Laura, Vega Ruiz, Laura, Cuevas Valiente, Laura, Díaz Rodríguez, Laura, Puigros, Laura, Cristina Piciorang, Lavinia, Escudero, Leticia, Figueroa Caballero, Liliana, Ferrerfàbrega-Costals, Lluna, Costafreda-Hernández, Lucía, De-Paúl, Lucía, González Fernández-Medina, Luis, Moliner Prada, M<ce:sup loc='post">a</ce:sup> Carmen, Berriochoa Martínez de Pisón, M<ce:sup loc='post">a</ce:sup> Cristina, Blanco Blasco, Maria, Gil Jorge, Maria, Cortijo Caballero, María, Ubals, Maria, Gordillo, Maria, Guilloto López, Maria Alicia, Moreno Calvo, Maria Concepción, Gil García, María del Rosario, Dueñas Román, María Inmaculada, Gonzalez Sanchez, Maria Josefa, Nicolás Campoy, María Luisa, González Velayos, Maria Luz, Zori, Mario Mejías, Maqueda, Mario Oliva, Caño de la Cruz, Mario, Palau-Morral, Mariona, Martín-Muñoz, Marta, Cereceda Meca, Marta, Díaz Urbina, Marta, VerónicaPlazas, Martha, Vall-Mayans, Martí, Blasco, Martí, Jane Chu-Sifuentes, Mary, García de Villasladad Peñaranda, Miguel, Hernanz Sotoca, Miguel, Iglesias Gonzalez, Miguel, Labrador-Galván, Miguel Ángel, Rodrigo de Vivar Azcarate, Miguel, Gil-Fibla, Miquel, Formentí-Pallarés, Miquel, Esteve-Tugues, Mireia, Juanes Perez, Miriam, López Rubio, Miriam, Recuero Renales, Mirian, Hijós-Rullo, Mònica, Lleonart-Abadia, Montserrat, Finelli, Nadia, Rojas-Bertier, Naiara, Reyes-Calderón, Nataly, Casado Larrañaga, Nerea, Zurita Castrosin, Nerea Nuria, Álvarez-Nieto, Noélia, Leiva-Mora, Nuria, Tomillo-Martín, Olga, Belghazi, Omar, Buscà, Oriol, Mendoza Cediel, Pablo, Macedo, Pablo, Rodríguez Barroso, Patricia, Ruiz Álvarez, Patricia, López, Patricia Morales, Vara de Rey, Patricia Jimenez, Ginés, Paz Lozano, Bris Rodriguez, Pilar, Martínez-Alamillo, Pilar, Salmerón Martínez, Rafa, Botello Ariza, Raquel, Vaquero Mena, Raquel, González-Alonso, Raquel, Kaczmarczyk, Raul, Barnadas Vintró, Rita, Hontecillas Martínez, Rodrigo, Ribot-Rodríguez, Rosa, Escobar-Sánchez, Rosa, Montes Trinidad, Rosario Paloma, Martínez Quintana, Rubén, Arnay Arrogante, Ruben, Berjon Sanchez, Ruben, Picazo Navarro, Ruben, Bastos, Rubén, Martín Molinero, Samuel, Israel-Benchaya, Samuel Dan, Muñoz-Burguillo, Sandra, Rodríguez-Salvador, Sandra, Avila, Sara, Corral Gayubas, Sara, Nuñez Sánchez, Sergio, Torres Weber, Sofía, Encabo Lopez, Susana, Torices Rasines, Teresa, Sallas, Valentí, Curto-Vicente, Verónica, Gómez Hijosa, Verónica, Daimiel-Pedrote, Verónica, Gozalo, Verónica, Barrios López, Vicente, Castillo Montoya, Virginia Ivette, Espinoza Pérez, Yuri, CristinaBerriochoa Martínez de Pisón, María, Muñoz Castillo, David, Donato, Carlos, García García, Isabel, Alemany, Andrea, Millat-Martinez, Pere, Corbacho-Monné, Marc, Suñer, Clara, Galvan-Casas, Cristina, Carrera, Caty, Ouchi, Dan, Prat, Núria, Ara, Jordi, Nadal, Nuria, Riel, Ricard, Funollet, Blanca, Ojeda-Ciurana, Carmen, Balague, Lluis Esteve, Salvador-González, Betlem, Arcarons, Anna Forcada, Vidal-Alaball, Josep, Del Cura-González, María Isabel, Barrientos, Ricardo Rodríguez, Ramos-Blanes, Rafel, Bou, Alberto Alum, Mondou, Elsa, Torres, Mireia, Campins, Neus, Sanz, Ana, Tang, Yonggiang, Rodriguez-Arias, Miquel Àngel, Bassat, Quique, Clotet, Bonaventura, and Mitjà, Oriol
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- 2023
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5. Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
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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, Bustamante, Mariana, Caso, Valeria, Cheng, Yu‐Ching, Hoan Choi, Seung, Chowhan, Ayesha, Cullell, Natalia, Dartigues, Jean‐François, Delavaran, Hossein, Delgado, Pilar, Dörr, Marcus, Engström, Gunnar, Ford, Ian, Gurpreet, Wander S, Hamsten, Anders, Heitsch, Laura, Hozawa, Atsushi, Ibanez, Laura, Ilinca, Andreea, Ingelsson, Martin, Iwasaki, Motoki, Jackson, Rebecca D, Jood, Katarina, Jousilahti, Pekka, Kaffashian, Sara, Kalra, Lalit, Kamouchi, Masahiro, Kitazono, Takanari, Kjartansson, Olafur, Kloss, Manja, Koudstaal, Peter J, Krupinski, Jerzy, Labovitz, Daniel L, Laurie, Cathy C, Levi, Christopher R, Li, Linxin, Lind, Lars, Lindgren, Cecilia M, Lioutas, Vasileios, Mei Liu, Yong, Lopez, Oscar L, Makoto, Hirata, Martinez‐Majander, Nicolas, Matsuda, Koichi, Minegishi, Naoko, Montaner, Joan, Morris, Andrew P, Muiño, Elena, Müller‐Nurasyid, Martina, Norrving, Bo, Ogishima, Soichi, Parati, Eugenio A, Reddy Peddareddygari, Leema, Pedersen, Nancy L, Pera, Joanna, Perola, Markus, Pezzini, 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, and Dichgans, Martin
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- 2022
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6. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
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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, Chasman, Daniel I, 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, Haessler, Jeffrey, Harris, Tamara B, Hassan, Ahamad, Havulinna, Aki S, Heckbert, Susan R, Holliday, Elizabeth G, Howard, George, Hsu, Fang-Chi, Hyacinth, Hyacinth I, Ikram, M Arfan, 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, Kooperberg, Charles, 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, Psaty, Bruce M, Pulit, Sara L, Rannikmäe, Kristiina, Reiner, Alexander P, Rexrode, Kathryn M, Rice, Kenneth, Rich, Stephen S, Ridker, Paul M, Rost, Natalia S, Rothwell, Peter M, Rotter, Jerome I, Rundek, Tatjana, Sacco, Ralph L, Sakaue, Saori, and Sale, Michele M
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Biological Sciences ,Genetics ,Human Genome ,Stroke ,Clinical Research ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Cardiovascular ,Computational Biology ,Databases ,Genetic ,Epigenesis ,Genetic ,Female ,Gene Regulatory Networks ,Genetic Loci ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Humans ,INDEL Mutation ,Linkage Disequilibrium ,Male ,Models ,Genetic ,Polymorphism ,Single Nucleotide ,Risk Factors ,AFGen Consortium ,Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium ,International Genomics of Blood Pressure (iGEN-BP) Consortium ,INVENT Consortium ,STARNET ,BioBank Japan Cooperative Hospital Group ,COMPASS Consortium ,EPIC-CVD Consortium ,EPIC-InterAct Consortium ,International Stroke Genetics Consortium ,METASTROKE Consortium ,Neurology Working Group of the CHARGE Consortium ,NINDS Stroke Genetics Network ,UK Young Lacunar DNA Study ,MEGASTROKE Consortium ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32. We further found shared genetic variation with related vascular traits, including blood pressure, cardiac traits, and venous thromboembolism, at individual loci (n = 18), and using genetic risk scores and linkage-disequilibrium-score regression. Several loci exhibited distinct association and pleiotropy patterns for etiological stroke subtypes. Eleven new susceptibility loci indicate mechanisms not previously implicated in stroke pathophysiology, with prioritization of risk variants and genes accomplished through bioinformatics analyses using extensive functional datasets. Stroke risk loci were significantly enriched in drug targets for antithrombotic therapy.
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- 2018
7. Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
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Muiño, Elena, Maisterra, Olga, Jiménez-Balado, Joan, Cullell, Natalia, Carrera, Caty, Torres-Aguila, Nuria P., Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, Lledós, Miquel, González-Sánchez, Jonathan, Olmos-Alpiste, Ferran, Espejo, Eva, March, Álvaro, Pujol, Ramón, Rodríguez-Campello, Ana, Romeral, Gemma, Krupinski, Jurek, Martí-Fàbregas, Joan, Montaner, Joan, Roquer, Jaume, and Fernández-Cadenas, Israel
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- 2021
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8. Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
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Muiño, Elena, primary, Gallego-Fabrega, Cristina, primary, Cullell, Natalia, primary, Carrera, Caty, primary, Torres, Nuria, primary, Krupinski, Jurek, primary, Roquer, Jaume, primary, Montaner, Joan, primary, and Fernández-Cadenas, Israel, primary
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- 2020
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9. Early Neurological Change After Ischemic Stroke Is Associated With 90-Day Outcome
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Heitsch, Laura, Ibanez, Laura, Carrera, Caty, Binkley, Michael M., Strbian, Daniel, Tatlisumak, Turgut, Bustamante, Alejandro, Ribó, Marc, Molina, Carlos, Dávalos, Antoni, López-Cancio, Elena, Muñoz-Narbona, Lucia, Soriano-Tárraga, Carol, Giralt-Steinhauer, Eva, Obach, Victor, Slowik, Agnieszka, Pera, Joanna, Lapicka-Bodzioch, Katarzyna, Derbisz, Justyna, Sobrino, Tomás, Castillo, José, Campos, Francisco, Rodríguez-Castro, Emilio, Arias-Rivas, Susana, Segura, Tomas, Serrano-Heras, Gemma, Vives-Bauza, Cristófol, Díaz-Navarro, Rosa, Tur, Silva, Jimenez, Carmen, Martí-Fàbregas, Joan, Delgado-Mederos, Raquel, Arenillas, Juan, Krupinski, Jerzy, Cullell, Natalia, Torres-Aguila, Nuria P., Muiño, Elena, Cárcel-Márquez, Jara, Moniche, Francisco, Cabezas, Juan A., Ford, Andria L., Dhar, Rajat, Roquer, Jaume, Khatri, Pooja, Jiménez-Conde, Jordi, Fernandez-Cadenas, Israel, Montaner, Joan, Rosand, Jonathan, Cruchaga, Carlos, and Lee, Jin-Moo
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- 2021
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10. Role of PATJ in Stroke Prognosis by modulating Endothelial to Mesenchymal Transition through the Hippo/Notch/PI3K Axis.
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Vives-Bauza, Cristofol, primary, Medina-Dols, Aina, additional, Cañellas, Guillem, additional, Capó, Toni, additional, Sole, Montserrat, additional, Mola-Caminal, Marina, additional, Culell, Natalia, additional, Jaume, Marina, additional, Nadal, Laura, additional, Llinas, Jaume, additional, Gomez, Lluis, additional, Tur, Silvia, additional, Jimenez, Carmen, additional, Diaz-Navarro, Rosa, additional, Carrera, Caty, additional, Muiño, Elena, additional, Gallego-Fabriga, Cristina, additional, Soriano-Tarraga, Carolina, additional, Ruiz-Guerra, Laura, additional, Pol-Fuster, Josep, additional, Asensio, Victor, additional, Muncunill, Josep, additional, Fleischer, Aarne, additional, Iglesias, Amanda, additional, Giralt-Steinhauer, Eva, additional, Lazcano, Uxue, additional, Fernández-Pérez, Isabel, additional, Gabriel-Salazar, Marina, additional, Torres-Aguila, Nuria, additional, Carcel-Marquez, Jara, additional, Llado, Jeronia, additional, Olmos, Gabriel, additional, Rosell, Anna, additional, Montaner, Joan, additional, Planas, Anna, additional, Rabionet, Raquel, additional, Hernández-Guillamón, Mar, additional, Jimenez-Conde, Jordi, additional, and Fernandez-Cadenas, Israel, additional
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- 2023
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11. Genome-Wide Association Study of White Blood Cell Counts in Patients With Ischemic Stroke
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Torres-Aguila, Nuria P., Carrera, Caty, Giese, Anne-Katrine, Cullell, Natalia, Muiño, Elena, Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, González-Sánchez, Jonathan, del Mar Freijo, María, Álvarez-Sabín, José, Molina, Carlos, Ribó, Marc, Jimenez-Conde, Jordi, Roquer, Jaume, Sobrino, Tomás, Campos, Francisco, Castillo, José, Muñoz-Narbona, Lucia, Lopez-Cancio, Elena, Dàvalos, Antoni, Diaz-Navarro, Rosa, Tur, Silvia, Vives-Bauza, Cristòfol, Serrano-Heras, Gemma, Segura, Tomás, Krupinski, Jerzy, Delgado-Mederos, Raquel, Martí-Fàbregas, Joan, Heitsch, Laura, Ibañez, Laura, Cruchaga, Carlos, Rost, Natalia S., Montaner, Joan, Lee, Jin-Moo, and Fernandez-Cadenas, Israel
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- 2019
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12. Role of TRAF3 in neurological and cardiovascular diseases: an overview of recent studies
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Cullell Natalia, Muiño Elena, Carrera Caty, Torres Nuria, Krupinski Jerzy, and Fernandez-Cadenas Israel
- Subjects
epigenetics ,ewas ,genetics ,stroke ,traf3 ,Biology (General) ,QH301-705.5 - Abstract
Tumour necrosis factor receptor-associated factor 3 (TRAF3) is a member of the TRAF adaptor protein family, which exerts different effects on the cell depending on the receptor to which it binds and the cell type in which it is expressed. TRAF3 is a major regulator of the innate immune response. To perform its functions properly, TRAF3 is transcriptionally and epigenetically regulated. At the transcriptional level, TRAF3 expression has been associated with neurological and cardiovascular diseases including stroke, among other pathologies. Epigenetic modifications of TRAF3 have been observed at the histone and DNA levels. It has been observed that acetylation of TRAF3, as well as other NF-κβ target genes, is associated with cardiac hypertrophy. Furthermore, TRAF3 methylation has been associated with vascular recurrence after ischemic stroke in patients treated with clopidogrel. In this overview, we summarise the most interesting studies related to transcriptional and epigenetic regulation of TRAF3 focusing on those studies performed in neurological and cardiovascular diseases.
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- 2017
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13. Subcutaneous anti-COVID-19 hyperimmune immunoglobulin for prevention of disease in asymptomatic individuals with SARS-CoV-2 infection: a double-blind, placebo-controlled, randomised clinical trial
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Alemany, Andrea, primary, Millat-Martinez, Pere, additional, Corbacho-Monné, Marc, additional, Suñer, Clara, additional, Galvan-Casas, Cristina, additional, Carrera, Caty, additional, Ouchi, Dan, additional, Prat, Núria, additional, Ara, Jordi, additional, Nadal, Nuria, additional, Riel, Ricard, additional, Funollet, Blanca, additional, Ojeda-Ciurana, Carmen, additional, Balague, Lluis Esteve, additional, Salvador-González, Betlem, additional, Arcarons, Anna Forcada, additional, Vidal-Alaball, Josep, additional, Del Cura-González, María Isabel, additional, Barrientos, Ricardo Rodríguez, additional, Ramos-Blanes, Rafel, additional, Bou, Alberto Alum, additional, Mondou, Elsa, additional, Torres, Mireia, additional, Campins, Neus, additional, Sanz, Ana, additional, Tang, Yonggiang, additional, Rodriguez-Arias, Miquel Àngel, additional, Bassat, Quique, additional, Clotet, Bonaventura, additional, Mitjà, Oriol, additional, Aguilar-Uroz, Adrià, additional, Rosell-García-Ufano, Adrià, additional, Escudero Planas, Adrián, additional, Baelo, Aida, additional, Villahoz Martín, Ainhoa, additional, Moreno López, Alberto, additional, Roldan Ruiz, Alberto, additional, Santana Briongos, Alberto, additional, Tejera Bodas, Alberto, additional, Alonso-Vallés, Alejandro, additional, Fletes-Pérez, Alejandro, additional, Hueso-Mor, Alejandro, additional, Boluda, Alex, additional, Santamaria, Alex, additional, Diestro, Alicia Santos, additional, Revuelta-Álvarez, Almudena, additional, Moreno Moreno, Álvaro, additional, Ortega de Felipe, Ana, additional, Chen-Ye, Ana, additional, Blázquez Valerón, Ana, additional, Rodríguez Pérez, Ana Belén, additional, Tristán Morgalo, Ana Laura, additional, Fernández-Allende, Ana Luisa, additional, Bagán-Trejo, Andrea, additional, Fernández Juan, Andrés, additional, Zalve-Cano, Ángel, additional, Mateo-Martínez, Anna, additional, Galván, Antonio Valero, additional, Egidos-Plaja, Antonio, additional, Jorge, Ariadna, additional, Fraile Torres, Arturo, additional, Pareja Leal, Azahara Maria, additional, Viader Castro, Bárbara, additional, Fernandez Beato, Barbara, additional, Naveira Menchen, Barbara, additional, Martin Poyatos, Beatriz, additional, García-Martínez, Beatriz, additional, Rodrigo Testillano, Belén, additional, Blanco Tejedor, Belen, additional, López Pérez, Blanca, additional, Mencía Hernanz, Blanca, additional, González-Beiras, Camila, additional, Batres, Carlos, additional, Nuñez Garcia, Carmen, additional, Merino-Rodríguez, Carmen, additional, Rodríguez-Gilabert, Carolina, additional, Bonilla Penedo, Celia, additional, Casado Gomez, Christian, additional, Gonzalez Perez, Claudia, additional, Galindo-Tomás, Claudia, additional, Peral Bolaños, Cristina, additional, Blanco-Montes, Cristina, additional, Lupu-Yakovleva, Cristina, additional, Lopez Ruiz, Cristina, additional, Perez Mayoral, Cristina, additional, Fornes, Cristina, additional, Garcia Corrochano, Cristobal, additional, Gallardo Álvarez, Daniel, additional, Navarro Sanz, Daniel, additional, Sanz Barrio, David, additional, Ramet Meseguer, Debora, additional, Vera-Jurado, Edna Margarita, additional, Perez Costa, Eduardo, additional, Bustillos-Sebastian, Eilen Junet, additional, Palomar Casado, Elena, additional, Guerrero, Elena Dorrego, additional, Medina Mateos, Elena, additional, Aragón Gaspar, Elisa Rebeca, additional, Herrero-Vila, Elisabeth, additional, Paez Herrera, Enriqueta, additional, Rojas Powel, Esmeralda, additional, Robres Medialdea, Esther, additional, Vall-Ribalta, Esther, additional, Lopez Perez, Eva, additional, Mihaela Fer, Felicia, additional, Vazquez Ángeles, Fernanda, additional, Tirado Bejarano, Fernando, additional, Prats-Domenech, Ferran, additional, Borràs Martí, Ferran, additional, Ardila-Mejia, Gabriela, additional, Costes, Gèlia, additional, Gómez Arquero, Gema, additional, Flores Mateo, Gemma, additional, Pintos-Morell, Guillem, additional, Mira-Centelles, Helena, additional, Astola Requena, Ignacio, additional, Ortega Martin, Ignacio, additional, Leivas-Gutierrez, Iker, additional, Escribano Valenciano, Irene, additional, Muñoz Gomez, Irene, additional, Ortega, Irina, additional, Montserrat-Lloan, Isabel, additional, Gamboa, Itziar, additional, Rodríguez de Torres de Paul, Jacobo, additional, Cahís, Jordi, additional, Muñoz-Martinez, Jordi, additional, Bermejo, Jorge Iglesias, additional, Cejas López, Joselvis Virginia, additional, Canudas, Josep, additional, García Lucas, Juan Antonio, additional, Martínez-Pino, Juan Carlos, additional, Torres Martínez, Juana, additional, Pujol-Corney, Judit, additional, González Jiménez, Judith, additional, Gurí, Júlia, additional, Labella Martín, Julio, additional, Garcia-Cano, Laia, additional, Perez Plata, Lara Sonsoles, additional, Muñoz Álvaro, Laura, additional, Rodríguez Andrés, Laura, additional, Vega Ruiz, Laura, additional, Cuevas Valiente, Laura, additional, Díaz Rodríguez, Laura, additional, Puigros, Laura, additional, Cristina Piciorang, Lavinia, additional, Escudero, Leticia, additional, Figueroa Caballero, Liliana, additional, Ferrerfàbrega-Costals, Lluna, additional, Costafreda-Hernández, Lucía, additional, De-Paúl, Lucía, additional, González Fernández-Medina, Luis, additional, Moliner Prada, Ma Carmen, additional, Berriochoa Martínez de Pisón, Ma Cristina, additional, Blanco Blasco, Maria, additional, Gil Jorge, Maria, additional, Cortijo Caballero, María, additional, Ubals, Maria, additional, Gordillo, Maria, additional, Guilloto López, Maria Alicia, additional, Moreno Calvo, Maria Concepción, additional, Gil García, María del Rosario, additional, Dueñas Román, María Inmaculada, additional, Gonzalez Sanchez, Maria Josefa, additional, Nicolás Campoy, María Luisa, additional, González Velayos, Maria Luz, additional, Zori, Mario Mejías, additional, Maqueda, Mario Oliva, additional, Caño de la Cruz, Mario, additional, Palau-Morral, Mariona, additional, Martín-Muñoz, Marta, additional, Cereceda Meca, Marta, additional, Díaz Urbina, Marta, additional, VerónicaPlazas, Martha, additional, Vall-Mayans, Martí, additional, Blasco, Martí, additional, Jane Chu-Sifuentes, Mary, additional, García de Villasladad Peñaranda, Miguel, additional, Hernanz Sotoca, Miguel, additional, Iglesias Gonzalez, Miguel, additional, Labrador-Galván, Miguel Ángel, additional, Rodrigo de Vivar Azcarate, Miguel, additional, Gil-Fibla, Miquel, additional, Formentí-Pallarés, Miquel, additional, Esteve-Tugues, Mireia, additional, Juanes Perez, Miriam, additional, López Rubio, Miriam, additional, Recuero Renales, Mirian, additional, Hijós-Rullo, Mònica, additional, Lleonart-Abadia, Montserrat, additional, Finelli, Nadia, additional, Rojas-Bertier, Naiara, additional, Reyes-Calderón, Nataly, additional, Casado Larrañaga, Nerea, additional, Zurita Castrosin, Nerea Nuria, additional, Álvarez-Nieto, Noélia, additional, Leiva-Mora, Nuria, additional, Tomillo-Martín, Olga, additional, Belghazi, Omar, additional, Buscà, Oriol, additional, Mendoza Cediel, Pablo, additional, Macedo, Pablo, additional, Rodríguez Barroso, Patricia, additional, Ruiz Álvarez, Patricia, additional, López, Patricia Morales, additional, Vara de Rey, Patricia Jimenez, additional, Ginés, Paz Lozano, additional, Bris Rodriguez, Pilar, additional, Martínez-Alamillo, Pilar, additional, Salmerón Martínez, Rafa, additional, Botello Ariza, Raquel, additional, Vaquero Mena, Raquel, additional, González-Alonso, Raquel, additional, Kaczmarczyk, Raul, additional, Barnadas Vintró, Rita, additional, Hontecillas Martínez, Rodrigo, additional, Ribot-Rodríguez, Rosa, additional, Escobar-Sánchez, Rosa, additional, Montes Trinidad, Rosario Paloma, additional, Martínez Quintana, Rubén, additional, Arnay Arrogante, Ruben, additional, Berjon Sanchez, Ruben, additional, Picazo Navarro, Ruben, additional, Bastos, Rubén, additional, Martín Molinero, Samuel, additional, Israel-Benchaya, Samuel Dan, additional, Muñoz-Burguillo, Sandra, additional, Rodríguez-Salvador, Sandra, additional, Avila, Sara, additional, Corral Gayubas, Sara, additional, Nuñez Sánchez, Sergio, additional, Torres Weber, Sofía, additional, Encabo Lopez, Susana, additional, Torices Rasines, Teresa, additional, Sallas, Valentí, additional, Curto-Vicente, Verónica, additional, Gómez Hijosa, Verónica, additional, Daimiel-Pedrote, Verónica, additional, Gozalo, Verónica, additional, Barrios López, Vicente, additional, Castillo Montoya, Virginia Ivette, additional, Espinoza Pérez, Yuri, additional, CristinaBerriochoa Martínez de Pisón, María, additional, Muñoz Castillo, David, additional, Donato, Carlos, additional, and García García, Isabel, additional
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- 2023
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14. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease
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Duperron, Marie Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Teumer, Alexander, Vernooij, Meike W., Wong, Tien Yin, Schmidt, Helena, Ikram, M. Arfan, Adams, Hieab H.H., Duperron, Marie Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Teumer, Alexander, Vernooij, Meike W., Wong, Tien Yin, Schmidt, Helena, Ikram, M. Arfan, and Adams, Hieab H.H.
- Abstract
Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.6 yr, 96.9% European ancestry) revealed 24 genome-wide significant PVS risk loci, mainly in the white matter. These were associated with white matter PVS already in young adults (N = 1,748; 22.1 ± 2.3 yr) and were enriched in early-onset leukodystrophy genes and genes expressed in fetal brain endothelial cells, suggesting early-life mechanisms. In total, 53% of white matter PVS risk loci showed nominally significant associations (27% after multiple-testing correction) in a Japanese population-based cohort (N = 2,862; 68.3 ± 5.3 yr). Mendelian randomization supported causal associations of high blood pressure with basal ganglia and hippocampal PVS, and of basal ganglia PVS and hippocampal PVS with stroke, accounting for blood pressure. Our findings provide insight into the biology of PVS and cerebral small vessel disease, pointing to pathways involving extracellular matrix, membrane transport and developmental processes, and the potential for genetically informed prioritization of drug targets.
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- 2023
15. Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA
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Carrera, Caty, Cullell, Natalia, Torres-Águila, Nuria, Muiño, Elena, Bustamante, Alejandro, Dávalos, Antonio, López-Cancio, Elena, Ribó, Marc, Molina, Carlos A., Giralt-Steinhauer, Eva, Soriano-Tárraga, Carolina, Mola-Caminal, Marina, Jiménez-Conde, Jordi, Roquer, Jaume, Vives-Bauza, Cristófol, Navarro, Rosa Díaz, Obach, Victor, Arenillas, Juan Francisco, Segura, Tomás, Serrano-Heras, Gemma, Martí-Fàbregas, Joan, Freijo, Marimar, Cabezas, Juan Antonio, Tatlisumak, Turgut, Heitsch, Laura, Ibañez, Laura, Cruchaga, Carlos, Lee, Jin-Moo, Strbian, Daniel, Montaner, Joan, and Fernández-Cadenas, Israel
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- 2019
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16. Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study
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Larsson, Susanna C., Traylor, Matthew, Burgess, Stephen, Boncoraglio, Giorgio B., Jern, Christina, Michaëlsson, Karl, Markus, Hugh S., 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, raci M, Benavente, Oscar R, Bevan, Steve, Boncoraglio, Giorgio B, Brown, Robert D, Jr., Butterworth, Adam S, Carrera, Caty, Carty, Cara L, Chasman, Daniel I, Chen, Wei-Min, Cole, John W, Correa, Adolfo, Cotlarciuc, Ioana, Cruchaga, Carlos, Danesh, John, de Bakker, Paul IW, DeStefano, Anita L, Hoed, Marcel den, Duan, Qing, Engelter, Stefan T, Falcone, Guido J, Gottesman, Rebecca F, Grewal, Raji P, Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeffrey, Harris, Tamara B, Hassan, Ahamad, Havulinna, Aki S, Heckbert, Susan R, Holliday, Elizabeth G, Howard, George, Hsu, Fang-Chi, Hyacinth, Hyacinth I, Ikram, M Arfan, 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, Kooperberg, Charles, 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, OʼDonnell, Martin J, Psaty, Bruce M, Pulit, Sara L, Rannikmäe, Kristiina, Reiner, Alexander P, Rexrode, Kathryn M, Rice, Kenneth, Rich, Stephen S, Ridker, Paul M, Rost, Natalia S, Rothwell, Peter M, Rotter, Jerome I, 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, Trompet, Stella, Tzourio, Christophe, van Duijn, Cornelia M, Walters, Matthew, Wareham, Nicholas J, Wassertheil-Smoller, Sylvia, Wilson, James G, Wiggins, Kerri L, Yang, Qiong, Yusuf, Salim, Amin, Najaf, Aparicio, Hugo S, Arnett, Donna K, Attia, John, Beiser, Alexa S, Berr, Claudine, Buring, Julie E, Bustamante, Mariana, Caso, Valeria, Cheng, Yu-Ching, Choi, Seung Hoan, Chowhan, Ayesha, Cullell, Natalia, Dartigues, Jean-François, Delavaran, Hossein, Delgado, Pilar, Dörr, Marcus, Engström, Gunnar, Ford, Ian, Gurpreet, Wander S, Hamsten, Anders, Heitsch, Laura, Hozawa, Atsushi, Ibanez, Laura, Ilinca, Andreea, Ingelsson, Martin, Iwasaki, Motoki, Jackson, Rebecca D, Jood, Katarina, Jousilahti, Pekka, Kaffashian, Sara, Kalra, Lalit, Kamouchi, Masahiro, Kitazono, Takanari, Kjartansson, Olafur, Kloss, Manja, Koudstaal, Peter J, Krupinski, Jerzy, Labovitz, Daniel L, Laurie, Cathy C, Levi, Christopher R, Li, Linxin, Lind, Lars, Lindgren, Cecilia M, Lioutas, Vasileios, Liu, Yong Mei, Lopez, Oscar L, Makoto, Hirata, Martinez-Majander, Nicolas, Matsuda, Koichi, Minegishi, Naoko, Montaner, Joan, Morris, Andrew P, Muiño, Elena, Müller-Nurasyid, Martina, Norrving, Bo, Ogishima, Soichi, Parati, Eugenio A, Peddareddygari, Leema Reddy, Pedersen, Nancy L, Pera, Joanna, Perola, Markus, Pezzini, 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, Stine, O Colin, 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, Jr, 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, and Dichgans, Martin
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- 2019
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17. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting
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Chauhan, Ganesh, Adams, Hieab H.H., Satizabal, Claudia L., Bis, Joshua C., Teumer, Alexander, Sargurupremraj, Muralidharan, Hofer, Edith, Trompet, Stella, Hilal, Saima, Smith, Albert Vernon, Jian, Xueqiu, Malik, Rainer, Traylor, Matthew, Pulit, Sara L., Amouyel, Philippe, Mazoyer, Bernard, Zhu, Yi-Cheng, Kaffashian, Sara, Schilling, Sabrina, Beecham, Gary W., Montine, Thomas J., Schellenberg, Gerard D., Kjartansson, Olafur, Guðnason, Vilmundur, Knopman, David S., Griswold, Michael E., Windham, B. Gwen, Gottesman, Rebecca F., Mosley, Thomas H., Schmidt, Reinhold, Saba, Yasaman, Schmidt, Helena, Takeuchi, Fumihiko, Yamaguchi, Shuhei, Nabika, Toru, Kato, Norihiro, Rajan, Kumar B., Aggarwal, Neelum T., De Jager, Philip L., Evans, Denis A., Psaty, Bruce M., Rotter, Jerome I., Rice, Kenneth, Lopez, Oscar L., Liao, Jiemin, Chen, Christopher, Cheng, Ching-Yu, Wong, Tien Y., Ikram, Mohammad K., van der Lee, Sven J., Amin, Najaf, Chouraki, Vincent, DeStefano, Anita L., Aparicio, Hugo J., Romero, Jose R., Maillard, Pauline, DeCarli, Charles, Wardlaw, Joanna M., Hernández, Maria del C. Valdés, Luciano, Michelle, Liewald, David, Deary, Ian J., Starr, John M., Bastin, Mark E., Muñoz Maniega, Susana, Slagboom, P. Eline, Beekman, Marian, Deelen, Joris, Uh, Hae-Won, Lemmens, Robin, Brodaty, Henry, Wright, Margaret J., Ames, David, Boncoraglio, Giorgio B., Hopewell, Jemma C., Beecham, Ashley H., Blanton, Susan H., Wright, Clinton B., Sacco, Ralph L., Wen, Wei, Thalamuthu, Anbupalam, Armstrong, Nicola J., Chong, Elizabeth, Schofield, Peter R., Kwok, John B., van der Grond, Jeroen, Stott, David J., Ford, Ian, Jukema, J. 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Tan, Rhea, Danesh, John, Rutten-Jacobs, Loes, Donatti, Amanda, Avelar, Wagner, Broderick, Joseph, Woo, Daniel, Sudlow, Cathie, Rannikmae, Kristiina, McDonough, Caitrin Wheeler, van Agtmael, Tom, Walters, Matthew, Söderholm, Martin, Lorentzen, Erik, Olsson, Sandra, Stanne, Tara, Olsson, Martina, Akinyemi, Rufus, Cotlatciuc, Ioana, McArdle, Patrick, Dave, Tushar, Kittner, Steven, Attia, John, Faber, James E, Millwood, Iona, Márquez, Elsa Valdés, Mancuso, Michelangelo, Vibo, Riina, Korv, Janika, Maguire, Jane, Fornage, Myriam, Majersik, Jennifer, DeHavenon, Adam, Alexander, Matthew, Sale, Michele, Southerland, Andrew, Owens, Debra, Psaty, Bruce, Longstreth, W. 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Michael, Barnes, Lisa L., Barral, Sandra, Beach, Thomas G., Becker, James T., Beecham, Gary W., Beekly, Duane, Bennett, David A., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Boxer, Adam, Burke, James R., Burns, Jeffrey M., Buxbaum, Joseph D., Byrd, Goldie S., Cai, Guiqing, Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Duara, Ranjan, Ertekin-Taner, Nilufer, Evans, Denis A., Faber, Kelley M., Fallin, M. 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- 2019
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18. PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis
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Mola-Caminal, Marina, Carrera, Caty, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Díaz-Navarro, Rosa M., Tur, Sílvia, Jiménez, Carmen, Medina-Dols, Aina, Cullell, Natàlia, Torres-Aguila, Nuria P., Muiño, Elena, Rodríguez-Campello, Ana, Ois, Angel, Cuadrado-Godia, Elisa, Vivanco-Hidalgo, Rosa M., Hernandez-Guillamon, Mar, Solé, Montse, Delgado, Pilar, Bustamante, Alejandro, García-Berrocoso, Teresa, Mendióroz, Maite, Castellanos, Mar, Serena, Joaquín, Martí-Fàbregas, Joan, Segura, Tomás, Serrano-Heras, Gemma, Obach, Victor, Ribó, Marc, Molina, Carlos A., Alvarez-Sabín, José, Palomeras, Ernest, Freijo, Mar, Font, Maria A., Rosand, Jonathan, Rost, Natalia S., Gallego-Fabrega, Cristina, Lee, Jin-Moo, Heitsch, Laura, Ibanez, Laura, Cruchaga, Carlos, Phuah, Chia-Ling, Lemmens, Robin, Thijs, Vincent, Lindgren, Arne, Maguire, Jane, Rannikmae, Kristiina, Sudlow, Catherine L., Jern, Christina, Stanne, Tara M., Lorentzen, Erik, Muñoz-Narbona, Lucía, Dávalos, Antonio, López-Cancio, Elena, Worrall, Bradford B., Woo, Daniel, Kittner, Steven J., Mitchell, Braxton D., Montaner, Joan, Roquer, Jaume, Krupinski, Jurek, Estivill, Xavier, Rabionet, Raquel, Vives-Bauzá, Cristòfol, Fernández-Cadenas, Israel, and Jiménez-Conde, Jordi
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- 2019
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19. Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
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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 H. H., Ago, Tetsuro, Almgren, Peter, Amouyel, Philippe, Ay, Hakan, Bartz, Traci M., Benavente, Oscar R., Bevan, Steve, Boncoraglio, Giorgio B., Brown, Jr, Robert D., Butterworth, Adam S., Carrera, Caty, Carty, Cara L., Chasman, Daniel I., Chen, Wei-Min, Cole, John W., Correa, Adolfo, Cotlarciuc, Ioana, Cruchaga, Carlos, Danesh, John, de Bakker, Paul I. W., DeStefano, Anita L., den Hoed, Marcel, Duan, Qing, Engelter, Stefan T., Falcone, Guido J., Gottesman, Rebecca F., Grewal, Raji P., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeffrey, Harris, Tamara B., Hassan, Ahamad, Havulinna, Aki S., Heckbert, Susan R., Holliday, Elizabeth G., Howard, George, Hsu, Fang-Chi, Hyacinth, Hyacinth I., Ikram, M. Arfan, 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., Kooperberg, Charles, 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., Psaty, Bruce M., Pulit, Sara L., Rannikmäe, Kristiina, Reiner, Alexander P., Rexrode, Kathryn M., Rice, Kenneth, Rich, Stephen S., Ridker, Paul M., Rost, Natalia S., Rothwell, Peter M., Rotter, Jerome I., 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 L. M., Tanislav, Christian, Tatlisumak, Turgut, Taylor, Kent D., Thijs, Vincent N. S., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiedt, Steffen, Trompet, Stella, Tzourio, Christophe, van Duijn, Cornelia M., Walters, Matthew, Wareham, Nicholas J., Wassertheil-Smoller, Sylvia, Wilson, James G., Wiggins, Kerri L., Yang, Qiong, Yusuf, Salim, AFGen Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, International Genomics of Blood Pressure (iGEN-BP) Consortium, INVENT Consortium, STARNET, Bis, Joshua C., Pastinen, Tomi, Ruusalepp, Arno, Schadt, Eric E., Koplev, Simon, Björkegren, Johan L. M., Codoni, Veronica, Civelek, Mete, Smith, Nicholas L., Trégouët, David A., Christophersen, Ingrid E., Roselli, Carolina, Lubitz, Steven A., Ellinor, Patrick T., Tai, E. Shyong, Kooner, Jaspal S., Kato, Norihiro, He, Jiang, van der Harst, Pim, Elliott, Paul, Chambers, John C., Takeuchi, Fumihiko, Johnson, Andrew D., BioBank Japan Cooperative Hospital Group, COMPASS Consortium, EPIC-CVD Consortium, EPIC-InterAct Consortium, International Stroke Genetics Consortium (ISGC), METASTROKE Consortium, Neurology Working Group of the CHARGE Consortium, NINDS Stroke Genetics Network (SiGN), UK Young Lacunar DNA Study, MEGASTROKE Consortium, Sanghera, Dharambir K., Melander, Olle, Jern, Christina, Strbian, Daniel, Fernandez-Cadenas, Israel, Longstreth, Jr, 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 M. M., Kamatani, Yoichiro, Debette, Stephanie, and Dichgans, Martin
- Published
- 2019
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20. Stroke genetics informs drug discovery and risk prediction across ancestries
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Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jurgenson, Tuuli, Namba, Shinichi, Posner, Daniel C, Kamanu, Frederick K, Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K, Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C, Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R, Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V, Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Carcel-Marquez, Jara, Nygaard, Marianne, Leonard, Hampton L, Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J, Lewis, Adam J, Judy, Renae L, Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D, Bakker, Mark K, Bartz, Traci M, Bennett, David A, Bis, Joshua C, Bordes, Constance, Borte, Sigrid, Cain, Anael, Ridker, Paul M, Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W, de Jager, Phil L, de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E, Geerlings, Mirjam I, Gasca, Natalie C, Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K, Ho, Yuk-Lam, Havulinna, Aki S, Hopewell, Jemma C, Hyacinth, Hyacinth I, Inouye, Michael, Jacob, Mina A, Jeon, Christina E, Jern, Christina, Kamouchi, Masahiro, Keene, Keith L, Kitazono, Takanari, Kittner, Steven J, Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J, Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S, Marston, Nicholas A, Meitinger, Thomas, Mitchell, Braxton D, Montellano, Felipe A, Morisaki, Takayuki, Mosley, Thomas H, Nalls, Mike A, Nordestgaard, Borge G, O'Donnell, Martin J, Okada, Yukinori, Onland-Moret, N Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M, Rich, Stephen S, Rosand, Jonathan, Sabatine, Marc S, Sacco, Ralph L, Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L, Schmidt, Carsten O, Shimizu, Atsushi, Smith, Nicholas L, Sloane, Kelly L, Sutoh, Yoichi, Sun, Yan V, Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P, Tiwari, Hemant K, Tregouet, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjaerg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S, Wiggins, Kerri L, Wennberg, Patrik, Woo, Daniel, Wilson, Peter WF, Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Lee, Jin-Moo, Cheng, Yu-Ching, Meschia, James F, Chen, Wei Min, Sale, Michele M, Zonderman, Alan B, Evans, Michele K, Wilson, James G, Correa, Adolfo, Traylor, Matthew, Lewis, Cathryn M, Carty, Cara L, Reiner, Alexander, Haessler, Jeffrey, Langefeld, Carl D, Gottesman, Rebecca F, Yaffe, Kristine, Liu, Yong Mei, Kooperberg, Charles, Lange, Leslie A, Furie, Karen L, Arnett, Donna K, Benavente, Oscar R, Grewal, Raji P, Peddareddygari, Leema Reddy, Hveem, Kristian, Lindstrom, Sara, Wang, Lu, Smith, Erin N, Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Brumpton, Ben M, Suchon, Pierre, Chen, Ming-Huei, Frazer, Kelly A, Turman, Constance, Germain, Marine, MacDonald, James, Braekkan, Sigrid K, Armasu, Sebastian M, Pankratz, Nathan, Jackson, Rebecca D, Nielsen, Jonas B, Giulianini, Franco, Puurunen, Marja K, Ibrahim, Manal, Heckbert, Susan R, Bammler, Theo K, McCauley, Bryan M, Taylor, Kent D, Pankow, James S, Reiner, Alexander P, Gabrielsen, Maiken E, Deleuze, Jean-Francois, O'Donnell, Chris J, Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R, Heit, John A, Tang, Weihong, Morange, Pierre-Emmanuel, Johnson, Andrew D, Kabrhel, Christopher, van Dijk, Ewoud J, Koudstaal, Peter J, Luijckx, Gert-Jan, Nederkoorn, Paul J, van Oostenbrugge, Robert J, Visser, Marieke C, Wermer, Marieke JH, Kappelle, L Jaap, Esko, Tonu, Metspalu, Andres, Magi, Reedik, Nelis, Mari, Irvin, Marguerite R, de Leeuw, Frank-Erik, Levi, Christopher R, Maguire, Jane, Jimenez-Conde, Jordi, Sharma, Pankaj, Sudlow, Cathie LM, Rannikmae, Kristiina, Schmidt, Reinhold, Slowik, Agnieszka, Pera, Joanna, Thijs, Vincent NS, Lindgren, Arne G, Ilinca, Andreea, Melander, Olle, Engstrom, Gunnar, Rexrode, Kathryn M, Rothwell, Peter M, Stanne, Tara M, Johnson, Julie A, Danesh, John, Butterworth, Adam S, Heitsch, Laura, Boncoraglio, Giorgio B, Kubo, Michiaki, Pezzini, Alessandro, Rolfs, Arndt, Giese, Anne-Katrin, Weir, David, Ross, Owen A, Lemmons, Robin, Soderholm, Martin, Cushman, Mary, Jood, Katarina, McDonough, Caitrin W, Bell, Steven, Linkohr, Birgit, Lee, Tsong-Hai, Putaala, Jukka, Anderson, Christopher D, Lopez, Oscar L, Jian, Xueqiu, Schminke, Ulf, Cullell, Natalia, Delgado, Pilar, Ibanez, Laura, Krupinski, Jerzy, Lioutas, Vasileios, Matsuda, Koichi, Montaner, Joan, Muino, Elena, Roquer, Jaume, Sarnowski, Chloe, Sattar, Naveed, Sibolt, Gerli, Teumer, Alexander, Rutten-Jacobs, Loes, Kanai, Masahiro, Gretarsdottir, Solveig, Rost, Natalia S, Yusuf, Salim, Almgren, Peter, Ay, Hakan, Bevan, Steve, Brown, Robert D, Carrera, Caty, Buring, Julie E, Chen, Wei-Min, Cotlarciuc, Ioana, de Bakker, Paul IW, DeStefano, Anita L, den Hoed, Marcel, Duan, Qing, Engelter, Stefan T, Falcone, Guido J, Gustafsson, Stefan, Hassan, Ahamad, Holliday, Elizabeth G, Howard, George, Hsu, Fang-Chi, Ingelsson, Erik, Harris, Tamara B, Kissela, Brett M, Kleindorfer, Dawn O, Langenberg, Claudia, Lemmens, Robin, Leys, Didier, Lin, Wei-Yu, Lorentzen, Erik, Magnusson, Patrik K, McArdle, Patrick F, Pulit, Sara L, Rice, Kenneth, Sakaue, Saori, Sapkota, Bishwa R, Tanislav, Christian, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tzourio, Christophe, van Duijn, Cornelia M, Walters, Matthew, Wareham, Nicholas J, Amin, Najaf, Aparicio, Hugo J, Attia, John, Beiser, Alexa S, Berr, Claudine, Bustamante, Mariana, Caso, Valeria, Choi, Seung Hoan, Chowhan, Ayesha, Dartigues, Jean-Francois, Delavaran, Hossein, Dorr, Marcus, Ford, Ian, Gurpreet, Wander S, Hamsten, Anders, Hozawa, Atsushi, Ingelsson, Martin, Iwasaki, Motoki, Kaffashian, Sara, Kalra, Lalit, Kjartansson, Olafur, Kloss, Manja, Labovitz, Daniel L, Laurie, Cathy C, Li, Linxin, Lind, Lars, Lindgren, Cecilia M, Makoto, Hirata, Minegishi, Naoko, Morris, Andrew P, Muller-Nurasyid, Martina, Norrving, Bo, Ogishima, Soichi, Parati, Eugenio A, Pedersen, Nancy L, Perola, Markus, Jousilahti, Pekka, Pileggi, Silvana, Rabionet, Raquel, Riba-Llena, Iolanda, Ribases, Marta, Romero, Jose R, Rudd, Anthony G, Sarin, Antti-Pekka, Sarju, Ralhan, Satoh, Mamoru, Sawada, Norie, Sigurdsson, Asgeir, Smith, Albert, Stine, O Colin, Stott, David J, Strauch, Konstantin, Takai, Takako, Tanaka, Hideo, Touze, Emmanuel, Tsugane, Shoichiro, Uitterlinden, Andre G, Valdimarsson, Einar M, van der Lee, Sven J, Wakai, Kenji, Williams, Stephen R, Wolfe, Charles DA, Wong, Quenna, Yamaji, Taiki, Sanghera, Dharambir K, Stefansson, Kari, Martinez-Majander, Nicolas, Sobue, Kenji, Soriano-Tarraga, Carolina, Volzke, Henry, Akpa, Onoja, Sarfo, Fred S, Akpalu, Albert, Obiako, Reginald, Wahab, Kolawole, Osaigbovo, Godwin, Owolabi, Lukman, Komolafe, Morenikeji, Jenkins, Carolyn, Arulogun, Oyedunni, Ogbole, Godwin, Adeoye, Abiodun M, Akinyemi, Joshua, Agunloye, Atinuke, Fakunle, Adekunle G, Uvere, Ezinne, Olalere, Abimbola, Adebajo, Olayinka J, Chen, Junshi, Clarke, Robert, Collins, Rory, Guo, Yu, Wang, Chen, Lv, Jun, Peto, Richard, Chen, Yiping, Fairhurst-Hunter, Zammy, Hill, Michael, Pozarickij, Alfred, Schmidt, Dan, Stevens, Becky, Turnbull, Iain, Yu, Canqing, Nagai, Akiko, Murakami, Yoishinori, Shiroma, Eric J, Sigurdsson, Sigurdur, Ghanbari, Mohsen, Boerwinkle, Eric, Fongang, Bernard, Wang, Ruiqi, Ikram, Mohammad K, Volker, Uwe, de Laat, Karlijn F, van Norden, Anouk GW, de Kort, Paul L, Vermeer, Sarah E, Brouwers, Paul JAM, Gons, Rob AR, den Heijer, Tom, van Dijk, Gert W, van Rooij, Frank GW, Aamodt, Anne H, Skogholt, Anne H, Willer, Cristen J, Heuch, Ingrid, Hagen, Knut, Fritsche, Lars G, Pedersen, Linda M, Ellekjaer, Hanne, Zhou, Wei, Martinsen, Amy E, Kristoffersen, Espen S, Thomas, Laurent F, Kleinschnitz, Christoph, Frantz, Stefan, Ungethum, Kathrin, Gallego-Fabrega, Cristina, Lledos, Miquel, Llucia-Carol, Laia, Sobrino, Tomas, Campos, Francisco, Castillo, Jose, Freijo, Marimar, Arenillas, Juan Francisco, Obach, Victor, Alvarez-Sabin, Jose, Molina, Carlos A, Ribo, Marc, Munoz-Narbona, Lucia, Lopez-Cancio, Elena, Millan, Monica, Diaz-Navarro, Rosa, Vives-Bauza, Cristofol, Serrano-Heras, Gemma, Segura, Tomas, Dhar, Rajat, Delgado-Mederos, Raquel, Prats-Sanchez, Luis, Camps-Renom, Pol, Blay, Natalia, Sumoy, Lauro, Marti-Fabregas, Joan, Schnohr, Peter, Jensen, Gorm B, Benn, Marianne, Afzal, Shoaib, Kamstrup, Pia R, van Setten, Jessica, van der Laan, Sander W, Vonk, Jet MJ, Kim, Bong-Jo, Curtze, Sami, Tiainen, Marjaana, Kinnunen, Janne, Menon, Vilas, Sung, Yun Ju, Yang, Chengran, Saillour-Glenisson, Florence, Gravel, Simon, Millwood, Iona Y, Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J, Jukema, J Wouter, Rissanen, Ina L, Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna MM, Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A, Rundek, Tatjana, Worrall, Bradford B, Lathrop, G Mark, Riaz, Moeen, Simonsick, Eleanor M, Korv, Janika, Franca, Paulo HC, Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M, Heuschmann, Peter Ulrich, Longstreth, WT, Jung, Keum Ji, Bastarache, Lisa, Pare, Guillaume, Damrauer, Scott M, Chasman, Daniel I, Rotter, Jerome I, Zwart, John-Anker, Niiranen, Teemu J, Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernandez-Cadenas, Israel, Walters, Robin G, Ruff, Christian T, Owolabi, Mayowa O, Huffman, Jennifer E, Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, Debette, Stephanie, Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jurgenson, Tuuli, Namba, Shinichi, Posner, Daniel C, Kamanu, Frederick K, Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K, Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C, Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R, Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V, Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Carcel-Marquez, Jara, Nygaard, Marianne, Leonard, Hampton L, Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J, Lewis, Adam J, Judy, Renae L, Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D, Bakker, Mark K, Bartz, Traci M, Bennett, David A, Bis, Joshua C, Bordes, Constance, Borte, Sigrid, Cain, Anael, Ridker, Paul M, Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W, de Jager, Phil L, de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E, Geerlings, Mirjam I, Gasca, Natalie C, Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K, Ho, Yuk-Lam, Havulinna, Aki S, Hopewell, Jemma C, Hyacinth, Hyacinth I, Inouye, Michael, Jacob, Mina A, Jeon, Christina E, Jern, Christina, Kamouchi, Masahiro, Keene, Keith L, Kitazono, Takanari, Kittner, Steven J, Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J, Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S, Marston, Nicholas A, Meitinger, Thomas, Mitchell, Braxton D, Montellano, Felipe A, Morisaki, Takayuki, Mosley, Thomas H, Nalls, Mike A, Nordestgaard, Borge G, O'Donnell, Martin J, Okada, Yukinori, Onland-Moret, N Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M, Rich, Stephen S, Rosand, Jonathan, Sabatine, Marc S, Sacco, Ralph L, Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L, Schmidt, Carsten O, Shimizu, Atsushi, Smith, Nicholas L, Sloane, Kelly L, Sutoh, Yoichi, Sun, Yan V, Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P, Tiwari, Hemant K, Tregouet, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjaerg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S, Wiggins, Kerri L, Wennberg, Patrik, Woo, Daniel, Wilson, Peter WF, Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Lee, Jin-Moo, Cheng, Yu-Ching, Meschia, James F, Chen, Wei Min, Sale, Michele M, Zonderman, Alan B, Evans, Michele K, Wilson, James G, Correa, Adolfo, Traylor, Matthew, Lewis, Cathryn M, Carty, Cara L, Reiner, Alexander, Haessler, Jeffrey, Langefeld, Carl D, Gottesman, Rebecca F, Yaffe, Kristine, Liu, Yong Mei, Kooperberg, Charles, Lange, Leslie A, Furie, Karen L, Arnett, Donna K, Benavente, Oscar R, Grewal, Raji P, Peddareddygari, Leema Reddy, Hveem, Kristian, Lindstrom, Sara, Wang, Lu, Smith, Erin N, Gordon, William, van Hylckama Vlieg, Astrid, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Brumpton, Ben M, Suchon, Pierre, Chen, Ming-Huei, Frazer, Kelly A, Turman, Constance, Germain, Marine, MacDonald, James, Braekkan, Sigrid K, Armasu, Sebastian M, Pankratz, Nathan, Jackson, Rebecca D, Nielsen, Jonas B, Giulianini, Franco, Puurunen, Marja K, Ibrahim, Manal, Heckbert, Susan R, Bammler, Theo K, McCauley, Bryan M, Taylor, Kent D, Pankow, James S, Reiner, Alexander P, Gabrielsen, Maiken E, Deleuze, Jean-Francois, O'Donnell, Chris J, Kim, Jihye, McKnight, Barbara, Kraft, Peter, Hansen, John-Bjarne, Rosendaal, Frits R, Heit, John A, Tang, Weihong, Morange, Pierre-Emmanuel, Johnson, Andrew D, Kabrhel, Christopher, van Dijk, Ewoud J, Koudstaal, Peter J, Luijckx, Gert-Jan, Nederkoorn, Paul J, van Oostenbrugge, Robert J, Visser, Marieke C, Wermer, Marieke JH, Kappelle, L Jaap, Esko, Tonu, Metspalu, Andres, Magi, Reedik, Nelis, Mari, Irvin, Marguerite R, de Leeuw, Frank-Erik, Levi, Christopher R, Maguire, Jane, Jimenez-Conde, Jordi, Sharma, Pankaj, Sudlow, Cathie LM, Rannikmae, Kristiina, Schmidt, Reinhold, Slowik, Agnieszka, Pera, Joanna, Thijs, Vincent NS, Lindgren, Arne G, Ilinca, Andreea, Melander, Olle, Engstrom, Gunnar, Rexrode, Kathryn M, Rothwell, Peter M, Stanne, Tara M, Johnson, Julie A, Danesh, John, Butterworth, Adam S, Heitsch, Laura, Boncoraglio, Giorgio B, Kubo, Michiaki, Pezzini, Alessandro, Rolfs, Arndt, Giese, Anne-Katrin, Weir, David, Ross, Owen A, Lemmons, Robin, Soderholm, Martin, Cushman, Mary, Jood, Katarina, McDonough, Caitrin W, Bell, Steven, Linkohr, Birgit, Lee, Tsong-Hai, Putaala, Jukka, Anderson, Christopher D, Lopez, Oscar L, Jian, Xueqiu, Schminke, Ulf, Cullell, Natalia, Delgado, Pilar, Ibanez, Laura, Krupinski, Jerzy, Lioutas, Vasileios, Matsuda, Koichi, Montaner, Joan, Muino, Elena, Roquer, Jaume, Sarnowski, Chloe, Sattar, Naveed, Sibolt, Gerli, Teumer, Alexander, Rutten-Jacobs, Loes, Kanai, Masahiro, Gretarsdottir, Solveig, Rost, Natalia S, Yusuf, Salim, Almgren, Peter, Ay, Hakan, Bevan, Steve, Brown, Robert D, Carrera, Caty, Buring, Julie E, Chen, Wei-Min, Cotlarciuc, Ioana, de Bakker, Paul IW, DeStefano, Anita L, den Hoed, Marcel, Duan, Qing, Engelter, Stefan T, Falcone, Guido J, Gustafsson, Stefan, Hassan, Ahamad, Holliday, Elizabeth G, Howard, George, Hsu, Fang-Chi, Ingelsson, Erik, Harris, Tamara B, Kissela, Brett M, Kleindorfer, Dawn O, Langenberg, Claudia, Lemmens, Robin, Leys, Didier, Lin, Wei-Yu, Lorentzen, Erik, Magnusson, Patrik K, McArdle, Patrick F, Pulit, Sara L, Rice, Kenneth, Sakaue, Saori, Sapkota, Bishwa R, Tanislav, Christian, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tzourio, Christophe, van Duijn, Cornelia M, Walters, Matthew, Wareham, Nicholas J, Amin, Najaf, Aparicio, Hugo J, Attia, John, Beiser, Alexa S, Berr, Claudine, Bustamante, Mariana, Caso, Valeria, Choi, Seung Hoan, Chowhan, Ayesha, Dartigues, Jean-Francois, Delavaran, Hossein, Dorr, Marcus, Ford, Ian, Gurpreet, Wander S, Hamsten, Anders, Hozawa, Atsushi, Ingelsson, Martin, Iwasaki, Motoki, Kaffashian, Sara, Kalra, Lalit, Kjartansson, Olafur, Kloss, Manja, Labovitz, Daniel L, Laurie, Cathy C, Li, Linxin, Lind, Lars, Lindgren, Cecilia M, Makoto, Hirata, Minegishi, Naoko, Morris, Andrew P, Muller-Nurasyid, Martina, Norrving, Bo, Ogishima, Soichi, Parati, Eugenio A, Pedersen, Nancy L, Perola, Markus, Jousilahti, Pekka, Pileggi, Silvana, Rabionet, Raquel, Riba-Llena, Iolanda, Ribases, Marta, Romero, Jose R, Rudd, Anthony G, Sarin, Antti-Pekka, Sarju, Ralhan, Satoh, Mamoru, Sawada, Norie, Sigurdsson, Asgeir, Smith, Albert, Stine, O Colin, Stott, David J, Strauch, Konstantin, Takai, Takako, Tanaka, Hideo, Touze, Emmanuel, Tsugane, Shoichiro, Uitterlinden, Andre G, Valdimarsson, Einar M, van der Lee, Sven J, Wakai, Kenji, Williams, Stephen R, Wolfe, Charles DA, Wong, Quenna, Yamaji, Taiki, Sanghera, Dharambir K, Stefansson, Kari, Martinez-Majander, Nicolas, Sobue, Kenji, Soriano-Tarraga, Carolina, Volzke, Henry, Akpa, Onoja, Sarfo, Fred S, Akpalu, Albert, Obiako, Reginald, Wahab, Kolawole, Osaigbovo, Godwin, Owolabi, Lukman, Komolafe, Morenikeji, Jenkins, Carolyn, Arulogun, Oyedunni, Ogbole, Godwin, Adeoye, Abiodun M, Akinyemi, Joshua, Agunloye, Atinuke, Fakunle, Adekunle G, Uvere, Ezinne, Olalere, Abimbola, Adebajo, Olayinka J, Chen, Junshi, Clarke, Robert, Collins, Rory, Guo, Yu, Wang, Chen, Lv, Jun, Peto, Richard, Chen, Yiping, Fairhurst-Hunter, Zammy, Hill, Michael, Pozarickij, Alfred, Schmidt, Dan, Stevens, Becky, Turnbull, Iain, Yu, Canqing, Nagai, Akiko, Murakami, Yoishinori, Shiroma, Eric J, Sigurdsson, Sigurdur, Ghanbari, Mohsen, Boerwinkle, Eric, Fongang, Bernard, Wang, Ruiqi, Ikram, Mohammad K, Volker, Uwe, de Laat, Karlijn F, van Norden, Anouk GW, de Kort, Paul L, Vermeer, Sarah E, Brouwers, Paul JAM, Gons, Rob AR, den Heijer, Tom, van Dijk, Gert W, van Rooij, Frank GW, Aamodt, Anne H, Skogholt, Anne H, Willer, Cristen J, Heuch, Ingrid, Hagen, Knut, Fritsche, Lars G, Pedersen, Linda M, Ellekjaer, Hanne, Zhou, Wei, Martinsen, Amy E, Kristoffersen, Espen S, Thomas, Laurent F, Kleinschnitz, Christoph, Frantz, Stefan, Ungethum, Kathrin, Gallego-Fabrega, Cristina, Lledos, Miquel, Llucia-Carol, Laia, Sobrino, Tomas, Campos, Francisco, Castillo, Jose, Freijo, Marimar, Arenillas, Juan Francisco, Obach, Victor, Alvarez-Sabin, Jose, Molina, Carlos A, Ribo, Marc, Munoz-Narbona, Lucia, Lopez-Cancio, Elena, Millan, Monica, Diaz-Navarro, Rosa, Vives-Bauza, Cristofol, Serrano-Heras, Gemma, Segura, Tomas, Dhar, Rajat, Delgado-Mederos, Raquel, Prats-Sanchez, Luis, Camps-Renom, Pol, Blay, Natalia, Sumoy, Lauro, Marti-Fabregas, Joan, Schnohr, Peter, Jensen, Gorm B, Benn, Marianne, Afzal, Shoaib, Kamstrup, Pia R, van Setten, Jessica, van der Laan, Sander W, Vonk, Jet MJ, Kim, Bong-Jo, Curtze, Sami, Tiainen, Marjaana, Kinnunen, Janne, Menon, Vilas, Sung, Yun Ju, Yang, Chengran, Saillour-Glenisson, Florence, Gravel, Simon, Millwood, Iona Y, Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J, Jukema, J Wouter, Rissanen, Ina L, Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna MM, Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A, Rundek, Tatjana, Worrall, Bradford B, Lathrop, G Mark, Riaz, Moeen, Simonsick, Eleanor M, Korv, Janika, Franca, Paulo HC, Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M, Heuschmann, Peter Ulrich, Longstreth, WT, Jung, Keum Ji, Bastarache, Lisa, Pare, Guillaume, Damrauer, Scott M, Chasman, Daniel I, Rotter, Jerome I, Zwart, John-Anker, Niiranen, Teemu J, Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernandez-Cadenas, Israel, Walters, Robin G, Ruff, Christian T, Owolabi, Mayowa O, Huffman, Jennifer E, Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie
- Abstract
Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries.
- Published
- 2022
21. GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence After Stroke
- Author
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Fernández-Cadenas, Israel, Mendióroz, Maite, Giralt, Dolors, Nafria, Cristina, Garcia, Elena, Carrera, Caty, Gallego-Fabrega, Cristina, Domingues-Montanari, Sophie, Delgado, Pilar, Ribó, Marc, Castellanos, Mar, Martínez, Sergi, Freijo, Marimar, Jiménez-Conde, Jordi, Rubiera, Marta, Alvarez-Sabín, José, Molina, Carlos A., Font, Maria Angels, Grau Olivares, Marta, Palomeras, Ernest, Perez de la Ossa, Natalia, Martinez-Zabaleta, Maite, Masjuan, Jaime, Moniche, Francisco, Canovas, David, Piñana, Carlos, Purroy, Francisco, Cocho, Dolores, Navas, Inma, Tejero, Carlos, Aymerich, Nuria, Cullell, Natalia, Muiño, Elena, Serena, Joaquín, Rubio, Francisco, Davalos, Antoni, Roquer, Jaume, Arenillas, Juan Francisco, Martí-Fábregas, Joan, Keene, Keith, Chen, Wei-Min, Worrall, Bradford, Sale, Michele, Arboix, Adrià, Krupinski, Jerzy, and Montaner, Joan
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- 2017
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22. PPM1A Methylation Is Associated With Vascular Recurrence in Aspirin-Treated Patients
- Author
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Gallego-Fabrega, Cristina, Carrera, Caty, Reny, Jean-Luc, Fontana, Pierre, Slowik, Agnieszka, Pera, Joanna, Pezzini, Alessandro, Serrano-Heras, Gemma, Segura, Tomás, Bin Dukhyil, Abdul-Aziz A., Martí-Fàbregas, Joan, Muiño, Elena, Cullell, Natalia, Montaner, Joan, Krupinski, Jerzy, and Fernandez-Cadenas, Israel
- Published
- 2016
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23. TRAF3 Epigenetic Regulation Is Associated With Vascular Recurrence in Patients With Ischemic Stroke
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Gallego-Fabrega, Cristina, Carrera, Caty, Reny, Jean-Luc, Fontana, Pierre, Slowik, Agnieszka, Pera, Joanna, Pezzini, Alessandro, Serrano-Heras, Gemma, Segura, Tomás, Martí-Fàbregas, Joan, Muiño, Elena, Cullell, Natalia, Montaner, Joan, Krupinski, Jerzy, and Fernandez-Cadenas, Israel
- Published
- 2016
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24. Genetic Polymorphisms in Apolipoprotein E and Glutathione Peroxidase 1 Genes in the Ecuadorian Population Affected With Alzheimer’s Disease
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Paz-y-Miño, César, López-Cortés, Andrés, Muñoz, María José, Cumbal, Nadia, Castro, Bernardo, Cabrera, Alejandro, Sánchez, María Eugenia, and Carrera, Caty
- Published
- 2010
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25. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease
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Debette, Stéphanie, primary, Duperron, Marie-Gabrielle, additional, Knol, Maria, additional, Grand, Quentin Le, additional, Evans, Tavia, additional, Mishra, Aniket, additional, Roshchupkin, Gennady, additional, Konuma, Takahiro, additional, Trégouët, David-Alexandre, additional, Romero, Jose, additional, Frenzel, Stefan, additional, Luciano, Michelle, additional, Hofer, Edith, additional, Bourgey, Mathieu, additional, Dueker, Nicole, additional, Delgado, Pilar, additional, Hilal, Saima, additional, Tankard, Rick, additional, Dubost, Florian, additional, Shin, Jean, additional, Saba, Yasaman, additional, Armstrong, Nicola, additional, Bordes, Constance, additional, Bastin, Mark, additional, Beiser, Alexa, additional, Brodaty, Henry, additional, Bülow, Robin, additional, Carrera, Caty, additional, Chen, Christopher P., additional, Cheng, Ching-Yu, additional, Deary, Ian, additional, Gampawar, Piyush G., additional, Himali, Jayandra, additional, Jiang, Jiyang, additional, Li, Shuo, additional, Macalli, Melissa, additional, Marquis, Pascale, additional, Morris, Zoe, additional, Maniega, Susanna Muñoz, additional, Paradise, Matthew, additional, Pedram, Parva, additional, Rundek, Tatjana, additional, Sargurupremraj, Murali, additional, Schilling, Sabrina, additional, Soukarieh, Omar (TBC), additional, Teumer, Alexander, additional, Thalamuthu, Anbupalam, additional, Trollor, Julian, additional, Tsuchida, Ami, additional, Hernández, Maria Valdés, additional, Vernooij, Meike, additional, Völker, Uwe, additional, Wittfeld, Katharina, additional, Wong, Tien Yin, additional, Wright, Margaret, additional, Yang, Qiong, additional, Zhang, Junyi, additional, Zhao, Wanting, additional, Zhu, Ycheng, additional, Schmidt, Helena, additional, Sachdev, Perminder, additional, Wen, Wei, additional, JOUTEL, Anne, additional, Satizabal, Claudia, additional, Sacco, Ralph, additional, Bourque, Guillaume, additional, Lathrop, Mark, additional, Paus, Tomas, additional, Fernandez-Cadenas, Israel, additional, Mazoyer, Bernard, additional, Okada, Yukinori, additional, Grabe, Hans, additional, Mather, Karen, additional, Schmidt, Reinhold, additional, Ikram, M. Arfan, additional, Tzourio, Christophe, additional, Wardlaw, Joanna, additional, Seshadri, Sudha, additional, and Adams, Hieab, additional
- Published
- 2021
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26. Clinical Variables and Genetic Risk Factors Associated with the Acute Outcome of Ischemic Stroke: A Systematic Review
- Author
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Torres-Aguila, Nuria P, Carrera, Caty, Muiño, Elena, Cullell, Natalia, Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, González-Sánchez, Jonathan, Bustamante, Alejandro, Delgado Martínez, María Pilar, Ibañez, Laura, Heitsch, Laura, Krupinski, Jerzy, Montaner, Joan, Martí-Fàbregas, Joan, Cruchaga, Carlos, Lee, Jin-Moo, Fernandez Cadenas, Israel, Universitat Autònoma de Barcelona, and Instituto de Salud Carlos III
- Subjects
medicine.medical_specialty ,lcsh:Diseases of the circulatory (Cardiovascular) system ,Clinical variables ,Review ,030204 cardiovascular system & hematology ,Outcome (game theory) ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,medicine ,Genetics ,genetics ,cardiovascular diseases ,Genetic risk ,Stroke ,Genetic association ,Outcome ,business.industry ,Atrial fibrillation ,medicine.disease ,stroke ,clinical variables ,Blood pressure ,lcsh:RC666-701 ,Ischemic stroke ,outcome ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,business ,030217 neurology & neurosurgery - Abstract
Stroke is a complex disease and one of the main causes of morbidity and mortality among the adult population. A huge variety of factors is known to influence patient outcome, including demographic variables, comorbidities or genetics. In this review, we expound what is known about the influence of clinical variables and related genetic risk factors on ischemic stroke outcome, focusing on acute and subacute outcome (within 24 to 48 hours after stroke and until day 10, respectively), as they are the first indicators of stroke damage. We searched the PubMed data base for articles that investigated the interaction between clinical variables or genetic factors and acute or subacute stroke outcome. A total of 61 studies were finally included in this review. Regarding the data collected, the variables consistently associated with acute stroke outcome are: glucose levels, blood pressure, presence of atrial fibrillation, prior statin treatment, stroke severity, type of acute treatment performed, severe neurological complications, leukocyte levels, and genetic risk factors. Further research and international efforts are required in this field, which should include genome-wide association studies., Alejandro Bustamante is supported by a Juan Rodes research contract from Carlos III Health Institute (JR16/00008). Israel Fernandez-Cadenas is the recipient of a research contract from the Miguel Servet Program from the Carlos III Health Institute (Instituto de Salud Carlos III) (CPII17/00021).
- Published
- 2019
27. NURR1 Involvement in Recombinant Tissue-Type Plasminogen Activator Treatment Complications After Ischemic Stroke
- Author
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Merino-Zamorano, Cristina, Hernández-Guillamon, Mar, Jullienne, Amandine, Le Béhot, Audrey, Bardou, Isabelle, Parés, Mireia, Fernández-Cadenas, Israel, Giralt, Dolors, Carrera, Caty, Ribó, Marc, Vivien, Denis, Ali, Carine, Rosell, Anna, and Montaner, Joan
- Published
- 2015
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28. RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis
- Author
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Muiño, Elena, primary, Cárcel-Márquez, Jara, additional, Carrera, Caty, additional, Llucià-Carol, Laia, additional, Gallego-Fabrega, Cristina, additional, Cullell, Natalia, additional, Lledós, Miquel, additional, Castillo, José, additional, Sobrino, Tomás, additional, Campos, Francisco, additional, Rodríguez-Castro, Emilio, additional, Millán, Mònica, additional, Muñoz-Narbona, Lucía, additional, Bustamante, Alejandro, additional, López-Cancio, Elena, additional, Ribó, Marc, additional, Álvarez-Sabín, José, additional, Jiménez-Conde, Jordi, additional, Roquer, Jaume, additional, Giralt-Steinhauer, Eva, additional, Soriano-Tárraga, Carolina, additional, Vives-Bauza, Cristófol, additional, Díaz-Navarro, Rosa, additional, Tur, Silvia, additional, Obach, Victor, additional, Arenillas, Juan, additional, Segura, Tomás, additional, Serrano-Heras, Gemma, additional, Martí-Fàbregas, Joan, additional, Delgado-Mederos, Raquel, additional, Camps-Renom, Pol, additional, Prats-Sánchez, Luis, additional, Guisado, Daniel, additional, Guasch, Marina, additional, Marin, Rebeca, additional, Martínez-Domeño, Alejandro, additional, Freijo-Guerrero, Maria, additional, Moniche, Francisco, additional, Cabezas, Juan, additional, Castellanos, Mar, additional, Krupinsky, Jerzy, additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Lemmens, Robin, additional, Slowik, Agnieszka, additional, Pera, Joanna, additional, Heitsch, Laura, additional, Ibañez, Laura, additional, Cruchaga, Carlos, additional, Dhar, Rajat, additional, Lee, Jin-Moo, additional, Montaner, Joan, additional, Fernández-Cadenas, Israel, additional, Consortium, on, additional, and Consortium, the, additional
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- 2021
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29. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
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Bakker, Mark K., van der Spek, Rick A.A., van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C., Alg, Varinder S., van Eijk, Kristel R., Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G., Lin, Kuang, Li, Liming, Millwood, Iona Y., Chen, Zhengming, Rouleau, Guy A., Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie L.M., Houlden, Henry, van den Berg, Leonard H., Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S., Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M., Sandvei, Marie Søfteland, Willer, Cristen J., Hveem, Kristian, Zwart, John-Anker, Verschuren, W. M. Monique, Friedrich, Christoph M., Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Martinsen, Amy E, Aamodt, Anne Hege, Skogholt, Anne Heidi, Sandset, Else Charlotte, Kristoffersen, Espen S, Ellekjaer, Hanne, Heuch, Ingrid, Nielsen, Jonas Bille, Hagen, Knut, Fritsche, Lars, Thomas, Laurent F., Pedersen, Linda, Gabrielsen, Maiken E, Vigeland, Maria Dehli, Holmen, Oddgeir, Zhou, Wei, Chen, Junshi, Chen (PI), Zhengming, Clarke, Robert, Collins, Rory, Guo, Yu, Li (PI), Liming, Liu, Depei, Lv, Jun, Peto, Richard, Walters, Robin, Avery, Daniel, Boxall, Ruth, Bennett, Derrick, Chang, Yumei, Chen, Yiping, Du, Huaidong, Gan, Wei, Gilbert, Simon, Hacker, Alex, Hill, Michael, Holmes, Michael, Iona, Andri, Kartsonaki, Christiana, Kerosi, Rene, Kong, Ling, Lancaster, Garry, Lewington, Sarah, McDonnell, John, Millwood, Iona, Nie, Qunhua, Ryder, Paul, Sansome, Sam, Schmidt-Valle, Dan, Sherliker, Paul, Sohoni, Rajani, Stevens, Becky, Turnbull, Iain, Wang, Lin, Wright, Neil, Yang, Ling, Yang, Xiaoming, Yao, Pang, Bian, Zheng, Han, Xiao, Hou, Can, Pei, Pei, Liu, Chao, Yu, Canqing, Pang, Zengchang, Gao, Ruqin, Li, Shanpeng, Wang, Shaojie, Liu, Yongmei, Du, Ranran, Cheng, Liang, Tian, Xiaocao, Zhang, Hua, Zhai, Yaoming, Ning, Feng, Sun, Xiaohui, Li, Feifei, Lv, Silu, Wang, Junzheng, Hou, Wei, Zou, Mingyuan, Yan, Shichun, Zhou, Xue, Yu, Bo, Li, Yanjie, Xu, Qinai, Kang, Quan, Guo, Ziyan, Wang, Dan, Hu, Ximin, Chen, Jinyan, Fu, Yan, Wang, Xiaohuan, Weng, Min, Guo, Zhendong, Wu, Shukuan, Li, Yilei, Li, Huimei, Wu, Ming, Zhou, Yonglin, Zhou, Jinyi, Tao, Ran, Yang, Jie, Su, Jian, liu, Fang, Zhang, Jun, Hu, Yihe, Lu, Yan, Ma, Liangcai, Tang, Aiyu, Hua, Yujie, Jin, Jianrong, Liu, Jingchao, Tang, Zhenzhu, Chen, Naying, Huang, Ying, Li, Mingqiang, Meng, Jinhuai, Pan, Rong, Jiang, Qilian, Lan, Jian, Liu, Yun, Wei, Liuping, Zhou, Liyuan, Chen, Ningyu, Wang, Ping, Meng, Fanwen, Qin Sisi Wang, Yulu, Wu, Xianping, Zhang, Ningmei, Chen, Xiaofang, Zhou, Weiwei, Luo, Guojin, Li, Jianguo, Zhong, Xunfu, Liu, Jiaqiu, Sun, Qiang, Ge, Pengfei, Ren, Xiaolan, Dong, Caixia, Zhang, Hui, Mao, Enke, Wang, Xiaoping, Wang, Tao, Zhang, Xi, Zhou, Ding Zhang, Zhou, Gang, Feng, Shixian, Chang, Ling, Fan, Lei, Gao, Yulian, He, Tianyou, Sun, Huarong, He, Pan, Hu, Chen, Zhang, Xukui, Wu, Huifang, Yu, Min, Hu, Ruying, Wang, Hao, Gong, Weiwei, Wang, Meng, Xie, Kaixu, Chen, Lingli, Pan, Dongxia, Gu, Qijun, Huang, Yuelong, Chen, Biyun, Yin, Li, Liu, Huilin, Fu, Zhongxi, Xu, Qiaohua, Xu, Xin, Zhang, Hao, Long, Huajun, Zhang, Libo, Nagai, Akiko, Muto, Kaori, Hirata, Makoto, Morisaki, Takayuki, Yamashita, Yasushi, Kamatani, Yoichiro, Kambara, Yoko, Murakami, Yoshinori, Masumoto, Akihide, Nagayama, Satoshi, Miki, Yoshio, Yoshimori, Kozo, Fujioka, Tomoaki, Takata, Ryo, Yamaji, Ken, Takahashi, Kazuhisa, Asai, Satoshi, Takahashi, Yasuo, Minami, Shiro, Yamaguchi, Hiroki, Koretsune, Yukihiro, Nishizawa, Yasuko, Kodama, Ken, Kutsumi, Hiromu, Suzuki, Takao, Sinozaki, Nobuaki, Murayama, Shigeo, Furukawa, Yoichi, Yamanashi, Yuji, Papagiannaki, Chrisanthi, Piotin, Michel, Trystram, Denis, Edjlali-Goujon, Myriam, Boulouis, Grégoire, Rodriguez, Christine, Hassen, Waghi Ben, Saleme, Suzanna, Mounayer, Charbel, Rouchaud, Aymeric, Levrier, Olivier, Aguettaz, Pierre, Combaz, Xavier, Pasco, Anne, l’Allinec, Vincent, Bintner, Marc, Molho, Marc, Pascale, Gauthier, Chivot, Cyril, Costalat, Vincent, Darganzil, Cyril, Bonafé, Alain, Januel, Anne Christine, Michelozzi, Caterina, Cognard, Christophe, Bonneville, Fabrice, Tall, Philippe, Darcourt, Jean, Biondi, Alessandra, Iosif, Cristina, Ferre, Jean Christophe, Gauvrit, Jean Yves, Eugene, François, Raoult, Hélène, Gentric, Jean Christophe, Ognard, Julien, Anxionnat, René, Gory, Benjamin, Bracard, Serge, Derelle, Anne Laure, Tonnelet, Romain, Spelle, Laurent, Ikka, Léon, Ozanne, Augustin, Gallas, Sophie, Caroff, Jildaz, Achour, Nidal Ben, Moret, Jacques, Chabert, Emmanuel, Berge, Jérôme, Marnat, Gaultier, Barreau, Xavier, Gariel, Florent, Clarencon, Frédéric, Aggour, Mohammed, Ricolfi, Frédéric, Chavent, Adrien, Thouant, Pierre, Lebidinsky, Pablo, Lemogne, Brivael, Herbreteau, Denis, Bibi, Richard, Janot, Kevin, Pierot, Laurent, Soize, Sébastien, Labeyrie, Marc Antoine, Vandendries, Christophe, Kazemi, Appoline, Leclerc, Xavier, Pruvo, Jean Pierre, Bricout, Nicolas, Velasco, Stéphane, Boucebci, Samy, Lemmens, Robin, Pandolfo, Massimo, Bodenant, Marie, Louillet, Fabien, Mas, Jean-Louis, Deltour, Sandrine, Leder, Sara, Léger, Anne, Canaple, Sandrine, Godefroy, Olivier, Giroud, Maurice, Jacquin, Agnès, Moulin, Thierry, Vuillier, Fabrice, Tzourio, Christophe, Santos, Michael Dos, Malik, Rainer, Hausser, Ingrid, Thomas-Feles, Constanze, Weber, Ralf, Grond-Ginsbach, Caspar, Hacke, Werner, Giossi, Alessia, Volonghi, Irene, Costa, Paolo, del Zotto, Elisabetta, Morotti, Andrea, Poli, Loris, Muiesan, Maria Lorenza, Salvetti, Massimo, Rosei, Enrico Agabiti, Lanfranconi, Silvia, Baron, Pierluigi, Ferrarese, Carlo, Susani, Emanuela, Giacalone, Giacomo, Paolucci, Stefano, Palmirotta, Raffaele, Guadagni, Fiorella, Paciaroni, Maurizio, Ballabio, Elena, Parati, Eugenio A., Fluri, Felix, Hatz, Florian, Gisler, Dominique, Amort, Margareth, Bevan, Steve, James, Tom, Olsson, Sandra, Holmegaard, Lukas, Altintas, Ayse, Martin, Juan José, Kittner, Steven, Mitchell, Braxton, Stine, Colin, O’Connell, Jeff, Dueker, Nicole, Koudstaal, Peter J., de Lau, Lonneke M.L., Hofman, Albert, Verhaaren, Benjamin F, Uitterlinden, Andre G, Montaner, Joan, Mendioroz, Maite, Yadav, Sunaina, Khan, Muhammad Saleem, Wilder, Michael, van Dijk, Ewoud, Maaijwee, Noortje, Rutten-Jacobs, Loes, Kramer, Jamie, Malik, Shaneela, Brott, Thomas G, Brown, Robert D, Singleton, Andrew, Hardy, John, Rich, Stephen S, Tanislav, Christian, Jungehülsing, Jan, Werring, David, Alg, Varinder, Hostettler, Isabel, Bonner, Stephen, Walsh, Daniel, Bulters, Diederik, Kitchen, Neil, Brown, Martin, Grieve, Joan, Roberts, Gareth, Jones, Timothy, Critchley, Giles, Sharma, Pankaj, Nelson, Richard, Whitfield, Peter, Ross, Stuart, Patel, Hiren, Eldridge, Paul, Saastamoinen, Kari, Patel, Umang, Lawrance, Enas, Vandabona, Subha, Mendelow, David, Teal, Rachel, Warner, Orlando, Kirkpatrick, Peter, Seshadri, Sudha, Kilarski, Laura, Hyacinth, Hyacinth I, Oliveira, Jamary, Marini, Sandro, Nyquist, Paul, Lewis, Cathryn, Norrving, Bo, Smith, Gustav, Rosand, Jonathan, Biffi, Alessandro, Kourkoulis, Christina, Anderson, Chris, Giese, Anne-Katrin, Bang, Oh Young, Chung, Jong-Won, Kim, Gyeong-Moon, Zhuang, Qishuai, Sheu, Wayne, Smalley, June, Howson, Joanna, Granata, Alessandra, Markus, Hugh, Wardlaw, Joanna, Cole, John, Thalamuthu, Anbupalam, Hopewell, Jemma, Worrall, Bradford, Bis, Josh, Tirschwell, David, Reiner, Alex, Dhar, Raj, Lee, Jin-Moo, Mortenson, Janne, Wassertheil-Smoller, Sylvia, Prasad, Kameshwar, Fisher, Mark, Traenka, Christopher, Wang, Xingwu, Wang, Yongjun, Rouanet, Francois, Sibon, Igor, Sarnowski, Chloé, Maillard, Pauline, Aparicio, Hugo Javier, Dupuis, Josee, Yang, Qiong, Luvizutto, Gustavo, Chasman, Daniel, Rexrode, Kathryn, Harriot, Andrea, Phuah, Chia-Ling, Santo, Gustavo, Gerard, Jen, Liu, Guiyou, Aaron, Sanjith, Christudass, Christhunesa S., Salomi, BSB, Sanghera, Dharambir, Boehme, Amelia, Elkind, Mitchell, Gretarsdottir, Solveig, Lange, Leslie, Rost, Natalia, James, Michael, Stewart, Jill, Goldstein, Larry, Waddy, Salina, Vojinovic, Dina, Ikram, Arfan, Thijs, Vincent, Parati, Eugenio, Boncoraglio, Giorgio, Kooperberg, Charles, Abboud, Sherrine, Zand, Ramin, Bijlenga, Philippe, Selim, Magdy, Happola, Olli, Strbian, Daniel, Tomppo, Liisa, Pathak, Abhishek, Pfeiffer, Dorothea, Aires, de Buenos, de Carvalho, Joao Jose Freitas, Ribeiro, Priscila, Torres, Nuria, Barboza, Miguel, Plomaritoglou, Androniki, Bjorkegren, Johan, Chan, Yu-Feng Yvonne, Gudnason, Villi, Jimenez-Conde, Jordi, Soriano, Carolina, Roquer, Jaume, Bentley, Paul, Tournier-Lasserve, Elisabeth, Dufouil, Carole, Debette, Stephanie, Mishra, Aniket, Wee, Lawrence, Siddiqi, Saima, Wu, Jer-Yuarn, Ko, Tai-Ming, Bione, Silvia, Jood, Katarina, Tatlisumak, Turgut, Arauz, Antonio, Korostynski, Michal, Launer, Lenore, Yue, Suo, bersano, anna, Juchniewicz, Karol Józef, Mateusz, Adamski, Pera, Joanna, Wnuk, Marcin, Levi, Christopher, Gusdon, Aaron, Kostulas, Konstantinos, Maxwell, Jessye, Duering, Marco, Jagiella, Jeremiasz, Hata, Jun, Ninomiya, Toshiharu, Nguyen, Vinh, Thorarinsson, Bjorn Logi, Lee, Tsong-Hai, Rakitko, Alexandr, Dichgans, Martin, Lindgren, Arne, Wasselius, Johan, Drake, Mattias, Stenman, Martin, Ilinca, Andreea, Staals, Julie, Sadr-Nabavi, Ariane, Crawford, Katherine, Lena, Umme, Mateen, Farrah, Ay, Hakan, Wu, Ona, Schirmer, Markus, Romero, Javier, Cramer, Steve, Golland, Polina, Mueller, Bertram, Brown, Robert, Meschia, James, Ross, Owen A., Pare, Guillaume, Chong, Mike, mansour, Ossama yassin, Karaszewski, Bartosz, Enzinger, Christian, Schmidt, Reinhold, Seiler, Stephan, Pichler, Alexander, Ovbiagele, Bruce, Yamada, Yoshiji, Rundek, Tatjana, Blanton, Susan, P, John, Chern, Joseph, O'Donnell, Chris, Corriveau, Roderick, Bhattacharya, Pallab, Gwinn, Katrina, CHANDRA, BHARATENDU, Chen, Christopher, Kalaria, Raj, Koenig, Jim, Singh, Om Prakash, Olugbodi, Akintomi, Giralt, Eva, Saleheen, Danish, de Leeuw, Frank-Erik, Klijn, Karin, Olesen, Jes, Kubo, Michiaki, Spence, David, Pedersen, Annie, Olsson, Maja, Martín, Juan José, Braga, Gabriel, Xu, Huichun, Assimes, Tim, Raskurazhev, Anton, Lee, Wei Ling, Burri, Philippe, Frid, Petrea, GmbH, Heilbronn, Deng, Zhen, Habibi-koolaee, Mahdi, Vijayan, Murali, Leung, Thomas, Wong, Lawrence, Mok, Vincent, Choy, Richard, Jern, Christina, Lebedeva, Elena, Farrall, Martin, Jiayuan, Xu, Loo, Keat Wei, Rinkel, Gabriel, Magnus, Rudolf, Goncalves, Anderson, Franca, Paulo, Cendes, Iscia, Carrera, Caty, Fernandez-Cadenas, Israel, Kim, Helen, Rolfs, Arndt, Owolabi, Mayowa, Bakker, Mark, Ruigrok, Ynte, Hauer, Allard, Pulit, Sara L., Algra, Ale, van der Laan, Sander W., Macleod, Mary, Howard, George, Tiwari, Hemant, Irvin, Ryan, Albright, Karen C., Perry, Rodney, Kidwell, Chelsea, Pavlovic, Aleksandra, Sargurupremraj, Murali, Schilling, Sabrina, Pezzini, Alessandro, Abd-Allah, Foad, DeCarli, Charles, Liebeskind, David, Traylor, Matthew, Tan, Rhea, Danesh, John, Larsson, Susanna C., Rutten, Loes, Donatti, Amanda, Avelar, Wagner, Broderick, Joseph, Woo, Daniel, Kissela, Brett, Ibenez, Laura Garcia, Salman, Rustam, Sudlow, Cathie, McDonough, Caitrin Wheeler, Silliman, Scott, Magvanjav, Oyunbileg, van Agtmael, Tom, Walters, Matthew, Lorentzen, Erik, Stanne, Tara, Olsson, Martina, Nakagawa, Kazuma, Akinyemi, Rufus, Cotlatciuc, Ioana, O'Connell, Jeff, Sparks, Mary, Sorkin, John, Dave, Tushar, Naylor, Jill, Brown, Devin, Du, Rose, Kulik, Tobias B., Attia, John, Faber, James E, Rothwell, Peter, Márquez, Elsa Valdés, Mancuso, Michelangelo, Souza, Doralina Brum, de Silva, Ranil, Vibo, Riina, Korv, Janika, Maguire, Jane, Fornage, Myriam, Illoh, Kachikwu, Milewicz, Dianna, Majersik, Jennifer, DeHavenon, Adam, Kalani, Yashar, Alexander, Matthew, Cushman, Mary, Sale, Michele, Owens, Debra, Keene, Keith, Rich, Stephe, Psaty, Bruce, Longstreth, Will, Atadzhanov, Masharip, Wolfe, Stacey Quintero, Langefeld, Carl, Bushnell, Cheryl, Cruchaga, Carlos, Konrad, Jan, Liu, Junfeng, Sheth, Kevin, Falcone, Guido, Donahue J, Kathleen, Jones, Gregory T., Bown, Matthew J., Ko, Nerissa U., Coleman, Jonathan R.I., Breen, Gerome, Zaroff, Jonathan G., Klijn, Catharina J.M., Sargurupremraj, Muralidharan, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel J.E., Worrall, Bradford B., Slowik, Agnieszka, Gaál-Paavola, Emilia I., Niemelä, Mika, Jääskeläinen, Juha E., von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P., Werring, David J., Redon, Richard, Veldink, Jan H., Ruigrok, Ynte M., Stroke, HUNT All-In, Group, China Kadoorie Biobank Collaborative, Consortium, BioBank Japan Project, Group, ICAN Study, Group, CADISP, investigators, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, (ISGC), International Stroke Genetics Consortium, Morel, Sandrine, and Bijlenga, Philippe Alexandre Pierre
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genetics [Blood Pressure] ,Medizin ,Genome-wide association study ,Blood Pressure ,Disease ,ddc:616.07 ,Bioinformatics ,616: Innere Medizin und Krankheiten ,0302 clinical medicine ,Risk Factors ,physiopathology [Hypertension] ,genetics [Genetic Predisposition to Disease] ,Genetic risk factor ,Stroke ,0303 health sciences ,Smoking ,genetics [Smoking] ,genetics [Intracranial Aneurysm] ,Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] ,Cerebrovascular disorder ,3. Good health ,genetics [European Continental Ancestry Group] ,Hypertension ,genetics [Polymorphism, Single Nucleotide] ,Subarachnoid hemorrhage ,pathology [Intracranial Aneurysm] ,genetics [White People] ,Biology ,Genetic correlation ,pathology [Endothelial Cells] ,Polymorphism, Single Nucleotide ,Article ,White People ,03 medical and health sciences ,Aneurysm ,Asian People ,ddc:570 ,Genetics ,medicine ,Humans ,Genetic Predisposition to Disease ,cardiovascular diseases ,030304 developmental biology ,genetics [Subarachnoid Hemorrhage] ,genetics [Asian Continental Ancestry Group] ,572: Biochemie ,genetics [Asian People] ,pathology [Subarachnoid Hemorrhage] ,adverse effects [Smoking] ,Endothelial Cells ,Subarachnoid Hemorrhage ,medicine.disease ,Intracranial aneurysm ,Genetic architecture ,ddc:616.8 ,Case-Control Studies ,genetics [Hypertension] ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
An author correction to this article published in December 2020 is available at https://doi.org/10.1038/s41588-020-00760-4. Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.
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- 2021
30. Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
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Instituto de Salud Carlos III, Fundació La Marató de TV3, European Commission, Cadasil, Agència de Gestió d'Ajuts Universitaris i de Recerca, Muiño, Elena, Maisterra, Olga, Jiménez-Balado, Joan, Cullell, Nàtalia, Carrera, Caty, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, Lledós, Miquel, González-Sánchez, Jonathan, Olmos-Alpiste, Ferrán, Espejo, Eva, March, Álvaro, Pujol, Ramón, Rodríguez-Campello, Ana, Romeral, Gemma, Krupinski, Jurek, Marti-Fabregas, Joan, Montaner, Joan, Roquer, Jaume, Fernández-Cadenas, Israel, Instituto de Salud Carlos III, Fundació La Marató de TV3, European Commission, Cadasil, Agència de Gestió d'Ajuts Universitaris i de Recerca, Muiño, Elena, Maisterra, Olga, Jiménez-Balado, Joan, Cullell, Nàtalia, Carrera, Caty, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, Lledós, Miquel, González-Sánchez, Jonathan, Olmos-Alpiste, Ferrán, Espejo, Eva, March, Álvaro, Pujol, Ramón, Rodríguez-Campello, Ana, Romeral, Gemma, Krupinski, Jurek, Marti-Fabregas, Joan, Montaner, Joan, Roquer, Jaume, and Fernández-Cadenas, Israel
- Abstract
CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, being executive function characteristically impaired. The molecular pathways altered by this receptor aggregation need to be studied further. A genome-wide transcriptome study (four cases paired with three healthy siblings) was carried out, in addition to a qRT-PCR for validation purposes (ten new cases and eight new controls). To study the expression profile by cell type of the significant mRNAs found, we performed an in situ hybridization (ISH) (nine cases and eight controls) and a research in the Single-nuclei Brain RNA-seq expression browser (SNBREB). Pathway analysis enrichment was carried out with Gene Ontology and Reactome. Neuropsychological tests were performed in five of the qRT-PCR cases. The two most significant differentially expressed mRNAs (BANP, p-value = 7.23 × 10–4 and PDCD6IP, p-value = 8.36 × 10–4) were selected for the validation study by qRT-PCR. Additionally, we selected two more mRNAs (CAMK2G, p-value = 4.52 × 10–3 and E2F4, p-value = 4.77 × 10–3) due to their association with ischemic neuronal death. E2F4 showed differential expression in the genome-wide transcriptome study and in the qRT-PCR (p = 1.23 × 10–3), and it was upregulated in CADASIL cases. Furthermore, higher E2F4 expression was associated with worse executive function (p = 2.04 × 10–2) and attention and information processing speed (IPS) (p = 8.73 × 10–2). In situ hibridization showed E2F4 expression in endothelial and vascular smooth vessel cells. In silico studies indicated that E2F4 is also expressed in brain endothelial cells. Among the most significant pathways analyzed, there was an enrichment of vascular development, cell adhesion and vesicular machinery terms and autophagy process. E2F4 is more highly expre
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- 2021
31. Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma
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Carrera, Caty, primary, Cárcel-Márquez, Jara, additional, Cullell, Natalia, additional, Torres-Águila, Nuria, additional, Muiño, Elena, additional, Castillo, José, additional, Sobrino, Tomás, additional, Campos, Francisco, additional, Rodríguez-Castro, Emilio, additional, Llucià-Carol, Laia, additional, Millán, Mònica, additional, Muñoz-Narbona, Lucía, additional, López-Cancio, Elena, additional, Bustamante, Alejandro, additional, Ribó, Marc, additional, Álvarez-Sabín, José, additional, Jiménez-Conde, Jordi, additional, Roquer, Jaume, additional, Giralt-Steinhauer, Eva, additional, Soriano-Tárraga, Carolina, additional, Mola-Caminal, Marina, additional, Vives-Bauza, Cristófol, additional, Navarro, Rosa Díaz, additional, Tur, Silvia, additional, Obach, Victor, additional, Arenillas, Juan Francisco, additional, Segura, Tomás, additional, Serrano-Heras, Gemma, additional, Martí-Fàbregas, Joan, additional, Delgado-Mederos, Raquel, additional, Freijo-Guerrero, M Mar, additional, Moniche, Francisco, additional, Cabezas, Juan Antonio, additional, Castellanos, Mar, additional, Gallego-Fabrega, Cristina, additional, González-Sanchez, Jonathan, additional, Krupinsky, Jurek, additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Lemmens, Robin, additional, Slowik, Agnieszka, additional, Pera, Johanna, additional, Kittner, Steven, additional, Cole, John, additional, Heitsch, Laura, additional, Ibañez, Laura, additional, Cruchaga, Carlos, additional, Lee, Jin-Moo, additional, Montaner, Joan, additional, and Fernández-Cadenas, Israel, additional
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- 2021
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32. A parsimonious score with a free web tool for predicting disability after an ischemic stroke: the Parsifal Score
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Instituto de Salud Carlos III, Fundació La Marató de TV3, European Commission, Agència de Gestió d'Ajuts Universitaris i de Recerca, Muiño, Elena, Bustamante, Alejandro, Rodríguez-Campello, Ana, Gallego-Fabrega, Cristina, Ois, Ángel, Carrera, Caty, Cullell, Nàtalia, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, Rubiera, M., Molina, Carlos A., Cuadrado-Godia, Elisa, Giralt-Steinhauer, Eva, Jiménez-Conde, Jordi, Montaner, Joan, Fernández-Cadenas, Israel, Roquer, Jaume, Instituto de Salud Carlos III, Fundació La Marató de TV3, European Commission, Agència de Gestió d'Ajuts Universitaris i de Recerca, Muiño, Elena, Bustamante, Alejandro, Rodríguez-Campello, Ana, Gallego-Fabrega, Cristina, Ois, Ángel, Carrera, Caty, Cullell, Nàtalia, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, Rubiera, M., Molina, Carlos A., Cuadrado-Godia, Elisa, Giralt-Steinhauer, Eva, Jiménez-Conde, Jordi, Montaner, Joan, Fernández-Cadenas, Israel, and Roquer, Jaume
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[Background] Most of the models to predict prognosis after an ischemic stroke include complex mathematical equations or too many variables, making them difficult to use in the daily clinic. We want to predict disability 3 months after an ischemic stroke in an independent patient not receiving recanalization treatment within the first 24 h, using a minimum set of variables and an easy tool to facilitate its implementation. As a secondary aim, we calculated the capacity of the score to predict an excellent/devastating outcome and mortality., [Methods] Eight hundred and forty-four patients were evaluated. A multivariable ordinal logistic regression was used to obtain the score. The Modified Rankin Scale (mRS) was used to estimate disability at the third month. The results were replicated in another independent cohort (378 patients). The “polr” function of R was used to perform the regression, stratifying the sample into seven groups with different cutoffs (from mRS 0 to 6)., [Results] The Parsifal score was generated with: age, previous mRS, initial NIHSS, glycemia on admission, and dyslipidemia. This score predicts disability with an accuracy of 80–76% (discovery–replication cohorts). It has an AUC of 0.86 in the discovery and replication cohort. The specificity was 90–80% (discovery–replication cohorts); while, the sensitivity was 64–74% (discovery–replication cohorts). The prediction of an excellent or devastating outcome, as well as mortality, obtained good discrimination with AUC > 0.80., [Conclusions] The Parsifal Score is a model that predicts disability at the third month, with only five variables, with good discrimination and calibration, and being replicated in an independent cohort.
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- 2020
33. Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain
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International Stroke Genetics Consortium, Consorcio español de genética del ictus, Redes Temáticas de Investigación Cooperativa en Salud (España), Cullell, Nàtalia, Carrera, Caty, Muiño, Elena, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, González-Sánchez, Jonathan, Gallego-Fabrega, Cristina, Molina, Jessica, Besora, Sarah, Sotoca, Javier, Buongiorno, Maria Teresa, Jiménez-Conde, Jordi, Giralt-Steinhauer, Eva, Torres-Chacón, Reyes de, Montaner, Joan, Mancha, Fernando, Cabezas, Juan A., Marti-Fabregas, Joan, Prats-Sánchez, Luis, Camps-Renom, Pol, Purroy, Francisco, Cambray, Serafí, Freijo, Mar, Vives-Bauzá, Cristòfol, Tur, Sílvia, Font, Maria A., López-Cancio, Elena, Hernández-Pérez, María, Obach, Víctor, Calleja, Ana, Arenillas, Juan F., Rodríguez-Yáñez, Manuel, Castillo, José, Sobrino, Tomás, Fernández-Cadenas, Israel, Krupinski, Jerzy, International Stroke Genetics Consortium, Consorcio español de genética del ictus, Redes Temáticas de Investigación Cooperativa en Salud (España), Cullell, Nàtalia, Carrera, Caty, Muiño, Elena, Torres-Águila, Nuria P., Cárcel-Márquez, Jara, González-Sánchez, Jonathan, Gallego-Fabrega, Cristina, Molina, Jessica, Besora, Sarah, Sotoca, Javier, Buongiorno, Maria Teresa, Jiménez-Conde, Jordi, Giralt-Steinhauer, Eva, Torres-Chacón, Reyes de, Montaner, Joan, Mancha, Fernando, Cabezas, Juan A., Marti-Fabregas, Joan, Prats-Sánchez, Luis, Camps-Renom, Pol, Purroy, Francisco, Cambray, Serafí, Freijo, Mar, Vives-Bauzá, Cristòfol, Tur, Sílvia, Font, Maria A., López-Cancio, Elena, Hernández-Pérez, María, Obach, Víctor, Calleja, Ana, Arenillas, Juan F., Rodríguez-Yáñez, Manuel, Castillo, José, Sobrino, Tomás, Fernández-Cadenas, Israel, and Krupinski, Jerzy
- Abstract
Acenocoumarol is an oral anticoagulant with significant interindividual dose variations. Variants in CYP2C9 and VKORC1 have been associated with acenocoumarol maintenance dose. We analysed whether any of the 49 polymorphisms in CYP2C9 and VKORC1 previously associated with acenocoumarol maintenance dose in a Genome-Wide Association study (GWAs) in Dutch population are associated with stroke recurrence, intracranial haemorrhage (ICH) and acenocoumarol maintenance dose in a Spanish population. We performed a GWAs using Human Core Exome-chip (Illumina) in 78 patients stroke patients treated with acenocoumarol for secondary prevention enrolled as part of the prospective investigator-initiated study (IIS) SEDMAN Study. Patients were followed-up a median of 12.8 months. Three and eight patients had recurrent stroke and ICH events, respectively. We found 14 of the 49 published variants associated with acenocoumarol maintenance dose (p < 0.05). Six polymorphisms were associated with stroke recurrence and four variants with ICH (p < 0.05). In conclusion, variants in VKORC1 and CYP2C9 are associated with acenocoumarol maintenance dose, stroke recurrence and ICH in a Spanish cohort. These results highlight the relevance of studying pharmacogenetics associated with efficacy and safety of anticoagulant drugs and justify studies with larger sample size and different ethnic populations.
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- 2020
34. Role of the MMP9 Gene in Hemorrhagic Transformations After Tissue-Type Plasminogen Activator Treatment in Stroke Patients
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Fernández-Cadenas, Israel, del Río-Espínola, Alberto, Carrera, Caty, Domingues-Montanari, Sophie, Mendióroz, Maite, Delgado, Pilar, Rosell, Anna, Ribó, Marc, Giralt, Dolors, Quintana, Manolo, Castellanos, Mar, Obach, Victor, Martínez, Sergi, Freijo, Mari Mar, Jiménez-Conde, Jordi, Roquer, Jaume, Martí-Fábregas, Joan, Molina, Carlos A., Álvarez-Sabín, José, and Montaner, Joan
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- 2012
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35. Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke
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Ibanez, Laura, primary, Heitsch, Laura, additional, Carrera, Caty, additional, Farias, Fabiana H.G., additional, Dhar, Rajat, additional, Budde, John, additional, Bergmann, Kristy, additional, Bradley, Joseph, additional, Harari, Oscar, additional, Phuah, Chia-Ling, additional, Lemmens, Robin, additional, Oliveira Souza, Alessandro A. Viana, additional, Moniche, Francisco, additional, Cabezas-Juan, Antonio, additional, Arenillas, Juan Francisco, additional, Krupinksi, Jerzy, additional, Cullell, Natalia, additional, Torres-Aguila, Nuria, additional, Muiño, Elena, additional, Cárcel-Márquez, Jara, additional, Marti-Fabregas, Joan, additional, Delgado-Mederos, Raquel, additional, Marin-Bueno, Rebeca, additional, Hornick, Alejandro, additional, Vives-Bauza, Cristofol, additional, Navarro, Rosa Diaz, additional, Tur, Silvia, additional, Jimenez, Carmen, additional, Obach, Victor, additional, Segura, Tomas, additional, Serrano-Heras, Gemma, additional, Chung, Jong-Won, additional, Roquer, Jaume, additional, Soriano-Tarraga, Carol, additional, Giralt-Steinhauer, Eva, additional, Mola-Caminal, Marina, additional, Pera, Joanna, additional, Lapicka-Bodzioch, Katarzyna, additional, Derbisz, Justyna, additional, Davalos, Antoni, additional, Lopez-Cancio, Elena, additional, Muñoz, Lucia, additional, Tatlisumak, Turgut, additional, Molina, Carlos, additional, Ribo, Marc, additional, Bustamante, Alejandro, additional, Sobrino, Tomas, additional, Castillo-Sanchez, Jose, additional, Campos, Francisco, additional, Rodriguez-Castro, Emilio, additional, Arias-Rivas, Susana, additional, Rodríguez-Yáñez, Manuel, additional, Herbosa, Christina, additional, Ford, Andria L., additional, Arauz, Antonio, additional, Lopes-Cendes, Iscia, additional, Lowenkopf, Theodore, additional, Barboza, Miguel A., additional, Amini, Hajar, additional, Stamova, Boryana, additional, Ander, Bradley P., additional, Sharp, Frank R, additional, Kim, Gyeong Moon, additional, Bang, Oh Young, additional, Jimenez-Conde, Jordi, additional, Slowik, Agnieszka, additional, Stribian, Daniel, additional, Tsai, Ellen A., additional, Burkly, Linda C., additional, Montaner, Joan, additional, Fernandez-Cadenas, Israel, additional, Lee, Jin-Moo, additional, and Cruchaga, Carlos, additional
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- 2020
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36. Genome-wide Transcriptome Study in Skin Biopsies Reveals an Association of E2F4 With Cadasil and Cognitive Impairment
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Muiño, Elena, primary, Maisterra, Olga, additional, Jiménez-Balado, Joan, additional, Cullell, Natalia, additional, Carrera, Caty, additional, Torres-Aguila, Nuria P, additional, Cárcel-Márquez, Jara, additional, Gallego-Fábrega, Cristina, additional, Lledós, Miquel, additional, González-Sánchez, Jonathan, additional, Olmos-Alpiste, Ferran, additional, Espejo, Eva, additional, March, Álvaro, additional, Pujol, Ramón, additional, Rodríguez-Campello, Ana, additional, Romeral, Gemma, additional, Krupinski, Jurek, additional, Martí-Fábregas, Joan, additional, Montaner, Joan, additional, Roquer, Jaume, additional, and Fernández-Cadenas, Israel, additional
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- 2020
- Full Text
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37. DNA methylation of MMPs and TIMPs in atherothrombosis process in carotid plaques and blood tissues
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Gallego-Fabrega, Cristina, primary, Cullell, Natalia, additional, Soriano-Tárraga, Carolina, additional, Carrera, Caty, additional, Torres-Aguila, Nuria P., additional, Muiño, Elena, additional, Cárcel-Márquez, Jara, additional, Moura, Manuel Castro de, additional, Fernández-Sanlés, Alba, additional, Esteller, Manel, additional, Elosua, Roberto, additional, Jiménez-Conde, Jordi, additional, Roquer, Jaume, additional, Montaner, Joan, additional, Krupinski, Jerzy, additional, and Fernandez-Cadenas, Israel, additional
- Published
- 2020
- Full Text
- View/download PDF
38. Genome-Wide Association Study of VKORC1 and CYP2C9 on acenocoumarol dose, stroke recurrence and intracranial haemorrhage in Spain
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Cullell, Natalia, primary, Carrera, Caty, additional, Muiño, Elena, additional, Torres-Aguila, Nuria-Paz, additional, Cárcel-Márquez, Jara, additional, González-Sánchez, Jonathan, additional, Gallego-Fabrega, Cristina, additional, Molina, Jessica, additional, Besora, Sarah, additional, Sotoca, Javier, additional, Buongiorno, Maria-Teresa, additional, Jiménez-Conde, Jordi, additional, Giralt-Steinhauer, Eva, additional, de Torres-Chacón, Reyes, additional, Montaner, Joan, additional, Mancha, Fernando, additional, Cabezas, Juan A, additional, Martí-Fàbregas, Joan, additional, Prats-Sánchez, Luis, additional, Camps-Renom, Pol, additional, Purroy, Francisco, additional, Cambray, Serafi, additional, Freijo, María del Mar, additional, Vives-Bauzá, Cristòfol, additional, Tur, Silvia, additional, Font, Maria-Àngels, additional, López-Cancio, Elena, additional, Hernandez-Perez, Maria, additional, Obach, Victor, additional, Calleja, Ana, additional, Arenillas, Juan, additional, Rodríguez-Yáñez, Manuel, additional, Castillo, José, additional, Sobrino, Tomas, additional, Fernández-Cádenas, Israel, additional, and Krupinski, Jerzy, additional
- Published
- 2020
- Full Text
- View/download PDF
39. A Genome-Wide Meta-Analysis
- Author
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Mola-Caminal, Marina, Carrera, Caty, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Díaz-Navarro, Rosa M., Tur, Sílvia, Jiménez, Carmen, Medina-Dols, Aina, Cullell, Nàtalia, Torres-Águila, Nuria P., Muiño, Elena, Rodríguez-Campello, Ana, Ois, Ángel, Cuadrado-Godia, Elisa, Vivanco-Hidalgo, Rosa M., Hernández-Guillamón, Mar, Solé, Montse, Delgado, Pilar, Bustamante, Alejandro, García-Berrocoso, Teresa, Mendióroz, Maite, Castellanos, Mar, Serena, Joaquín, Marti-Fabregas, Joan, Segura, Tomás, Serrano-Heras, Gemma, Obach, Víctor, Ribó, Marc, Molina, Carlos A., Álvarez-Sabín, José, Palomeras, Ernest, Freijo, Mar, Font, Maria A., Rosand, Jonathan, Rost, Natalia S., Gallego-Fabrega, Cristina, Lee, Jin-Moo, Heitsch, Laura, Ibáñez, Laura, Cruchaga, Carlos, Phuah, Chia-Ling, Lemmens, Robin, Thijs, Vincent, Lindgren, Arne, Maguire, Jane, Rannikmae, Kistiina, Sudlow, Catherine L., Jern, Christina, Stanne, Tara M., Lorentzen, Erik, Muñoz-Narbona, Lucía, Dávalos, Antonio, López-Cancio, Elena, Worrall, Bradford B., Woo, Daniel, Kittner, Steven J., Mitchell, Braxton D., Montaner, Joan, Roquer, Jaume, Krupinski, Jurek, Estivill, Xavier, Rabionet, Raquel, Vives-Bauzá, Cristòfol, Fernández-Cadenas, Israel, Jiménez-Conde, Jordi, Fundació La Marató de TV3, Instituto de Salud Carlos III, National Institutes of Health (US), and National Institute of Neurological Disorders and Stroke (US)
- Subjects
Allele ,Genome-wide association study ,Ischemic stroke ,Genetic loci ,cardiovascular diseases ,Genetic variant - Abstract
[Rationale] Ischemic stroke is among the leading causes of adult disability. Part of the variability in functional outcome after stroke has been attributed to genetic factors but no locus has been consistently associated with stroke outcome., [Objective] Our aim was to identify genetic loci influencing the recovery process using accurate phenotyping to produce the largest GWAS (genome-wide association study) in ischemic stroke recovery to date., [Methods and Results] A 12-cohort, 2-phase (discovery-replication and joint) meta-analysis of GWAS included anterior-territory and previously independent ischemic stroke cases. Functional outcome was recorded using 3-month modified Rankin Scale. Analyses were adjusted for confounders such as discharge National Institutes of Health Stroke Scale. A gene-based burden test was performed. The discovery phase (n=1225) was followed by open (n=2482) and stringent joint-analyses (n=1791). Those cohorts with modified Rankin Scale recorded at time points other than 3-month or incomplete data on previous functional status were excluded in the stringent analyses. Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 (G allele, β=0.40, P=1.70×10−9)., [Conclusions] Our results identify a set of common variants in PATJ gene associated with 3-month functional outcome at genome-wide significance level. Future studies should examine the role of PATJ in stroke recovery and consider stringent phenotyping to enrich the information captured to unveil additional stroke outcome loci., Genetic contribution to functional outcome and disability after stroke (GODS) project, Fundació Marató-TV3 Grant 2011 (76/C/2011), Recercaixa’13; Generación Project, Instituto de Salud Carlos III; GENISIS (Genetics of Early Neurological InStability After Ischemic Stroke) project, National Institutes of Health (NIH); National Institute of Neurological Disorders and Stroke Stroke Genetics Network (SiGN) Project, NIH.
- Published
- 2019
40. Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes (Nature Genetics, (2018), 50, 4, (524-537), 10.1038/s41588-018-0058-3)
- Author
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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 H. H., 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., Chasman, Daniel I., Chen, Wei-Min, Cole, John W., Correa, Adolfo, Cotlarciuc, Ioana, Cruchaga, Carlos, Danesh, John, de Bakker, Paul I. W., DeStefano, Anita L., den Hoed, Marcel, Duan, Qing, Engelter, Stefan T., Falcone, Guido J., Gottesman, Rebecca F., Grewal, Raji P., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeffrey, Harris, Tamara B., Hassan, Ahamad, Havulinna, Aki S., and van der Lee, Sven J.
- Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
- Published
- 2019
41. A Genome-Wide Meta-Analysis
- Author
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Mola-Caminal, Marina, Carrera, Caty, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Díaz-Navarro, Rosa M., Tur, Sílvia, Jiménez, Carmen, Medina-Dols, Aina, Cullell, Nàtalia, Torres-Águila, Nuria P., Muiño, Elena, Rodríguez-Campello, Ana, Ois, Ángel, Cuadrado-Godia, Elisa, Vivanco-Hidalgo, Rosa M., Hernández-Guillamón, Mar, Solé, Montse, Delgado, Pilar, Bustamante, Alejandro, García-Berrocoso, Teresa, Mendióroz, Maite, Castellanos, Mar, Serena, Joaquín, Marti-Fabregas, Joan, Segura, Tomás, Serrano-Heras, Gemma, Obach, Víctor, Ribó, Marc, Molina, Carlos A., Álvarez-Sabín, José, Palomeras, Ernest, Freijo, Mar, Font, Maria A., Rosand, Jonathan, Rost, Natalia S., Gallego-Fabrega, Cristina, Lee, Jin-Moo, Heitsch, Laura, Ibáñez, Laura, Cruchaga, Carlos, Phuah, Chia-Ling, Lemmens, Robin, Thijs, Vincent, Lindgren, Arne, Maguire, Jane, Rannikmae, Kistiina, Sudlow, Catherine L., Jern, Christina, Stanne, Tara M., Lorentzen, Erik, Muñoz-Narbona, Lucía, Dávalos, Antonio, López-Cancio, Elena, Worrall, Bradford B., Woo, Daniel, Kittner, Steven J., Mitchell, Braxton D., Montaner, Joan, Roquer, Jaume, Krupinski, Jurek, Estivill, Xavier, Rabionet, Raquel, Vives-Bauzá, Cristòfol, Fernández-Cadenas, Israel, Jiménez-Conde, Jordi, Fundació La Marató de TV3, Instituto de Salud Carlos III, National Institutes of Health (US), and National Institute of Neurological Disorders and Stroke (US)
- Subjects
genetic variant ,genome-wide association study ,Tight Junction Proteins ,allele ,Stroke Rehabilitation ,genetic loci ,Recovery of Function ,Polymorphism, Single Nucleotide ,Brain Ischemia ,Stroke ,Disability Evaluation ,Phenotype ,Treatment Outcome ,Gene Frequency ,Risk Factors ,ischemic stroke ,Humans ,Genetic Predisposition to Disease ,Genome-Wide Association Study - Abstract
[Rationale] Ischemic stroke is among the leading causes of adult disability. Part of the variability in functional outcome after stroke has been attributed to genetic factors but no locus has been consistently associated with stroke outcome. [Objective] Our aim was to identify genetic loci influencing the recovery process using accurate phenotyping to produce the largest GWAS (genome-wide association study) in ischemic stroke recovery to date. [Methods and Results] A 12-cohort, 2-phase (discovery-replication and joint) meta-analysis of GWAS included anterior-territory and previously independent ischemic stroke cases. Functional outcome was recorded using 3-month modified Rankin Scale. Analyses were adjusted for confounders such as discharge National Institutes of Health Stroke Scale. A gene-based burden test was performed. The discovery phase (n=1225) was followed by open (n=2482) and stringent joint-analyses (n=1791). Those cohorts with modified Rankin Scale recorded at time points other than 3-month or incomplete data on previous functional status were excluded in the stringent analyses. Novel variants in PATJ (Pals1-associated tight junction) gene were associated with worse functional outcome at 3-month after stroke. The top variant was rs76221407 (G allele, β=0.40, P=1.70×10−9). [Conclusions] Our results identify a set of common variants in PATJ gene associated with 3-month functional outcome at genome-wide significance level. Future studies should examine the role of PATJ in stroke recovery and consider stringent phenotyping to enrich the information captured to unveil additional stroke outcome loci. Genetic contribution to functional outcome and disability after stroke (GODS) project, Fundació Marató-TV3 Grant 2011 (76/C/2011), Recercaixa’13; Generación Project, Instituto de Salud Carlos III; GENISIS (Genetics of Early Neurological InStability After Ischemic Stroke) project, National Institutes of Health (NIH); National Institute of Neurological Disorders and Stroke Stroke Genetics Network (SiGN) Project, NIH.
- Published
- 2018
42. Clinical Variables and Genetic Risk Factors Associated with the Acute Outcome of Ischemic Stroke: A Systematic Review
- Author
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Instituto de Salud Carlos III, Torres-Águila, Nuria P., Carrera, Caty, Muiño, Elena, Cullell, Nàtalia, Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, González-Sánchez, Jonathan, Bustamante, Alejandro, Delgado, Pilar, Ibáñez, Laura, Heitsch, Laura, Krupinski, Jerzy, Montaner, Joan, Marti-Fabregas, Joan, Cruchaga, Carlos, Lee, Jin-Moo, Fernández-Cadenas, Israel, Instituto de Salud Carlos III, Torres-Águila, Nuria P., Carrera, Caty, Muiño, Elena, Cullell, Nàtalia, Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, González-Sánchez, Jonathan, Bustamante, Alejandro, Delgado, Pilar, Ibáñez, Laura, Heitsch, Laura, Krupinski, Jerzy, Montaner, Joan, Marti-Fabregas, Joan, Cruchaga, Carlos, Lee, Jin-Moo, and Fernández-Cadenas, Israel
- Abstract
Stroke is a complex disease and one of the main causes of morbidity and mortality among the adult population. A huge variety of factors is known to influence patient outcome, including demographic variables, comorbidities or genetics. In this review, we expound what is known about the influence of clinical variables and related genetic risk factors on ischemic stroke outcome, focusing on acute and subacute outcome (within 24 to 48 hours after stroke and until day 10, respectively), as they are the first indicators of stroke damage. We searched the PubMed data base for articles that investigated the interaction between clinical variables or genetic factors and acute or subacute stroke outcome. A total of 61 studies were finally included in this review. Regarding the data collected, the variables consistently associated with acute stroke outcome are: glucose levels, blood pressure, presence of atrial fibrillation, prior statin treatment, stroke severity, type of acute treatment performed, severe neurological complications, leukocyte levels, and genetic risk factors. Further research and international efforts are required in this field, which should include genome-wide association studies.
- Published
- 2019
43. Pharmacogenetic studies with oral anticoagulants. Genome-wide association studies in vitamin K antagonist and direct oral anticoagulants
- Author
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Cullell, Natalia, Carrera, Caty, Muiño, Elena, Torres, Nuria, Krupinski, Jerzy, Fernandez Cadenas, Israel, and Universitat Autònoma de Barcelona
- Subjects
Review ,030204 cardiovascular system & hematology ,Bioinformatics ,030226 pharmacology & pharmacy ,Dabigatran ,Phenprocoumon ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Edoxaban ,medicine ,Genetics ,genetics ,pharmacogenetics ,Rivaroxaban ,Anticoagulant drug ,business.industry ,VKA ,DOACs ,Oncology ,chemistry ,Pharmacogenetics ,Pharmacogenomics ,GWAs ,VKORC1 ,business ,medicine.drug - Abstract
Altres ajuts: This work was supported by Boeringher Ingelheim funding (SEDMAN Project). Oral anticoagulants (OAs) are the recommended drugs to prevent cardiovascular events and recurrence in patients with atrial fibrillation (AF) and cardioembolic stroke. We conducted a literature search to review the current state of OAs pharmacogenomics, focusing on Genome Wide Association Studies (GWAs) in patients treated with vitamin K antagonists (VKAs) and direct oral anticoagulants (DOACs). VKAs: Warfarin, acenocoumarol, fluindione and phenprocoumon have long been used, but their interindividual variability and narrow therapeutic/safety ratio makes their dosage difficult. GWAs have been useful in finding genetic variants associated with VKAs response. The main genes involved in VKAs pharmacogenetics are: VKORC1, CYP2C19 and CYP4F2. Variants in these genes have been included in pharmacogenetic algorithms to predict the VKAs dose individually in each patient depending on their genotype and clinical variables. DOACs: Dabigatran, apixaban, rivaroxaban and edoxaban have been approved for patients with AF. They have stable pharmacokinetics and do not require routine blood checks, thus avoiding most of the drawbacks of VKAs. Except for a GWAs performed in patients treated with dabigatran, there is no Genome Wide pharmacogenomics data for DOACs. Pharmacogenomics could be useful to predict the better clinical response and avoid adverse events in patients treated with anticoagulants, identifying the most appropriate anticoagulant drug for each patient. Current pharmacogenomics data show that the polymorphisms affecting VKAs or DOACs are different, concluding that personalized medicine based on pharmacogenomics could be possible. However, more studies are required to implement personalized medicine in clinical practice with OA and based on pharmacogenetics of DOACs.
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- 2018
44. DNA Methylation in Stroke. Update of Latest Advances
- Author
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Krupinski, Jerzy, Carrera, Caty, Muiño, Elena, Torres, Nuria, Al-Baradie, Raid, Cullell, Natalia, Fernandez-Cadenas, Israel, and Universitat Autònoma de Barcelona
- Subjects
0301 basic medicine ,lcsh:Biotechnology ,Biophysics ,Genome-wide association study ,Bioinformatics ,Biochemistry ,DNA sequencing ,03 medical and health sciences ,0302 clinical medicine ,Structural Biology ,lcsh:TP248.13-248.65 ,medicine ,Genetics ,Epigenetics ,Stroke ,biology ,Cancer ,medicine.disease ,Computer Science Applications ,030104 developmental biology ,Histone ,Acetylation ,DNA methylation ,biology.protein ,GWAs ,Short Survey ,030217 neurology & neurosurgery ,Biotechnology ,EWAs - Abstract
Epigenetic modifications are hereditable and modifiable factors that do not alter the DNA sequence. These epigenetic factors include DNA methylation, acetylation of histones and non-coding RNAs. Epigenetic factors have mainly been associated with cancer but also with other diseases and conditions such as diabetes or obesity. In addition, epigenetic modifications could play an important role in cardiovascular diseases, including stroke. We review the latest advances in stroke epigenetics, focusing on DNA methylation studies and the future perspectives in this field. Keywords: Stroke, Epigenetics, Genetics, EWAs, GWAs
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- 2017
45. A Genome Wide Association Study In Patients With Intracranial Atherosclerosis
- Author
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Cárcel, Jara, Cullell, Natalia, and Carrera, Caty
- Abstract
Background and Aims: Large-artery intracranial atherosclerosis (ICAs) is a major cause of stroke worldwide. Genome-Wide Association studies (GWAs) have identified 6 loci associated with large-artery stroke. However, no GWAs has been performed to identify genetic variants associated with ICAs. Our aim is to find genetic risk factors associated with ICAs using a GWAs approach. Methods: We analyzed 107 patients with ICAs (94.6%symptomatic) and 316 population-based controls and replicated the results in two cohorts of 444 and 1,270 stroke patients attributed to intracranial and extracranial atherosclerosis, respectively, and 25,643 controls from the SiGN study. Genetic analysis was performed using HumanCoreExome(Illumina). For quality controls (QC), imputation and association analysis we used PLINK, R, IMPUTE2 and SNPTEST following previous recommendations. We included sex, age and principal components as covariates. For significant polymorphisms, we used GTEx to find eQTLs and SOMASCAN to find associations with protein levels(1,305 proteins in 52 plasma subjects).Results: After QC, we analyzed 8,047,349 single-nucleotide polymorphisms (SNPs). One locus at 18q22 (with three independent SNPs) was associated (P
- Published
- 2017
46. Pharmacogenetic studies with oral anticoagulants. Genome-wide association studies in vitamin K antagonist and direct oral anticoagulants
- Author
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Cullell, Natalia, primary, Carrera, Caty, additional, Muiño, Elena, additional, Torres, Nuria, additional, Krupinski, Jerzy, additional, and Fernandez-Cadenas, Israel, additional
- Published
- 2018
- Full Text
- View/download PDF
47. DNA Methylation in Stroke. Update of Latest Advances
- Author
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Krupinski, Jerzy, primary, Carrera, Caty, additional, Muiño, Elena, additional, Torres, Nuria, additional, Al-Baradie, Raid, additional, Cullell, Natalia, additional, and Fernandez-Cadenas, Israel, additional
- Published
- 2018
- Full Text
- View/download PDF
48. GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence After Stroke
- Author
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Fernandez-Cadenas, Israel, Mendióroz, Maite, Giralt, Dolors, Nafría, Cristina, Garcia, Elena, Carrera, Caty, Gallego-Fabrega, Cristina, Domingues-Montanari, Sophie, Delgado Martínez, María Pilar, Ribo, Marc, Castellanos, Mar, Martínez, Sergi, Freijo, Mari Mar, Jiménez-Conde, Jordi, Rubiera, Marta, Alvarez Sabín, José, Molina, Carlos A., Font, Maria Angels, Grau Olivares, Marta, Palomeras, Ernest, Pérez de la Ossa, Natalia, Martinez Zabaleta, Maite, Masjuan, Jaime, Moniche, Francisco, Cánovas, David, Piñana, Carlos, Purroy, Francisco, Cocho, Dolores, Navas, Inma, Tejero, Carlos, Aymerich, Nuria, Cullell, Natalia, Muiño, Elena, Serena, Joaquín, Rubio, Francisco, Dávalos, Antoni, Roquer González, Jaume, Arenillas, Juan F., Martí Fábregas, Joan, Keene, Keith, Chen, Wei-Min, Worrall, Bradford, Sale, Michele, Arboix, Adrià, Krupinski, Jerzy, Montaner, Joan, GRECOSstudy group, and Universitat Autònoma de Barcelona
- Subjects
0301 basic medicine ,Male ,Risk ,Candidate gene ,recurrence ,Genotype ,Polymorphism, Single Nucleotide ,Article ,Brain Ischemia ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Polymorphism (computer science) ,Recurrence ,Genetics ,Medicine ,risk factors ,Humans ,Genetic variability ,Genotyping ,Stroke ,Aged ,Advanced and Specialized Nursing ,business.industry ,Proportional hazards model ,Stroke recurrence ,Hazard ratio ,medicine.disease ,Prognosis ,stroke ,030104 developmental biology ,Scotland ,Cardiovascular Diseases ,Ischemic Attack, Transient ,Spain ,Cohort ,North America ,Female ,Neurology (clinical) ,Cardiology and Cardiovascular Medicine ,business ,030217 neurology & neurosurgery - Abstract
Altres ajuts: This study was funded by Marato TV3, by the Spanish stroke research network (INVICTUS-PLUS) and by Generacion project (PI15/01978) Instituto de Salud Carlos III. Dr Fernández-Cadenas is supported by the Miguel Servet program (CP12/03298), Instituto de Salud Carlos III. Several groups participate in the International Stroke Genetics Consortium and the Spanish Stroke Genetics Consortium. The Hospital del Mar is supported by Spain's Ministry of Health (III FEDER, RD12/0042/0020). Study recruitment and collection of data sets for the VISP trial were supported by a grant (R01 NS34447; PI James Toole) from the National Institute of Neurological Disorders and Stroke (NINDS). Genome-wide association studies genotyping (U01 HG004438l; PI David Valle), funded by the National Human Genome Research Institute and the Genomics and Randomized Trials (GARNET) Network (U01HG00516-03; co-PI Michèle M. Sale and Bradford B. Worrall), and genetic data cleaning was provided by the GARNET Coordinating Center (U01HG005157; PI Bruce S. Weir) Background and Purpose-Vascular recurrence occurs in 11% of patients during the first year after ischemic stroke (IS) or transient ischemic attack (TIA). Clinical scores do not predict the whole vascular recurrence risk, therefore we aimed to find genetic variants associated with recurrence that might improve the clinical predictive mode is in IS. Methods-We analyzed 256 polymorphisms from 115 candidate genes in three patient cohorts comprising 4,482 IS or TIA patients. The discovery cohort was prospectively recruited and included 1,494 patients, 6.2% of them developed a new IS during the first year of follow-up. Replication analysis was performed in 2,988 patients using SNPlex or HumanOmni1-Quad technology. We generated a predictive model using Cox regression (GRECOS score), and generated risk groups using a classification tree method. Results-The analyses revealed that rs1800801 in the MGP gene (HR: 1.33, p= 9×10−03), a gene related to artery calcification, was associated with new IS during the first year of follow-up. This polymorphism was replicated in a Spanish cohort (n=1.305), however it was not significantly associated in a North American cohort (n=1.683). The GRECOS score predicted new IS (p=3.2×10−09) and could classify patients, from low risk of stroke recurrence (1.9%) to high risk (12.6%). Moreover, the addition of genetic risk factors to the GRECOS score improves the prediction compared to previous SPI-II score (p=0.03). Conclusions-The use of genetics could be useful to estimate vascular recurrence risk after IS. Genetic variability in the MGP gene was associated with vascular recurrence in the Spanish population.
- Published
- 2016
49. Automated quantification of cerebral edema following hemispheric infarction : Application of a machine-learning algorithm to evaluate CSF shifts on serial head CTs
- Author
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Chen, Yasheng, Dhar, Rajat, Heitsch, Laura, Ford, Andria, Fernandez Cadenas, Israel, Carrera, Caty, Montaner, Joan, Lin, Weili, Shen, Dinggang, An, Hongyu, Lee, Jin-Moo, and Universitat Autònoma de Barcelona
- Subjects
Male ,Infarction ,Brain Edema ,computer.software_genre ,lcsh:RC346-429 ,030218 nuclear medicine & medical imaging ,Machine Learning ,0302 clinical medicine ,Cerebrospinal fluid ,CSF segmentation ,Image Processing, Computer-Assisted ,Cerebral edema ,Stroke ,Aged, 80 and over ,Cerebral infarction ,Regular Article ,Cerebral Infarction ,Middle Aged ,Thresholding ,Neurology ,symbols ,lcsh:R858-859.7 ,Female ,Algorithm ,Algorithms ,Cognitive Neuroscience ,lcsh:Computer applications to medicine. Medical informatics ,Machine learning ,Ischemic stroke CT ,03 medical and health sciences ,symbols.namesake ,Mass effect ,Hounsfield scale ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,lcsh:Neurology. Diseases of the nervous system ,Aged ,Retrospective Studies ,business.industry ,medicine.disease ,Pearson product-moment correlation coefficient ,Active contour ,Neurology (clinical) ,Artificial intelligence ,Tomography, X-Ray Computed ,business ,computer ,030217 neurology & neurosurgery ,Random forest - Abstract
Although cerebral edema is a major cause of death and deterioration following hemispheric stroke, there remains no validated biomarker that captures the full spectrum of this critical complication. We recently demonstrated that reduction in intracranial cerebrospinal fluid (CSF) volume (∆ CSF) on serial computed tomography (CT) scans provides an accurate measure of cerebral edema severity, which may aid in early triaging of stroke patients for craniectomy. However, application of such a volumetric approach would be too cumbersome to perform manually on serial scans in a real-world setting. We developed and validated an automated technique for CSF segmentation via integration of random forest (RF) based machine learning with geodesic active contour (GAC) segmentation. The proposed RF + GAC approach was compared to conventional Hounsfield Unit (HU) thresholding and RF segmentation methods using Dice similarity coefficient (DSC) and the correlation of volumetric measurements, with manual delineation serving as the ground truth. CSF spaces were outlined on scans performed at baseline (, Highlights • Random forest with use of Haar-like features was used to segment CSF on CT scans. • This machine-learning algorithm performed better than Hounsfield Unit thresholding. • This automated method quantified change in CSF volume (∆ CSF) between CT scans. • ∆ CSF may quantify severity of cerebral edema after stroke. • Automated approaches to quantify cerebral edema may aid with large-scale studies.
- Published
- 2016
50. Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL
- Author
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Muiño, Elena, primary, Gallego-Fabrega, Cristina, additional, Cullell, Natalia, additional, Carrera, Caty, additional, Torres, Nuria, additional, Krupinski, Jurek, additional, Roquer, Jaume, additional, Montaner, Joan, additional, and Fernández-Cadenas, Israel, additional
- Published
- 2017
- Full Text
- View/download PDF
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