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297 results on '"Jimenez-Conde, Jordi"'

1. Correction to: Long-term vascular events after subarachnoid hemorrhage

Author

Fernandez-Perez, Isabel, Giralt-Steinhauer, Eva, Cuadrado-Godia, Elisa, Guimaraens, Leopoldo, Vivas, Elio, Saldaña, Jesus, Suárez-Pérez, Antoni, Macias-Gomez, Adria, Revert-Barbera, Anna, Estragues-Gazquez, Isabel, Rodríguez-Campello, Ana, Jiménez-Balado, Joan, Rey-Álvarez, Lucia, Roquer, Jaume, Jimenez-Conde, Jordi, and Ois, Angel

Published
2024
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2. Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke

Author

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

Subjects
Epidemiology, Health Sciences, Human Genome, Stroke, Genetics, Brain Disorders, Biotechnology, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, 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.

Published
2022

4. A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment

Author

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., Díez-Ahijado, Laia, Raffield, Laura M., Bielak, Lawrence F., Yanek, Lisa R., Kleber, Marcus E., Sabater-Lleal, Maria, Mueller, Martina, Kavousi, Maryam, Mangino, Massimo, Conomos, Matthew P., Liu, Melissa, Brown, Michael R., 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, 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, Gallego-Fabrega, Cristina, Temprano-Sagrera, Gerard, Cárcel-Márquez, Jara, Muiño, Elena, Cullell, Natalia, Lledós, Miquel, Llucià-Carol, Laia, Martin-Campos, Jesús M., Sobrino, Tomás, Castillo, José, Millán, Mònica, Muñoz-Narbona, Lucía, López-Cancio, Elena, Ribó, Marc, Alvarez-Sabin, Jose, Jiménez-Conde, Jordi, Roquer, Jaume, Tur, Silvia, Obach, Victor, Arenillas, Juan F., Segura, Tomas, Serrano-Heras, Gemma, Marti-Fabregas, Joan, Freijo-Guerrero, Marimar, Moniche, Francisco, Castellanos, Maria del Mar, and Fernández-Cadenas, Israel

Published
2024
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5. Brain volume: An important determinant of functional outcome after acute ischemic stroke

Author

Schirmer, Markus D., Donahue, Kathleen L., Nardin, Marco J., Dalca, Adrian V., Giese, Anne-Katrin, Etherton, Mark R., Mocking, Steven J. T., McIntosh, Elissa C., Cole, John W., Holmegaard, Lukas, Jood, Katarina, Jimenez-Conde, Jordi, Kittner, Steven J., Lemmens, Robin, Meschia, James F., Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, MD, Ralph L. Sacco, Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Stanne, Tara M., Vagal, Achala, Wasselius, Johan, Woo, Daniel, Bevan, Stephen, Heitsch, Laura, Phuah, Chia-Ling, MD, Daniel Strbian, Tatlisumak, Turgut, Levi, Christopher R., Attia, John, McArdle, Patrick F., Worrall, Bradford B., Wu, Ona, Jern, Christina, Lindgren, Arne, Maguire, Jane, Thijs, Vincent, and Rost, Natalia S.

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

Objective: To determine whether brain volume is associated with functional outcome after acute ischemic stroke (AIS). Methods: We analyzed cross-sectional data of the multi-site, international hospital-based MRI-GENetics Interface Exploration (MRI-GENIE) study (July 1, 2014- March 16, 2019) with clinical brain magnetic resonance imaging (MRI) obtained on admission for index stroke and functional outcome assessment. Post-stroke outcome was determined using the modified Rankin Scale (mRS) score (0-6; 0: asymptomatic; 6 death) recorded between 60-190 days after stroke. Demographics and other clinical variables including acute stroke severity (measured as National Institutes of Health Stroke Scale score), vascular risk factors, and etiologic stroke subtypes (Causative Classification of Stroke) were recorded during index admission. Results: Utilizing the data from 912 acute ischemic stroke (AIS) patients (65+/-15 years of age, 58% male, 57% history of smoking, and 65% hypertensive) in a generalized linear model, brain volume (per 155.1cm^3 ) was associated with age (beta -0.3 (per 14.4 years)), male sex (beta 1.0) and prior stroke (beta -0.2). In the multivariable outcome model, brain volume was an independent predictor of mRS (beta -0.233), with reduced odds of worse long-term functional outcomes (OR: 0.8, 95% CI 0.7-0.9) in those with larger brain volumes. Conclusions: Larger brain volume quantified on clinical MRI of AIS patients at time of stroke purports a protective mechanism. The role of brain volume as a prognostic, protective biomarker has the potential to forge new areas of research and advance current knowledge of mechanisms of post-stroke recovery.

Published
2020
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6. Long-term vascular events after subarachnoid hemorrhage

Author

Fernandez-Perez, Isabel, Giralt-Steinhauer, Eva, Cuadrado-Godia, Elisa, Guimaraens, Leopoldo, Vivas, Elio, Saldaña, Jesus, Suárez-Pérez, Antoni, Macias-Gomez, Adria, Revert-Barbera, Anna, Estragues-Gazquez, Isabel, Rodríguez-Campello, Ana, Jiménez-Balado, Joan, Rey-Álvarez, Lucia, Roquer, Jaume, Jimenez-Conde, Jordi, and Ois, Angel

Published
2022
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7. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Author

Chauhan, Ganesh, Adams, Hieab HH, 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, del C. Valdés Hernández, Maria, Luciano, Michelle, Liewald, David, Deary, Ian J, Starr, John M, Bastin, Mark E, Maniega, Susana Muñoz, 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 Wouter, Vernooij, Meike W, Hofman, Albert, Uitterlinden, André G, van der Lugt, Aad, Wittfeld, Katharina, Grabe, Hans J, Hosten, Norbert, von Sarnowski, Bettina, Völker, Uwe, Levi, Christopher, and Jimenez-Conde, Jordi

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Brain Disorders, Genetics, Cardiovascular, Prevention, Aging, Cerebrovascular, Stroke, Human Genome, 2.1 Biological and endogenous factors, Good Health and Well Being, Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts.MethodsWe performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI.ResultsThe mean prevalence was 17.7% for BI and 10.5% for SSBI, steeply rising after age 65. Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 × 10-8; and LINC00539/ZDHHC20, p = 5.82 × 10-9. Both have been associated with blood pressure (BP)-related phenotypes, but did not replicate in the smaller follow-up sample or show associations with related phenotypes. Age- and sex-adjusted associations with BI and SSBI were observed for BP traits (p value for BI, p [BI] = 9.38 × 10-25; p [SSBI] = 5.23 × 10-14 for hypertension), smoking (p [BI] = 4.4 × 10-10; p [SSBI] = 1.2 × 10-4), diabetes (p [BI] = 1.7 × 10-8; p [SSBI] = 2.8 × 10-3), previous cardiovascular disease (p [BI] = 1.0 × 10-18; p [SSBI] = 2.3 × 10-7), stroke (p [BI] = 3.9 × 10-69; p [SSBI] = 3.2 × 10-24), and MRI-defined white matter hyperintensity burden (p [BI] = 1.43 × 10-157; p [SSBI] = 3.16 × 10-106), but not with body mass index or cholesterol. GRS of BP traits were associated with BI and SSBI (p ≤ 0.0022), without indication of directional pleiotropy.ConclusionIn this multiethnic GWAS meta-analysis, including over 20,000 population-based participants, we identified genetic risk loci for BI requiring validation once additional large datasets become available. High BP, including genetically determined, was the most significant modifiable, causal risk factor for BI.

Published
2019

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

Author

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

Published
2022
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9. Multi-ethnic genome-wide association study for atrial fibrillation

Author

Roselli, Carolina, Chaffin, Mark D, Weng, Lu-Chen, Aeschbacher, Stefanie, Ahlberg, Gustav, Albert, Christine M, Almgren, Peter, Alonso, Alvaro, Anderson, Christopher D, Aragam, Krishna G, Arking, Dan E, Barnard, John, Bartz, Traci M, Benjamin, Emelia J, Bihlmeyer, Nathan A, Bis, Joshua C, Bloom, Heather L, Boerwinkle, Eric, Bottinger, Erwin B, Brody, Jennifer A, Calkins, Hugh, Campbell, Archie, Cappola, Thomas P, Carlquist, John, Chasman, Daniel I, Chen, Lin Y, Chen, Yii-Der Ida, Choi, Eue-Keun, Choi, Seung Hoan, Christophersen, Ingrid E, Chung, Mina K, Cole, John W, Conen, David, Cook, James, Crijns, Harry J, Cutler, Michael J, Damrauer, Scott M, Daniels, Brian R, Darbar, Dawood, Delgado, Graciela, Denny, Joshua C, Dichgans, Martin, Dörr, Marcus, Dudink, Elton A, Dudley, Samuel C, Esa, Nada, Esko, Tonu, Eskola, Markku, Fatkin, Diane, Felix, Stephan B, Ford, Ian, Franco, Oscar H, Geelhoed, Bastiaan, Grewal, Raji P, Gudnason, Vilmundur, Guo, Xiuqing, Gupta, Namrata, Gustafsson, Stefan, Gutmann, Rebecca, Hamsten, Anders, Harris, Tamara B, Hayward, Caroline, Heckbert, Susan R, Hernesniemi, Jussi, Hocking, Lynne J, Hofman, Albert, Horimoto, Andrea RVR, Huang, Jie, Huang, Paul L, Huffman, Jennifer, Ingelsson, Erik, Ipek, Esra Gucuk, Ito, Kaoru, Jimenez-Conde, Jordi, Johnson, Renee, Jukema, J Wouter, Kääb, Stefan, Kähönen, Mika, Kamatani, Yoichiro, Kane, John P, Kastrati, Adnan, Kathiresan, Sekar, Katschnig-Winter, Petra, Kavousi, Maryam, Kessler, Thorsten, Kietselaer, Bas L, Kirchhof, Paulus, Kleber, Marcus E, Knight, Stacey, Krieger, Jose E, Kubo, Michiaki, Launer, Lenore J, Laurikka, Jari, Lehtimäki, Terho, Leineweber, Kirsten, Lemaitre, Rozenn N, Li, Man, Lim, Hong Euy, Lin, Henry J, and Lin, Honghuang

Subjects
Biological Sciences, Genetics, Heart Disease, Cardiovascular, Human Genome, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Atrial Fibrillation, Case-Control Studies, Ethnicity, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Quantitative Trait Loci, Transcriptome, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Atrial fibrillation (AF) affects more than 33 million individuals worldwide1 and has a complex heritability2. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF.

Published
2018

10. Radiomics-Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke

Author

Bretzner, Martin, Bonkhoff, Anna K, Schirmer, Markus D., Hong, Sungmin, Dalca, Adrian, Donahue, Kathleen, Giese, Anne-Katrin, Etherton, Mark R, Rist, Pamela M, Nardin, Marco, Regenhardt, Robert W, Leclerc, Xavier, Lopes, Renaud, Gautherot, Morgan, Wang, Clinton, Benavente, Oscar R, Cole, John W., Donatti, Amanda, Griessenauer, Christoph, Heitsch, Laura, Holmegaard, Lukas, Jood, Katarina, Jimenez-Conde, Jordi, Kittner, Steven J, Lemmens, Robin, Levi, Christopher R, McArdle, Patrick F, McDonough, Caitrin W., Meschia, James F, Phuah, Chia-Ling, Rolfs, Arndt, Ropele, Stefan, Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Sousa, Alessandro, Stanne, Tara M, Strbian, Daniel, Tatlisumak, Turgut, Thijs, Vincent, Vagal, Achala, Wasselius, Johan, Woo, Daniel, Wu, Ona, Zand, Ramin, Worrall, Bradford B, Maguire, Jane, Lindgren, Arne G, Jern, Christina, Golland, Polina, Kuchcinski, Grégory, and Rost, Natalia S

Published
2022
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11. Contribution of Common Genetic Variants to Risk of Early Onset Ischemic Stroke

Author

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

Published
2022
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12. Association of Stroke Lesion Pattern and White Matter Hyperintensity Burden With Stroke Severity and Outcome

Author

Bonkhoff, Anna K, Hong, Sungmin, Bretzner, Martin, Schirmer, Markus D., Regenhardt, Robert W, Arsava, E. Murat, Donahue, Kathleen, Nardin, Marco, Dalca, Adrian, Giese, Anne-Katrin, Etherton, Mark R, Hancock, Brandon L., Mocking, Steven J.T., McIntosh, Elissa, Attia, John, Benavente, Oscar, Cole, John W., Donatti, Amanda, Griessenauer, Christoph, Heitsch, Laura, Holmegaard, Lukas, Jood, Katarina, Jimenez-Conde, Jordi, Kittner, Steven, Lemmens, Robin, Levi, Christopher, McDonough, Caitrin W., Meschia, James, Phuah, Chia-Ling, Rolfs, Arndt, Ropele, Stefan, Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Soederholm, Martin, Sousa, Alessandro, Stanne, Tara M, Strbian, Daniel, Tatlisumak, Turgut, Thijs, Vincent, Vagal, Achala, Wasselius, Johan, Woo, Daniel, Zand, Ramin, McArdle, Patrick, Worrall, Bradford B, Jern, Christina, Lindgren, Arne G, Maguire, Jane, Golland, Polina, Bzdok, Danilo, Wu, Ona, and Rost, Natalia S

Published
2022
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13. Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies

Author

Traylor, Matthew, Persyn, Elodie, Tomppo, Liisa, Klasson, Sofia, Abedi, Vida, Bakker, Mark K, Torres, Nuria, Li, Linxin, Bell, Steven, Rutten-Jacobs, Loes, Tozer, Daniel J, Griessenauer, Christoph J, Zhang, Yanfei, Pedersen, Annie, Sharma, Pankaj, Jimenez-Conde, Jordi, Rundek, Tatjana, Grewal, Raji P, Lindgren, Arne, Meschia, James F, Salomaa, Veikko, Havulinna, Aki, Kourkoulis, Christina, Crawford, Katherine, Marini, Sandro, Mitchell, Braxton D, Kittner, Steven J, Rosand, Jonathan, Dichgans, Martin, Jern, Christina, Strbian, Daniel, Fernandez-Cadenas, Israel, Zand, Ramin, Ruigrok, Ynte, Rost, Natalia, Lemmens, Robin, Rothwell, Peter M, Anderson, Christopher D, Wardlaw, Joanna, Lewis, Cathryn M, and Markus, Hugh S

Published
2021
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14. Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis

Author

Medina-Dols, Aina, Canellas, Guillem, Capo, Toni, Sole, Montse, Mola-Caminal, Marina, Cullell, Natalia, Jaume, Marina, Nadal-Salas, Laura, Llinas, Jaume, Gomez, Lluis, Tur, Silvia, Jimenez, Carmen, Diaz, Rosa M., Carrera, Caty, Muino, Elena, Gallego-Fabrega, Cristina, Soriano-Tarraga, Carolina, Ruiz-Guerra, Laura, Pol-Fuster, Josep, Asensio, Victor, Muncunill, Josep, Fleischer, Aarne, Iglesias, Amanda, Giralt-Steinhauer, Eva, Lazcano, Uxue, Fernandez-Perez, Isabel, Jimenez-Balado, Joan, Gabriel-Salazar, Marina, Garcia-Gabilondo, Miguel, Lei, Ting, Torres-Aguila, Nuria-Paz, Carcel-Marquez, Jara, Llado, Jeronia, Olmos, Gabriel, Rosell, Anna, Montaner, Joan, Planas, Anna M., Rabionet, Raquel, Hernandez-Guillamon, Mar, Jimenez-Conde, Jordi, Fernandez-Cadenas, Israel, Vives-Bauza, Cristofol, Medina-Dols, Aina, Canellas, Guillem, Capo, Toni, Sole, Montse, Mola-Caminal, Marina, Cullell, Natalia, Jaume, Marina, Nadal-Salas, Laura, Llinas, Jaume, Gomez, Lluis, Tur, Silvia, Jimenez, Carmen, Diaz, Rosa M., Carrera, Caty, Muino, Elena, Gallego-Fabrega, Cristina, Soriano-Tarraga, Carolina, Ruiz-Guerra, Laura, Pol-Fuster, Josep, Asensio, Victor, Muncunill, Josep, Fleischer, Aarne, Iglesias, Amanda, Giralt-Steinhauer, Eva, Lazcano, Uxue, Fernandez-Perez, Isabel, Jimenez-Balado, Joan, Gabriel-Salazar, Marina, Garcia-Gabilondo, Miguel, Lei, Ting, Torres-Aguila, Nuria-Paz, Carcel-Marquez, Jara, Llado, Jeronia, Olmos, Gabriel, Rosell, Anna, Montaner, Joan, Planas, Anna M., Rabionet, Raquel, Hernandez-Guillamon, Mar, Jimenez-Conde, Jordi, Fernandez-Cadenas, Israel, and Vives-Bauza, Cristofol

Abstract

Through GWAS studies we identified PATJ associated with functional outcome after ischemic stroke (IS). The aim of this study was to determine PATJ role in brain endothelial cells (ECs) in the context of stroke outcome. PATJ expression analyses in patient's blood revealed that: (i) the risk allele of rs76221407 induces higher expression of PATJ, (ii) PATJ is downregulated 24 h after IS, and (iii) its expression is significantly lower in those patients with functional independence, measured at 3 months with the modified Rankin scale ((mRS) <= 2), compared to those patients with marked disability (mRS = 4-5). In mice brains, PATJ was also downregulated in the injured hemisphere at 48 h after ischemia. Oxygen-glucose deprivation and hypoxia-dependent of Hypoxia Inducible Factor-1 alpha also caused PATJ depletion in ECs. To study the effects of PATJ downregulation, we generated PATJ-knockdown human microvascular ECs. Their transcriptomic profile evidenced a complex cell reprogramming involving Notch, TGF-ss, PI3K/Akt, and Hippo signaling that translates in morphological and functional changes compatible with endothelial to mesenchymal transition (EndMT). PATJ depletion caused loss of cell-cell adhesion, upregulation of metalloproteases, actin cytoskeleton remodeling, cytoplasmic accumulation of the signal transducer C-terminal transmembrane Mucin 1 (MUC1-C) and downregulation of Notch and Hippo signaling. The EndMT phenotype of PATJ-depleted cells was associated with the nuclear recruitment of MUC1-C, YAP/TAZ, beta-catenin, and ZEB1. Our results suggest that PATJ downregulation 24 h after IS promotes EndMT, an initial step prior to secondary activation of a pro-angiogenic program. This effect is associated with functional independence suggesting that activation of EndMT shortly after stroke onset is beneficial for stroke recovery.

Published
2024
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15. Epigenetics and Aging

Author

Soriano-Tárraga, Carolina, Jiménez-Conde, Jordi, Roquer, Jaume, Patel, Vinood B., editor, and Preedy, Victor R., editor

Published
2019
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16. Role of PATJ in Stroke Prognosis by modulating Endothelial to Mesenchymal Transition through the Hippo/Notch/PI3K Axis.

Author

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

Published
2023
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17. White matter hyperintensity burden in acute stroke patients differs by ischemic stroke subtype

Author

Giese, Anne-Katrin, Schirmer, Markus D., Dalca, Adrian V., Sridharan, Ramesh, Donahue, Kathleen L., Nardin, Marco, Irie, Robert, McIntosh, Elissa C., Mocking, Steven J.T., Xu, Huichun, Cole, John W., Giralt-Steinhauer, Eva, Jimenez-Conde, Jordi, Jern, Christina, Kleindorfer, Dawn O., Lemmens, Robin, Wasselius, Johan, Lindgren, Arne, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Thijs, Vincent, Worrall, Bradford B., Woo, Daniel, Kittner, Steven J., McArdle, Patrick F., Mitchell, Braxton D., Rosand, Jonathan, Meschia, James F., Wu, Ona, Golland, Polina, and Rost, Natalia S.

Published
2020
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18. Genome-Wide Association Study of White Blood Cell Counts in Patients With Ischemic Stroke

Author

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

Published
2019
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19. 17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage

Author

Marini, Sandro, Devan, William J., Radmanesh, Farid, Miyares, Laura, Poterba, Timothy, Hansen, Björn M., Norrving, Bo, Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano, Carolina, Roquer, Jaume, Kourkoulis, Christina E., Ayres, Alison M., Schwab, Kristin, Tirschwell, David L., Selim, Magdy, Brown, Devin L., Silliman, Scott L., Worrall, Bradford B., Meschia, James F., Kidwell, Chelsea S., Montaner, Joan, Fernandez-Cadenas, Israel, Delgado, Pilar, Greenberg, Steven M., Lindgren, Arne, Matouk, Charles, Sheth, Kevin N., Woo, Daniel, Anderson, Christopher D., Rosand, Jonathan, and Falcone, Guido J.

Published
2018
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20. Design and rationale for examining neuroimaging genetics in ischemic stroke: The MRI-GENIE study

Author

Giese, Anne-Katrin, Schirmer, Markus D., Donahue, Kathleen L., Cloonan, Lisa, Irie, Robert, Winzeck, Stefan, Bouts, Mark J.R.J., McIntosh, Elissa C., Mocking, Steven J., Dalca, Adrian V., Sridharan, Ramesh, Xu, Huichun, Frid, Petrea, Giralt-Steinhauer, Eva, Holmegaard, Lukas, Roquer, Jaume, Wasselius, Johan, Cole, John W., McArdle, Patrick F., Broderick, Joseph P., Jimenez-Conde, Jordi, Jern, Christina, Kissela, Brett M., Kleindorfer, Dawn O., Lemmens, Robin, Lindgren, Arne, Meschia, James F., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Thijs, Vincent, Woo, Daniel, Worrall, Bradford B., Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Golland, Polina, Wu, Ona, and Rost, Natalia S.

Published
2017
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22. Deep profiling of multiple ischemic lesions in a large, multi-center cohort: Frequency, spatial distribution, and associations to clinical characteristics

Author

Bonkhoff, Anna K., primary, Ullberg, Teresa, additional, Bretzner, Martin, additional, Hong, Sungmin, additional, Schirmer, Markus D., additional, Regenhardt, Robert W., additional, Donahue, Kathleen L., additional, Nardin, Marco J., additional, Dalca, Adrian V., additional, Giese, Anne-Katrin, additional, Etherton, Mark R., additional, Hancock, Brandon L., additional, Mocking, Steven J. T., additional, McIntosh, Elissa C., additional, Attia, John, additional, Cole, John W., additional, Donatti, Amanda, additional, Griessenauer, Christoph J., additional, Heitsch, Laura, additional, Holmegaard, Lukas, additional, Jood, Katarina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven J., additional, Lemmens, Robin, additional, Levi, Christopher R., additional, McDonough, Caitrin W., additional, Meschia, James F., additional, Phuah, Chia-Ling, additional, Ropele, Stefan, additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph L., additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Sousa, Alessandro, additional, Stanne, Tara M., additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Vagal, Achala, additional, Woo, Daniel, additional, Zand, Ramin, additional, McArdle, Patrick F., additional, Worrall, Bradford B., additional, Jern, Christina, additional, Lindgren, Arne G., additional, Maguire, Jane, additional, Wu, Ona, additional, Frid, Petrea, additional, Rost, Natalia S., additional, and Wasselius, Johan, additional

Published
2022
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23. The relevance of rich club regions for functional outcome post-stroke is enhanced in women

Author

Bonkhoff, Anna, primary, Schirmer, Markus, additional, Bretzner, Martin, additional, Hong, Sungmin, additional, Regenhardt, Robert, additional, Donahue, Kathleen, additional, Nardin, Marco, additional, Dalca, Adrian, additional, Giese, Anne-Katrin, additional, Etherton, Mark, additional, Hancock, Brandon, additional, Mocking, Steven, additional, McIntosh, Elissa, additional, Attia, John, additional, Cole, John, additional, Donatti, Amanda, additional, Griessenaur, Christoph, additional, Heitsch, Laura, additional, Holmegaard, Lukas, additional, Jood, Katharina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven, additional, Lemmens, Robin, additional, Levi, Christopher, additional, McDonough, Caitrin, additional, Meschia, James, additional, Phuah, Chia-Ling, additional, Ropele, Stefan, additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Sousa, Alessandro, additional, Stanne, Tara, additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Vagal, Achala, additional, Wasselius, Johan, additional, Woo, Daniel, additional, Zand, Ramin, additional, McArdle, Patrick, additional, Worrall, Bradford, additional, Jern, Christina, additional, Lindgren, Arne, additional, Maguire, Jane, additional, Wu, Ona, additional, and Rost, Natalia, additional

Published
2022
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24. Sex-specific lesion pattern of functional outcomes after stroke

Author

Bonkhoff, Anna K., Bretzner, Martin, Hong, Sungmin, Schirmer, Markus D., Cohen, Alexander, Regenhardt, Robert W., Donahue, Kathleen L., Nardin, Marco J., Dalca, Adrian Vasile, Giese, Anne-Katrin, Etherton, Mark R., Hancock, Brandon L., Mocking, Steven J. T., McIntosh, Elissa C., Attia, John, Benavente, Oscar R., Bevan, Stephen, Cole, John W., Donatti, Amanda, Griessenauer, Christoph J., Heitsch, Laura, Holmegaard, Lukas, Jood, Katarina, Jimenez-Conde, Jordi, Kittner, Steven J., Lemmens, Robin, Levi, Christopher R., McDonough, Caitrin W., Meschia, James F., Phuah, Chia-Ling, Rolfs, Arndt, Ropele, Stefan, Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Söderholm, Martin, Sousa, Alessandro, Stanne, Tara M., Strbian, Daniel, Tatlisumak, Turgut, Thijs, Vincent, Vagal, Achala, Wasselius, Johan, Woo, Daniel, Zand, Ramin, McArdle, Patrick F., Worrall, Bradford B., Jern, Christina, Lindgren, Arne G., Maguire, Jane, Fox, Michael D., Bzdok, Danilo, Wu, Ona, Rost, Natalia S., Universitat Autònoma de Barcelona, Neurologian yksikkö, and HUS Neurocenter

Subjects
sex differences, Science & Technology, AREA, General Engineering, 3112 Neurosciences, Clinical Neurology, Neurosciences, lesion patterns, 3124 Neurology and psychiatry, functional outcomes, Bayesian hierarchical modelling, Neurosciences & Neurology, HUMAN CEREBRAL-CORTEX, Life Sciences & Biomedicine, acute ischaemic stroke
Abstract

Relying on neuroimaging and clinical data of 822 acute stroke patients, Bonkhoff et al. report substantially more detrimental effects of lesions in left-hemispheric posterior circulation regions on functional outcomes in women compared to men. These findings may motivate a sex-specific clinical stroke management to improve outcomes in the longer term. Stroke represents a considerable burden of disease for both men and women. However, a growing body of literature suggests clinically relevant sex differences in the underlying causes, presentations and outcomes of acute ischaemic stroke. In a recent study, we reported sex divergences in lesion topographies: specific to women, acute stroke severity was linked to lesions in the left-hemispheric posterior circulation. We here determined whether these sex-specific brain manifestations also affect long-term outcomes. We relied on 822 acute ischaemic patients [age: 64.7 (15.0) years, 39% women] originating from the multi-centre MRI-GENIE study to model unfavourable outcomes (modified Rankin Scale >2) based on acute neuroimaging data in a Bayesian hierarchical framework. Lesions encompassing bilateral subcortical nuclei and left-lateralized regions in proximity to the insula explained outcomes across men and women (area under the curve = 0.81). A pattern of left-hemispheric posterior circulation brain regions, combining left hippocampus, precuneus, fusiform and lingual gyrus, occipital pole and latero-occipital cortex, showed a substantially higher relevance in explaining functional outcomes in women compared to men [mean difference of Bayesian posterior distributions (men - women) = -0.295 (90% highest posterior density interval = -0.556 to -0.068)]. Once validated in prospective studies, our findings may motivate a sex-specific approach to clinical stroke management and hold the promise of enhancing outcomes on a population level.

Published
2022

25. International stroke genetics consortium recommendations for studies of genetics of stroke outcome and recovery.

Author

Lindgren, Arne G, Lindgren, Arne G, Braun, Robynne G, Juhl Majersik, Jennifer, Clatworthy, Philip, Mainali, Shraddha, Derdeyn, Colin P, Maguire, Jane, Jern, Christina, Rosand, Jonathan, Cole, John W, Lee, Jin-Moo, Khatri, Pooja, Nyquist, Paul, Debette, Stéphanie, Keat Wei, Loo, Rundek, Tatjana, Leifer, Dana, Thijs, Vincent, Lemmens, Robin, Heitsch, Laura, Prasad, Kameshwar, Jimenez Conde, Jordi, Dichgans, Martin, Rost, Natalia S, Cramer, Steven C, Bernhardt, Julie, Worrall, Bradford B, Fernandez-Cadenas, Israel, International Stroke Genetics Consortium, Lindgren, Arne G, Lindgren, Arne G, Braun, Robynne G, Juhl Majersik, Jennifer, Clatworthy, Philip, Mainali, Shraddha, Derdeyn, Colin P, Maguire, Jane, Jern, Christina, Rosand, Jonathan, Cole, John W, Lee, Jin-Moo, Khatri, Pooja, Nyquist, Paul, Debette, Stéphanie, Keat Wei, Loo, Rundek, Tatjana, Leifer, Dana, Thijs, Vincent, Lemmens, Robin, Heitsch, Laura, Prasad, Kameshwar, Jimenez Conde, Jordi, Dichgans, Martin, Rost, Natalia S, Cramer, Steven C, Bernhardt, Julie, Worrall, Bradford B, Fernandez-Cadenas, Israel, and International Stroke Genetics Consortium

Abstract

Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke recovery in humans and identify intervention targets. Large sample sizes are needed to detect commonly occurring genetic variations related to stroke brain injury and recovery. However, this usually requires combining data from multiple studies where consistent terminology, methodology, and data collection timelines are essential. Our group of expert stroke and rehabilitation clinicians and researchers with knowledge in genetics of stroke recovery here present recommendations for harmonizing phenotype data with focus on measures suitable for multicenter genetic studies of ischemic stroke brain injury and recovery. Our recommendations have been endorsed by the International Stroke Genetics Consortium.

Published
2022

26. Stroke genetics informs drug discovery and risk prediction across ancestries

Author

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

27. COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

Author

Rannikmäe, Kristiina, Sivakumaran, Vhinoth, Millar, Henry, Malik, Rainer, Anderson, Christopher D., Chong, Mike, Dave, Tushar, Falcone, Guido J., Fernandez-Cadenas, Israel, Jimenez-Conde, Jordi, Lindgren, Arne, Montaner, Joan, OʼDonnell, Martin, Paré, Guillaume, Radmanesh, Farid, Rost, Natalia S., Slowik, Agnieszka, Söderholm, Martin, Traylor, Matthew, Pulit, Sara L., Seshadri, Sudha, Worrall, Brad B., Woo, Daniel, Markus, Hugh S., Mitchell, Braxton D., Dichgans, Martin, Rosand, Jonathan, and Sudlow, Cathie L.M.

Published
2017
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28. Genetic variants influencing elevated myeloperoxidase levels increase risk of stroke

Author

Phuah, Chia-Ling, Dave, Tushar, Malik, Rainer, Raffeld, Miriam R., Ayres, Alison M., Goldstein, Joshua N., Viswanathan, Anand, Greenberg, Steven M., Jagiella, Jeremiasz M., Hansen, Björn M., Norrving, Bo, Jimenez-Conde, Jordi, Roquer, Jaume, Pichler, Alexander, Enzinger, Christian, Montaner, Joan, Fernandez-Cadenas, Israel, Lindgren, Arne, Slowik, Agnieszka, Schmidt, Reinhold, Biffi, Alessandro, Rost, Natalia, Langefeld, Carl D., Markus, Hugh S., Mitchell, Braxton D., Worrall, Brad B., Kittner, Steven J., Woo, Daniel, Dichgans, Martin, Rosand, Jonathan, and Anderson, Christopher D.

Published
2017
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29. Genetic variation at 16q24.2 is associated with small vessel stroke

Author

Traylor, Matthew, Malik, Rainer, Nalls, Mike A., Cotlarciuc, Ioana, Radmanesh, Farid, Thorleifsson, Gudmar, Hanscombe, Ken B., Langefeld, Carl, Saleheen, Danish, Rost, Natalia S., Yet, Idil, Spector, Tim D., Bell, Jordana T., Hannon, Eilis, Mill, Jonathan, Chauhan, Ganesh, Debette, Stephanie, Bis, Joshua C., Longstreth, W.T., Jr., Ikram, M. Arfan, Launer, Lenore J., Seshadri, Sudha, Hamilton‐Bruce, Monica Anne, Jimenez‐Conde, Jordi, Cole, John W., Schmidt, Reinhold, Słowik, Agnieszka, Lemmens, Robin, Lindgren, Arne, Melander, Olle, Grewal, Raji P., Sacco, Ralph L., Rundek, Tatjana, Rexrode, Kathryn, Arnett, Donna K., Johnson, Julie A., Benavente, Oscar R., Wasssertheil‐Smoller, Sylvia, Lee, Jin‐Moo, Pulit, Sara L., Wong, Quenna, Rich, Stephen S., de Bakker, Paul I.W., McArdle, Patrick F., Woo, Daniel, Anderson, Christopher D., Xu, Huichun, Heitsch, Laura, Fornage, Myriam, Jern, Christina, Stefansson, Kari, Thorsteinsdottir, Unnur, Gretarsdottir, Solveig, Lewis, Cathryn M., Sharma, Pankaj, Sudlow, Cathie L.M., Rothwell, Peter M., Boncoraglio, Giorgio B., Thijs, Vincent, Levi, Chris, Meschia, James F., Rosand, Jonathan, Kittner, Steven J., Mitchell, Braxton D., Dichgans, Martin, Worrall, Bradford B., and Markus, Hugh S.

Published
2017
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30. APOE genotype and extent of bleeding and outcome in lobar intracerebral haemorrhage: a genetic association study

Author

Biffi, Alessandro, Anderson, Christopher D, Jagiella, Jeremiasz M, Schmidt, Helena, Kissela, Brett, Hansen, Björn M, Jimenez-Conde, Jordi, Pires, Caroline R, Ayres, Alison M, Schwab, Kristin, Cortellini, Lynelle, Pera, Joanna, Urbanik, Andrzej, Romero, Javier M, Rost, Natalia S, Goldstein, Joshua N, Viswanathan, Anand, Pichler, Alexander, Enzinger, Christian, Rabionet, Raquel, Norrving, Bo, Tirschwell, David L, Selim, Magdy, Brown, Devin L, Silliman, Scott L, Worrall, Bradford B, Meschia, James F, Kidwell, Chelsea S, Broderick, Joseph P, Greenberg, Steven M, Roquer, Jaume, Lindgren, Arne, Slowik, Agnieszka, Schmidt, Reinhold, Woo, Daniel, and Rosand, Jonathan

Published
2011
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34. Lesions in putative language and attention regions are linked to more severe strokes in patients with higher white matter hyperintensity burden

Author

Bonkhoff, Anna K, primary, Hong, Sungmin, additional, Bretzner, Martin, additional, Schirmer, Markus D, additional, Regenhardt, Robert W, additional, Arsava, Murat, additional, Donahue, Kathleen, additional, Nardin, Marco, additional, Dalca, Adrian, additional, Giese, Anne-Katrin, additional, Etherton, Mark, additional, Hancock, Brandon, additional, Mocking, Steven, additional, McIntosh, Elissa, additional, Attia, John, additional, Benavente, Oscar, additional, Cole, John W, additional, Donatti, Amanda, additional, Griessenauer, Christoph, additional, Heitsch, Laura, additional, Holmegaard, Lukas, additional, Jood, Katarina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven, additional, Lemmens, Robin, additional, Levi, Christopher, additional, McDonough, Caitrin, additional, Meschia, James, additional, Phuah, Chia-Ling, additional, Rolfs, Arndt, additional, Ropele, Stefan, additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Soederholm, Martin, additional, Sousa, Alessandro, additional, Stanne, Tara, additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Vagal, Achala, additional, Wasselius, Johan, additional, Woo, Daniel, additional, Zand, Ramin, additional, McArdle, Patrick, additional, Worrall, Bradford, additional, Jern, Christina, additional, Lindgren, Arne, additional, Maguire, Jane, additional, Golland, Polina, additional, Bzdok, Danilo, additional, Wu, Ona, additional, and Rost, Natalia S, additional

Published
2021
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35. Recommendations From the International Stroke Genetics Consortium, Part 2: Biological Sample Collection and Storage

Author

Battey, Thomas W.K., Valant, Valerie, Kassis, Sylvia Baedorf, Kourkoulis, Christina, Lee, Chaeyoung, Anderson, Christopher D., Falcone, Guido J., Jimenez-Conde, Jordi, Fernandez-Cadenas, Israel, Pare, Guillaume, Rundek, Tatjana, James, Michael L., Lemmens, Robin, Lee, Tsong-Hai, Tatlisumak, Turgut, Kittner, Steven J., Lindgren, Arne, Mateen, Farrah J., Berkowitz, Aaron L., Holliday, Elizabeth G., Majersik, Jennifer, Maguire, Jane, Sudlow, Cathie, and Rosand, Jonathan

Published
2015
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36. Pathogenic Ischemic Stroke Phenotypes in the NINDS-Stroke Genetics Network

Author

Ay, Hakan, Arsava, Ethem Murat, Andsberg, Gunnar, Benner, Thomas, Brown, Robert D., Jr, Chapman, Sherita N., Cole, John W., Delavaran, Hossein, Dichgans, Martin, Engström, Gunnar, Giralt-Steinhauer, Eva, Grewal, Raji P., Gwinn, Katrina, Jern, Christina, Jimenez-Conde, Jordi, Jood, Katarina, Katsnelson, Michael, Kissela, Brett, Kittner, Steven J., Kleindorfer, Dawn O., Labovitz, Daniel L., Lanfranconi, Silvia, Lee, Jin-Moo, Lehm, Manuel, Lemmens, Robin, Levi, Chris, Li, Linxin, Lindgren, Arne, Markus, Hugh S., McArdle, Patrick F., Melander, Olle, Norrving, Bo, Peddareddygari, Leema Reddy, Pedersén, Annie, Pera, Joanna, Rannikmäe, Kristiina, Rexrode, Kathryn M., Rhodes, David, Rich, Stephen S., Roquer, Jaume, Rosand, Jonathan, Rothwell, Peter M., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Schürks, Markus, Seiler, Stephan, Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie, Thijs, Vincent, Woodfield, Rebecca, Worrall, Bradford B., and Meschia, James F.

Published
2014
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37. MRI Radiomic Signature of White Matter Hyperintensities Is Associated With Clinical Phenotypes

Author

Bretzner, Martin, primary, Bonkhoff, Anna K., additional, Schirmer, Markus D., additional, Hong, Sungmin, additional, Dalca, Adrian V., additional, Donahue, Kathleen L., additional, Giese, Anne-Katrin, additional, Etherton, Mark R., additional, Rist, Pamela M., additional, Nardin, Marco, additional, Marinescu, Razvan, additional, Wang, Clinton, additional, Regenhardt, Robert W., additional, Leclerc, Xavier, additional, Lopes, Renaud, additional, Benavente, Oscar R., additional, Cole, John W., additional, Donatti, Amanda, additional, Griessenauer, Christoph J., additional, Heitsch, Laura, additional, Holmegaard, Lukas, additional, Jood, Katarina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven J., additional, Lemmens, Robin, additional, Levi, Christopher R., additional, McArdle, Patrick F., additional, McDonough, Caitrin W., additional, Meschia, James F., additional, Phuah, Chia-Ling, additional, Rolfs, Arndt, additional, Ropele, Stefan, additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph L., additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Sousa, Alessandro, additional, Stanne, Tara M., additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Vagal, Achala, additional, Wasselius, Johan, additional, Woo, Daniel, additional, Wu, Ona, additional, Zand, Ramin, additional, Worrall, Bradford B., additional, Maguire, Jane M., additional, Lindgren, Arne, additional, Jern, Christina, additional, Golland, Polina, additional, Kuchcinski, Grégory, additional, and Rost, Natalia S., additional

Published
2021
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38. Causal Effect of MMP-1 (Matrix Metalloproteinase-1), MMP-8, and MMP-12 Levels on Ischemic Stroke

Author

Cárcel-Márquez, Jara, primary, Cullell, Natalia, additional, Muiño, Elena, additional, Gallego-Fabrega, Cristina, additional, Lledós, Miquel, additional, Ibañez, Laura, additional, Krupinski, Jerzy, additional, Montaner, Joan, additional, Cruchaga, Carlos, additional, Lee, Jin-Moo, additional, Gill, Dipender, additional, Paré, Guillaume, additional, Mola-Caminal, Marina, additional, Roquer, Jaume, additional, Jimenez-Conde, Jordi, additional, Martí-Fàbregas, Joan, additional, and Fernandez-Cadenas, Israel, additional

Published
2021
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39. The copy number variation and stroke (CaNVAS) risk and outcome study

Author

Cole, John W., Adigun, Taiwo, Akinyemi, Rufus, Akpa, Onoja Matthew, Bell, Steven, Chen, Bowang, Jimenez-Conde, Jordi, Lazcano, Uxue, Fernandez-Cadenas, Israel, Fornage, Myriam, Gallego-Fabrega, Cristina, Jern, Christina, Krawczak, Michael, Lindgren, Arne, Markus, Hugh S., Melander, Olle, Owolabi, Mayowa, Schlicht, Kristina, Söderholm, Martin, Srinivasasainagendra, Vinodh, Soriano Tárraga, Carolina, Stenman, Martin, Tiwari, Hemant, Corasaniti, Margaret, Fecteau, Natalie, Guizzardi, Beth, Lopez, Haley, Nguyen, Kevin, Gaynor, Brady, O'Connor, Timothy, Stine, O. Colin, Kittner, Steven J., McArdle, Patrick, Mitchell, Braxton D., Xu, Huichun, Grond-Ginsbach, Caspar, Universitat Autònoma de Barcelona, Cole, John W [0000-0001-9263-8930], Lazcano Dobao, Uxue [0000-0003-3948-3372], Gaynor, Brady [0000-0002-4142-0613], Xu, Huichun [0000-0001-8118-9607], and Apollo - University of Cambridge Repository

Subjects
Oncology, Male, Proteomics, Microarrays, Single Nucleotide Polymorphisms, Genome-wide association study, Pilot Projects, Cardiovascular Medicine, Vascular Medicine, Biochemistry, Study Protocol, Medical Conditions, Consortia, Risk Factors, Databases, Genetic, Outcome Assessment, Health Care, Ethnicity, Medicine and Health Sciences, Exome, Copy-number variation, Stroke, Multidisciplinary, Genomics, Copy Number Variation, Phenotype, Bioassays and Physiological Analysis, Neurology, Cardiovascular Diseases, Biomarker (medicine), Medicine, Female, medicine.medical_specialty, DNA Copy Number Variations, Genotype, Science, Cerebrovascular Diseases, Cardiology, Single-nucleotide polymorphism, Genome Complexity, Research and Analysis Methods, Polymorphism, Single Nucleotide, Internal medicine, medicine, Genome-Wide Association Studies, Genetics, Humans, Genetic Predisposition to Disease, Genotyping, Ischemic Stroke, business.industry, Case-control study, Biology and Life Sciences, Computational Biology, Human Genetics, Cardiovascular Disease Risk, medicine.disease, Genome Analysis, MicroRNAs, Case-Control Studies, business, Biomarkers, Genome-Wide Association Study
Abstract

Background and purpose The role of copy number variation (CNV) variation in stroke susceptibility and outcome has yet to be explored. The Copy Number Variation and Stroke (CaNVAS) Risk and Outcome study addresses this knowledge gap. Methods Over 24,500 well-phenotyped IS cases, including IS subtypes, and over 43,500 controls have been identified, all with readily available genotyping on GWAS and exome arrays, with case measures of stroke outcome. To evaluate CNV-associated stroke risk and stroke outcome it is planned to: 1) perform Risk Discovery using several analytic approaches to identify CNVs that are associated with the risk of IS and its subtypes, across the age-, sex- and ethnicity-spectrums; 2) perform Risk Replication and Extension to determine whether the identified stroke-associated CNVs replicate in other ethnically diverse datasets and use biomarker data (e.g. methylation, proteomic, RNA, miRNA, etc.) to evaluate how the identified CNVs exert their effects on stroke risk, and lastly; 3) perform outcome-based Replication and Extension analyses of recent findings demonstrating an inverse relationship between CNV burden and stroke outcome at 3 months (mRS), and then determine the key CNV drivers responsible for these associations using existing biomarker data. Results The results of an initial CNV evaluation of 50 samples from each participating dataset are presented demonstrating that the existing GWAS and exome chip data are excellent for the planned CNV analyses. Further, some samples will require additional considerations for analysis, however such samples can readily be identified, as demonstrated by a sample demonstrating clonal mosaicism. Conclusion The CaNVAS study will cost-effectively leverage the numerous advantages of using existing case-control data sets, exploring the relationships between CNV and IS and its subtypes, and outcome at 3 months, in both men and women, in those of African and European-Caucasian descent, this, across the entire adult-age spectrum.

Published
2021

40. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Author

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

Subjects
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.

Published
2021

41. International stroke genetics consortium recommendations for studies of genetics of stroke outcome and recovery

Author

Lindgren, Arne G, Braun, Robynne G, Juhl Majersik, Jennifer, Clatworthy, Philip, Mainali, Shraddha, Derdeyn, Colin P, Maguire, Jane, Jern, Christina, Rosand, Jonathan, Cole, John W., Lee, Jin-Moo, Khatri, Pooja, Nyquist, Paul, Debette, Stéphanie, Keat Wei, Loo, Rundek, Tatjana, Leifer, Dana, Thijs, Vincent, Lemmens, Robin, Heitsch, Laura, Prasad, Kameshwar, Jimenez-Conde, Jordi, Dichgans, Martin, Rost, Natalia S, Cramer, Steven C, Bernhardt, Julie, Worrall, Bradford B, Fernandez-Cadenas, Israel, Universitat Autònoma de Barcelona, Lindgren, Arne G, Braun, Robynne G, Juhl Majersik, Jennifer, Clatworthy, Philip, Mainali, Shraddha, Derdeyn, Colin P, Maguire, Jane, Jern, Christina, Rosand, Jonathan, Cole, John W., Lee, Jin-Moo, Khatri, Pooja, Nyquist, Paul, Debette, Stéphanie, Keat Wei, Loo, Rundek, Tatjana, Leifer, Dana, Thijs, Vincent, Lemmens, Robin, Heitsch, Laura, Prasad, Kameshwar, Jimenez-Conde, Jordi, Dichgans, Martin, Rost, Natalia S, Cramer, Steven C, Bernhardt, Julie, Worrall, Bradford B, Fernandez-Cadenas, Israel, and Universitat Autònoma de Barcelona

Abstract

Numerous biological mechanisms contribute to outcome after stroke, including brain injury, inflammation, and repair mechanisms. Clinical genetic studies have the potential to discover biological mechanisms affecting stroke recovery in humans and identify intervention targets. Large sample sizes are needed to detect commonly occurring genetic variations related to stroke brain injury and recovery. However, this usually requires combining data from multiple studies where consistent terminology, methodology, and data collection timelines are essential. Our group of expert stroke and rehabilitation clinicians and researchers with knowledge in genetics of stroke recovery here present recommendations for harmonizing phenotype data with focus on measures suitable for multicenter genetic studies of ischemic stroke brain injury and recovery. Our recommendations have been endorsed by the International Stroke Genetics Consortium.

Published
2021

42. Radiomics-Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke

Author

Bretzner, Martin, Bonkhoff, Anna K., Schirmer, Markus D., Hong, Sungmin, Dalca, Adrian, Donahue, Kathleen, Giese, Anne-Katrin, Etherton, Mark R., Rist, Pamela M., Nardin, Marco, Regenhardt, Robert W., Leclerc, Xavier, Lopes, Renaud, Gautherot, Morgan, Wang, Clinton, Benavente, Oscar R., Cole, John W., Donatti, Amanda, Griessenauer, Christoph, Heitsch, Laura, Holmegaard, Lukas, Jood, Katarina, Jimenez-Conde, Jordi, Kittner, Steven J., Lemmens, Robin, Levi, Christopher R., McArdle, Patrick F., McDonough, Caitrin W., Meschia, James F., Phuah, Chia-Ling, Rolfs, Arndt, Ropele, Stefan, Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Sousa, Alessandro, Stanne, Tara M., Strbian, Daniel, Tatlisumak, Turgut, Thijs, Vincent, Vagal, Achala, Wasselius, Johan, Woo, Daniel, Wu, Ona, Zand, Ramin, Worrall, Bradford B., Maguire, Jane, Lindgren, Arne G., Jern, Christina, Golland, Polina, Kuchcinski, Grégory, and Rost, Natalia S.

Published
2023
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43. Radiomic Signature of White Matter Hyperintensities Is Associated With Clinical Phenotypes

Author

Bretzner, Martin, primary, Bonkhoff, Anna K., additional, Schirmer, Markus D., additional, Hong, Sungmin, additional, Dalca, Adrian V., additional, Donahue, Kathleen L., additional, Giese, Anne-Katrin, additional, Etherton, Mark R., additional, Nardin, Marco, additional, Marinescu, Razvan, additional, Wang, Clinton, additional, Regenhardt, Robert W., additional, Leclerc, Xavier, additional, Lopes, Renaud, additional, Benavente, Oscar R., additional, Cole, John W., additional, Donatti, Amanda, additional, Griessenauer, Christoph J., additional, Heitsch, Laura, additional, Holmegaard, Lukas, additional, Jood, Katarina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven J., additional, Lemmens, Robin, additional, Levi, Christopher R., additional, McArdle, Patrick D., additional, McDonough, Caitrin W., additional, Meschia, James F., additional, Phuah, Chia-Ling, additional, Rolfs, Arndt, additional, Ropele, Stefan, additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph L., additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Sousa, Alessandro, additional, Stanne, Tara M., additional, Strebian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Vagal, Achala, additional, Wasselius, Johan, additional, Woo, Daniel, additional, Wu, Ona, additional, Zand, Ramin, additional, Worrall, Bradford B., additional, Maguire, Jane, additional, Lindgren, Arne, additional, Jern, Christina, additional, Golland, Polina, additional, Kuchcinski, Grégory, additional, Rost, Natalia S., additional, Investigators, MRI-GENIE and GISCOME, additional, and Consortium, International Stroke Genetics, additional

Published
2021
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44. Heritability Estimates Identify a Substantial Genetic Contribution to Risk and Outcome of Intracerebral Hemorrhage

Author

Devan, William J., Falcone, Guido J., Anderson, Christopher D., Jagiella, Jeremiasz M., Schmidt, Helena, Hansen, Björn M., Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Cuadrado-Godia, Elisa, Soriano, Carolina, Ayres, Alison M., Schwab, Kristin, Kassis, Sylvia Baedorf, Valant, Valerie, Pera, Joanna, Urbanik, Andrzej, Viswanathan, Anand, Rost, Natalia S., Goldstein, Joshua N., Freudenberger, Paul, Stögerer, Eva-Maria, Norrving, Bo, Tirschwell, David L., Selim, Magdy, Brown, Devin L., Silliman, Scott L., Worrall, Bradford B., Meschia, James F., Kidwell, Chelsea S., Montaner, Joan, Fernandez-Cadenas, Israel, Delgado, Pilar, Greenberg, Steven M., Roquer, Jaume, Lindgren, Arne, Slowik, Agnieszka, Schmidt, Reinhold, Woo, Daniel, Rosand, Jonathan, and Biffi, Alessandro

Published
2013
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46. Burden of Risk Alleles for Hypertension Increases Risk of Intracerebral Hemorrhage

Author

Falcone, Guido J., Biffi, Alessandro, Devan, William J., Jagiella, Jeremiasz M., Schmidt, Helena, Kissela, Brett, Hansen, Björn M., Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano, Carolina, Ayres, Alison M., Schwab, Kristin, Pera, Joanna, Urbanik, Andrzej, Rost, Natalia S., Goldstein, Joshua N., Viswanathan, Anand, Pichler, Alexander, Enzinger, Christian, Norrving, Bo, Tirschwell, David L., Selim, Magdy, Brown, Devin L., Silliman, Scott L., Worrall, Bradford B., Meschia, James F., Kidwell, Chelsea S., Montaner, Joan, Fernandez-Cadenas, Israel, Delgado, Pilar, Broderick, Joseph P., Greenberg, Steven M., Roquer, Jaume, Lindgren, Arne, Slowik, Agnieszka, Schmidt, Reinhold, Flaherty, Matthew L., Kleindorfer, Dawn O., Langefeld, Carl D., Woo, Daniel, and Rosand, Jonathan

Published
2012
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47. Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke

Author

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

Published
2020
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48. Brain Volume: An Important Determinant of Functional Outcome After Acute Ischemic Stroke

Author

Schirmer, Markus D., primary, Donahue, Kathleen L., additional, Nardin, Marco J., additional, Dalca, Adrian V., additional, Giese, Anne-Katrin, additional, Etherton, Mark R., additional, Mocking, Steven J.T., additional, McIntosh, Elissa C., additional, Cole, John W., additional, Holmegaard, Lukas, additional, Jood, Katarina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven J., additional, Lemmens, Robin, additional, Meschia, James F., additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph L., additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Stanne, Tara M., additional, Vagal, Achala, additional, Wasselius, Johan, additional, Woo, Daniel, additional, Bevan, Stephen, additional, Heitsch, Laura, additional, Phuah, Chia-Ling, additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Levi, Christopher R., additional, Attia, John, additional, McArdle, Patrick F., additional, Worrall, Bradford B., additional, Wu, Ona, additional, Jern, Christina, additional, Lindgren, Arne, additional, Maguire, Jane, additional, Thijs, Vincent, additional, and Rost, Natalia S., additional

Published
2020
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49. The Association of SUR1 Polymorphisms with Acute Infarct Size: The MRI-GENIE Study (1348)

Author

Deng, Arlinda, primary, Xu, Huichun, additional, Giese, Anne-Katrin, additional, Schirmer, Markus, additional, Donahue, Kathleen, additional, Golland, Polina, additional, Irie, Robert, additional, McIntosh, Elissa, additional, Cole, John, additional, McArdle, Patrick, additional, Broderick, Joseph, additional, Jimenez-Conde, Jordi, additional, Jern, Christina, additional, Lemmens, Robin, additional, Lindgren, Arne, additional, Meschia, James, additional, Rosand, Jonathan, additional, Sharma, Pankaj, additional, Rundek, Tatjana, additional, Sacco, Ralph, additional, Schmidt, Reinhold, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Woo, Daniel, additional, Worrall, Bradford, additional, Mitchell, Braxton, additional, Wu, Ona, additional, Rost, Natalia, additional, and Kittner, Steven, additional

Published
2020
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50. Abstract WP73: Automatic Classification of Clinical MRI Stroke Datasets With a Recurrent Convolutional Neural Network

Author

Liu, Yichuan, primary, Hancock, Brandon L, additional, Hoang, Tri, additional, Etherton, Mark R, additional, Mocking, Steven J, additional, McIntosh, Elissa C, additional, Irie, Robert E, additional, Bouts, Mark J, additional, Broderick, Joseph P, additional, Cole, John W, additional, Donahue, Kathleen L, additional, Giese, Anne-Katrin, additional, Giralt-Steinhauer, Eva, additional, Jimenez-Conde, Jordi, additional, Jern, Christina, additional, Kittner, Steven J, additional, Kleindorfer, Dawn, additional, Lemmens, Robin, additional, McArdle, Patrick F, additional, Meschia, James F, additional, Lindgren, Arne G, additional, Rosand, Jonathan, additional, Rundek, Tatjana, additional, Sacco, Ralph L, additional, Schirmer, Markus D, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Wasselius, Johan, additional, Worrall, Bradford B, additional, Rost, Natalia S, additional, and Wu, Ona, additional

Published
2020
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