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51. Abstract 152: Genome-wide Association Study of Early-Onset Ischemic Stroke Identifies Novel Locus on Chromosome 12 Near BCL7A/MLXIP

Author

Jaworek, Thomas, primary, Kittner, Steven J, additional, Jern, Christina, additional, de Leeuw, Frank Erik, additional, Dichgans, Martin, additional, Malik, Rainer, additional, Fernandez, Israel, additional, Slowik, Agnieszka, additional, Boncoraglio, Giorgio Boncoraglio, additional, Lindgren, Arne, additional, Jimenez-Conde, Jordi, additional, Schmidt, Reinhold, additional, Sharma, Pankah, additional, Lemmens, Robin, additional, Melander, Olle, additional, Rothwell, Peter, additional, Levi, Christopher, additional, Sudlow, Catherine, additional, Debette, Stephanie, additional, Howson, Joanna, additional, Pare, Guillaume, additional, Markus, Hugh, additional, Salaheen, Danish, additional, Zand, Ramin, additional, Worrall, Brad, additional, Meschia, James, additional, Rundek, Tatjana, additional, Woo, Dan, additional, Lee, Jin-Moo, additional, Irvin, Ryan, additional, Rexrode, Kathyn, additional, Smoller, Sylvia, additional, Rosand, Jonathan, additional, Mueller, Martina, additional, and Salomaa, Veikko, additional

Published
2020
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55. Association of Apolipoprotein e with Intracerebral Hemorrhage Risk by Race/Ethnicity : A Meta-analysis

Author

Marini, Sandro, Crawford, Katherine, Morotti, Andrea, Lee, Myung J, Pezzini, Alessandro, Moomaw, Charles J, Flaherty, Matthew L, Montaner, Joan, Roquer, Jaume, Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano-Tarraga, Carolina, Slowik, Agnieszka, Jagiella, Jeremiasz M, Pera, Joanna, Urbanik, Andrzej, Pichler, Alexander, Hansen, Bjorn M, McCauley, Jacob L, Tirschwell, David L, Selim, Magdy, Brown, Devin L, Silliman, Scott L, Worrall, Bradford B, Meschia, James F, Kidwell, Chelsea S, Testai, Fernando D, Kittner, Steven J, Schmidt, Helena, Enzinger, Christian, Deary, Lan J, Rannikmae, Kristiina, Samarasekera, Neshika, Salman, Rustam Al-Shahi, Sudlow, Catherine L, Klijn, Catharina JM, van Nieuwenhuizen, Koen M, Fernandez-Cadenas, Israel, Delgado, Pilar, Nonving, Bo, Lindgren, Ame, Goldstein, Joshua N, Viswanathan, Anand, Greenberg, Steven M, Falcone, Guido J, Biffi, Alessandro, Langefeld, Carl D, Woo, Daniel, Rosand, Jonathan, Anderson, Christopher D, Smoller, Sylvia, Sorkin, John, Wang, Xingwu, Pikula, Aleksandra, Wolf, Philip, Debette, Stephanie, Seshadri, Sudha, de Bakker, Paul, Chasman, Daniel, Rexrode, Kathryn, Chen, Ida, Rotter, Jerome, Luke, May, Sale, Michelle, Lee, Tsong-Hai, Chang, Ku-Chou, Elkind, Mitchell, Goldstein, Larry, James, Michael Luke, Breteler, Monique, O'Donnell, Chris, Leys, Didier, Carty, Cara, Kidwell, Chelsea, Olesen, Jes, Sharma, Pankaj, Rich, Stephen, Tatlisumak, Turgot, Happola, Olli, Bijlenga, Philippe, Soriano, Carolina, Giralt, Eva, Cotlarcius, Loana, Hardy, John, Korostynski, Michal, Boncoraglio, Giorgio, Ballabio, Elena, Parati, Eugenio, Mateusz, Adamski, Dziedzic, Tomasz, Jagiella, Jeremiasz, Gasowski, Jerzy, Wnuk, Marcin, Olszanecki, Rafaf, Juchniewicz, Karol Jozef, Levi, Christopher, Nyquist, Paul, Cendes, Iscia, Cabral, Norberto, Franca, Paulo, Goncalves, Anderson, Keller, Lina, Crisby, Milita, Kostulas, Konstantinos, Lennnnens, Robin, Ahmadi, Kourosh, Opherk, Christian, Duering, Marco, Dichgans, Martin, Malik, Rainer, Gonik, Mariya, Staals, Julie, Melander, Olle, Burri, Philippe, Sadr-Nabavi, Ariane, Romero, Javier, Anderson, Chris, Falcone, Guido, Brouwers, Bart, Rost, Natalia, Du, Rose, Kourkoulis, Christina, Battey, Thomas, Lubitz, Steven, Mueller-Myhsok, Bertram, Meschia, James, Brott, Thomas, Pare, Guillaume, Schmidt, Reinhold, Seiler, Stephan, Blanton, Susan, Yamada, Yoshiji, Bersano, Anna, Rundek, Tatiana, Sacco, Ralph, Chan, Yu-Feng Yvonne, Gschwendtner, Andreas, Deng, Zhen, Barr, Taura, Gwinn, Katrina, Corriveau, Roderick, Singleton, Andrew, Waddy, Salina, Launer, Lenore, Chen, Christopher, Le, Kim En, Lee, Wei Ling, Tan, Eng King, Olugbodi, Akintomi, Rothwell, Peter, Schilling, Sabrina, Mok, Vincent, Lebedeva, Elena, Jem, Christina, Jood, Katarina, Olsson, Sandra, Kim, Helen, Lee, Chaeyoung, Kilarski, Laura, Markus, Hugh, Peycke, Jennifer, Bevan, Steve, Sheu, Wayne, Chiou, Hung Yi, Chern, Joseph, Giraldo, Elias, Taqi, Muhammad, Jain, Vivek, Lam, Olivia, Howard, George, Kittner, Steven, Mitchell, Braxton, Cole, John, O'Connell, Jeff, Milewicz, Dianna, Illoh, Kachikwu, Worrall, Bradford, Stine, Colin, Karaszewski, Bartosz, Werring, David, Sofat, Reecha, Smalley, June, Lindgren, Arne, Hansen, Bjorn, Norrving, Bo, Smith, Gustav, Martin, Juan Jose, Thijs, Vincent, Klijn, Karin, van't Hof, Femke, Algra, Ale, Macleod, Mary, Perry, Rodney, Arnett, Donna, Padovani, Alessandro, Cramer, Steve, Fisher, Marl, Saleheen, Danish, Broderick, Joseph, Kissela, Brett, Doney, Alex, Sudlow, Cathie, Silliman, Scott, McDonough, Caitrin, Walters, Matthew, Pedersen, Annie, Nakagawa, Kazuma, Chang, Christy, Dobbins, Mark, McArdle, Patrick, Chang, Yu-Ching, Brown, Robert, Brown, Devin, Holliday, Elizabeth, Kalaria, Raj, Maguire, Jane, Hunter, John, Attia, John, Farrall, Martin, Giese, Anne-Katrin, Fomage, Myriam, Majersik, Jennifer, Cushman, Maly, Keene, Keith, Bennett, Siiri, Tirschwell, David, Psaty, Bruce, Reiner, Alex, Longstreth, Will, Spence, David, Langefeld, Carl, Bushnell, Cheryl, Heitsch, Laura, Lee, Jin-Moo, Sheth, Kevin, Consortium, Int Genetics, Neurologian yksikkö, Department of Neurosciences, Clinicum, Doctoral Programme in Clinical Research, HUS Neurocenter, RS: Carim - B05 Cerebral small vessel disease, RS: CARIM - R3.03 - Cerebral small vessel disease, and Epidemiology

Subjects
Male, Race ethnicity, Hemorràgia cerebral, 3124 Neurology and psychiatry, 0302 clinical medicine, Risk Factors, WHITES, BLACKS, 030212 general & internal medicine, Biological sciences, Original Investigation, ALZHEIMER-DISEASE, African Americans, Aged, 80 and over, GENETIC-VARIATION, Hispanic or Latino, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Medical research, University hospital, 3. Good health, ETHNICITY, ALLELE, Research centre, Hypertension, lipids (amino acids, peptides, and proteins), Female, Apolipoprotein E, Core laboratory, Hispanic Americans, medicine.medical_specialty, COA REDUCTASE INHIBITORS, European Continental Ancestry Group, Clinical Neurology, Raça, APOE EPSILON-4, White People, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Apolipoproteins E, Political science, medicine, Journal Article, Online First, Humans, Genetic Predisposition to Disease, cardiovascular diseases, General hospital, Aged, Cerebral Hemorrhage, Research, LOBAR, 3112 Neurosciences, E GENOTYPE, United States, nervous system diseases, Black or African American, Cognitive epidemiology, Family medicine, Case-Control Studies, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

Key Points Question Is history of hypertension and apolipoprotein E (APOE) associated with intracerebral hemorrhage risk in participants stratified by self-reported race/ethnicity? Findings In this case-control study of 13 124 adults, having a copy of APOE ε4 alleles increased the risk for lobar intracerebral hemorrhage only in white individuals, but after propensity score matching for hypertension burden, Hispanic individuals showed the same risk of APOE ε4. Meaning APOE ε4 appears to be confirmed as a risk factor for lobar intracerebral hemorrhage in nonwhite populations but is masked by differential hypertension burden in Hispanic individuals; further studies are needed to explore the interactions between APOE alleles and environmental exposures., Importance Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. Transethnic analysis of risk may clarify the role of genetics in ICH risk across populations. Objective To evaluate associations between established differences in ICH risk by race/ethnicity and the variability in the risks of apolipoprotein E (APOE) ε4 alleles, the most potent genetic risk factor for ICH. Design, Setting, and Participants This case-control study of primary ICH meta-analyzed the association of APOE allele status on ICH risk, applying a 2-stage clustering approach based on race/ethnicity and stratified by a contributing study. A propensity score analysis was used to model the association of APOE with the burden of hypertension across race/ethnic groups. Primary ICH cases and controls were collected from 3 hospital- and population-based studies in the United States and 8 in European sites in the International Stroke Genetic Consortium. Participants were enrolled from January 1, 1999, to December 31, 2017. Participants with secondary causes of ICH were excluded from enrollment. Controls were regionally matched within each participating study. Main Outcomes and Measures Clinical variables were systematically obtained from structured interviews within each site. APOE genotype was centrally determined for all studies. Results In total, 13 124 participants (7153 [54.5%] male with a median [interquartile range] age of 66 [56-76] years) were included. In white participants, APOE ε2 (odds ratio [OR], 1.49; 95% CI, 1.24-1.80; P, This case-control study examines whether the risk for intracerebral hemorrhage presented by apolipoprotein E ε4 and ε2 alleles varies by race/ethnicity.

Published
2019

56. Association of apolipoprotein E with intracerebral hemorrhage risk by race/ethnicity

Author

Marini, Sandro, Crawford, Katherine, Morotti, Andrea, Lee, Myung, Pezzini, Alessandro, Moomaw, Charles, Flaherty, Matthew, Montaner, Joan, Roquer, Jaume, Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano-Tarraga, Carolina, Słowik, Agnieszka, Jagiełła, Jeremiasz, Pera, Joanna, Urbanik, Andrzej, Pichler, Alexander, Hansen, Bjorn, McCauley, Jacob, Tirschwell, David, Selim, Magdy, Brown, Devin, Silliman, Scott, Worrall, Bradford, Meschia, James, Kidwell, Chelsea, Testai, Fernando, Kittner, Steven, Schmidt, Helena, Enzinger, Christian, Deary, Ian, Rannikmae, Kristiina, Samarasekera, Neshika, Al-Shahi Salman, Rustam, Sudlow, Catherine, Klijn, Catharina, van Nieuwenhuizen, Koen, Fernandez-Cadenas, Israel, Delgado, Pilar, Norrving, Bo, Lindgren, Arne, Goldstein, Joshua, Viswanathan, Anand, Greenberg, Steven, Falcone, Guido, Biffi, Alessandro, Langefeld, Carl, Woo, Daniel, Rosand, Jonathan, Anderson, Christopher, National Institute of Neurological Disorders and Stroke (US), Neurocritical Care Society (US), American Heart Association, Medical Research Council (UK), Age UK, Centre for Cognitive Ageing and Cognitive Epidemiology (UK), Wellcome Trust, Binks Trust, Scottish Funding Council, Chief Scientist Office (UK), Swedish Heart-Lung Foundation, Skåne Regional Council, Skåne University Hospital, The Grand Lodge of Sweden, King Gustaf V and Queen Victoria's Foundation, Lund University, Foundation of Färs & Frosta, Swedish Stroke Association, Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Instituto de Salud Carlos III, and European Commission

Subjects
education, cardiovascular diseases, nervous system diseases
Abstract

[Importance] Genetic studies of intracerebral hemorrhage (ICH) have focused mainly on white participants, but genetic risk may vary or could be concealed by differing nongenetic coexposures in nonwhite populations. Transethnic analysis of risk may clarify the role of genetics in ICH risk across populations., [Objective] To evaluate associations between established differences in ICH risk by race/ethnicity and the variability in the risks of apolipoprotein E (APOE) ε4 alleles, the most potent genetic risk factor for ICH., [Design, Setting, and Participants] This case-control study of primary ICH meta-analyzed the association of APOE allele status on ICH risk, applying a 2-stage clustering approach based on race/ethnicity and stratified by a contributing study. A propensity score analysis was used to model the association of APOE with the burden of hypertension across race/ethnic groups. Primary ICH cases and controls were collected from 3 hospital- and population-based studies in the United States and 8 in European sites in the International Stroke Genetic Consortium. Participants were enrolled from January 1, 1999, to December 31, 2017. Participants with secondary causes of ICH were excluded from enrollment. Controls were regionally matched within each participating study., [Main Outcomes and Measures] Clinical variables were systematically obtained from structured interviews within each site. APOE genotype was centrally determined for all studies., [Results] In total, 13 124 participants (7153 [54.5%] male with a median [interquartile range] age of 66 [56-76] years) were included. In white participants, APOE ε2 (odds ratio [OR], 1.49; 95% CI, 1.24-1.80; P, [Conclusions and Relevance] APOE ε4 and ε2 alleles appear to affect lobar ICH risk variably by race/ethnicity, associations that are confirmed in white individuals but can be shown in Hispanic individuals only when the excess burden of hypertension is propensity score–matched; further studies are needed to explore the interactions between APOE alleles and environmental exposures that vary by race/ethnicity in representative populations at risk for ICH., This study was funded by grants K23NS086873, R01NS103924, U01NS069763, R01NS093870, R01AG047975, R01AG026484, P50AG005134, and K23AG02872605 from the NIH National Institute of Neurological Disorders and Stroke; a Yale Pepper Scholar Award (P30AG021342) and the Neurocritical Care Society Research Fellowship (Dr Falcone); an American Heart Association fellowship (18POST34080063) (Dr Marini); and a United Kingdom Medical Research Council/Stroke Association Clinical Research Training Fellowship and a United Kingdom Medical Research Council Senior Clinical Fellowship. The Lothian Birth Cohort 1936 is supported by Age UK (The Disconnected Mind project), the Medical Research Council (MR/M01311/1), and the Centre for Cognitive Ageing and Cognitive Epidemiology (which is funded by the Medical Research Council and the Biotechnology and Biological Sciences Research Council [MR/K026992/1]). The Edinburgh Stroke Study was supported by the Wellcome Trust and the Binks Trust. Sample processing occurred in the Genetics Core Laboratory of the Wellcome Trust Clinical Research Facility, Western General Hospital. Much of the neuroimaging occurred in the Scottish Funding Council Brain Imaging Research Centre, University of Edinburgh, a core area of the Wellcome Trust Clinical Research Facility and part of the Scottish Imaging Network–A Platform for Scientific Excellence collaboration (funded by the Scottish Funding Council and the Chief Scientist Office). Lund Stroke Register is supported by the Swedish Heart and Lung Foundation, Region Skåne, Skåne University Hospital, the Freemasons Lodge of Instruction EOS in Lund, King Gustaf V and Queen Victoria’s Foundation, Lund University, the Foundation of Färs & Frosta (one of Sparbanken Skåne’s ownership Foundations), and the Swedish Stroke Association. ICH case and control recruitment from Spain has been supported by the Spain Ministry of Health Instituto de Salud Carlos III FEDER RD16/0019/0002.INVICTUS-PLUS.

Published
2019

57. Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes

Author

Pulit, Sara L., Weng, Lu-Chen, McArdle, Patrick F, Trinquart, Ludovic, Choi, Seung Hoan, Mitchell, Braxton D., Rosand, Jonathan, de Bakker, Paul I W, Benjamin, Emelia J, Ellinor, Patrick T, Kittner, Steven J, Lubitz, Steven A, Anderson, Christopher D, Christophersen, Ingrid E., Rienstra, Michiel, Roselli, Carolina, Yin, Xiaoyan, Geelhoed, Bastiaan, Barnard, John, Lin, Honghuang, Arking, Dan E., Smith, Albert V., Albert, Christine M., Chaffin, Mark, Tucker, Nathan R., Li, Molong, Klarin, Derek, Bihlmeyer, Nathan A, Low, Siew-Kee, Weeke, Peter E., Müller-Nurasyid, Martina, Smith, J. Gustav, Brody, Jennifer A., Niemeijer, Maartje N., Dörr, Marcus, Trompet, Stella, Huffman, Jennifer, Gustafsson, Stefan, Schurmann, Claudia, Kleber, Marcus E., Lyytikäinen, Leo-Pekka, Seppälä, Ilkka, Malik, Rainer, Horimoto, Andrea R. V. R., Perez, Marco, Sinisalo, Juha, Aeschbacher, Stefanie, Thériault, Sébastien, Yao, Jie, Radmanesh, Farid, Weiss, Stefan, Teumer, Alexander, Clauss, Sebastian, Deo, Rajat, Rader, Daniel J., Shah, Svati, Siland, Joylene E., Kubo, Michiaki, Smith, Jonathan D., Van Wagoner, David R., Bis, Joshua C., Perz, Siegfried, Psaty, Bruce M., Ridker, Paul M., Magnani, Jared W., Harris, Tamara B., Launer, Lenore J., Shoemaker, M. Benjamin, Padmanabhan, Sandosh, Haessler, Jeffrey, Bartz, Traci M., Waldenberger, Melanie, Lichtner, Peter, Arendt, Marina, Krieger, Jose E., Kähönen, Mika, Risch, Lorenz, Mansur, Alfredo J., Peters, Annette, Smith, Blair H., Lind, Lars, Scott, Stuart A., Lu, Yingchang, Bottinger, Erwin B., Hernesniemi, Jussi, Lindgren, Cecilia M., Wong, Jorge A, Huang, Jie, Eskola, Markku, Morris, Andrew P., Ford, Ian, Reiner, Alex P., Delgado, Graciela, Chen, Lin Y., Chen, Yii-Der Ida, Sandhu, Roopinder K., Li, Man, Boerwinkle, Eric, Eisele, Lewin, Lannfelt, Lars, Rost, Natalia, Orho-Melander, arju, Hamsten, Anders, Heeringa, Jan, Denny, Joshua C., Kriebel, Jennifer, Darbar, Dawood, Newton-Cheh, Christopher, Shaffer, Christian, Macfarlane, Peter W., Heilmann, Stefanie, Almgren, Peter, Huang, Paul L., Sotoodehnia, Nona, Soliman, Elsayed Z., Uitterlinden, Andre G., Hofman, Albert, Franco, Oscar H., Völker, Uwe, Jöckel, Karl-Heinz, Sinner, Moritz F., Lin, Henry J., Guo, Xiuqing, Dichgans, Martin, Ingelsson, Erik, Kooperberg, Charles, Melander, Olle, Loos, Ruth J. F., Laurikka, Jari, Conen, David, Harst, Pim van der, Lokki, Marja-Liisa, Kathiresan, Sekar, Pereira, Alexandre, Jukema, J. Wouter, Hayward, Caroline, Rotter, Jerome I., März, Winfried, Lehtimäki, Terho, Stricker, Bruno H., Chung, Mina K., Felix, Stephan B., Gudnason, Vilmundur, Alonso, Alvaro, Roden, Dan M., Sun, Albert, Anderson, Christopher D., Kääb, Stefan, Hopewell, Jemma C., Debette, Stephanie, Chauhan, Ganesh, Yang, Qiong, Worrall, Bradford B., Paré, Guillaume, Kamatani, Yoichiro, Hagemeijer, Yanick P., Verweij, Niek, Taylor, Kent D., Campbell, Archie, Magnusson, Patrik K., Porteous, David, Hocking, Lynne J., Vlachopoulou, Efthymia, Pedersen, Nancy L., Nikus, Kjell, Chasman, Daniel I., Heckbert, Susan R., Benjamin, Emelia J., Tanaka, Toshihiro, Lunetta, Kathryn L., Lubitz, Steven A., Ellinor, Patrick T., Smoller, Sylvia, Sorkin, John, Wang, Xingwu, Selim, Magdy, Pikula, Aleksandra, Wolf, Philip, Seshadri, Sudha, Bakker, Paul de, Chasman, Daniel, Rexrode, Kathryn, Chen, Ida, Rotter, Jerome, Luke, May, Sale, Michelle, Lee, Tsong-Hai, Chang, Ku-Chou, Elkind, Mitchell, Goldstein, Larry, James, Michael Luke, Breteler, Monique, O’Donnell, Chris, Leys, Didier, Carty, Cara, Kidwell, Chelsea, Olesen, Jes, Sharma, Pankaj, Rich, Stephen, Tatlisumak, Turgot, Happola, Olli, Bijlenga, Philippe, Soriano, Carolina, Giralt, Eva, Roquer, Jaume, Jimenez-Conde, Jordi, Cotlarcius, Ioana, Hardy, John, Korostynski, Michal, Boncoraglio, Giorgio, Ballabio, Elena, Parati, Eugenio, Mateusz, Adamski, Urbanik, Andrzej, Dziedzic, Tomasz, Jagiella, Jeremiasz, Gasowski, Jerzy, Wnuk, Marcin, Olszanecki, Rafael, Pera, Joanna, Slowik, Agnieszka, Juchniewicz, Karol Jozef, Levi, Christopher, Nyquist, Paul, Cendes, Iscia, Cabral, Norberto, Franca, Paulo, Goncalves, Anderson, Keller, Lina, Crisby, Milita, Kostulas, Konstantinos, Lemmens, Robin, Ahmadi, Kourosh, Opherk, Christian, Duering, Marco, Gonik, Mariya, Staals, Julie, Burri, Philippe, Sadr-Nabavi, Ariane, Romero, Javier, Biffi, Alessandro, Anderson, Chris, Falcone, Guido, Brouwers, Bart, Du, Rose, Kourkoulis, Christina, Battey, Thomas, Lubitz, Steven, Mueller-Myhsok, Bertram, Meschia, James, Brott, Thomas, Pare, Guillaume, Pichler, Alexander, Enzinger, Christian, Schmidt, Helena, Schmidt, Reinhold, Seiler, Stephan, Blanton, Susan, Yamada, Yoshiji, Bersano, Anna, Rundek, Tatjana, Sacco, Ralph, Chan, Yu-Feng Yvonne, Gschwendtner, Andreas, Deng, Zhen, Barr, Taura, Gwinn, Katrina, Corriveau, Roderick, Singleton, Andrew, Waddy, Salina, Launer, Lenore, Chen, Christopher, Le, Kim En, Lee, Wei Ling, Tan, Eng King, Olugbodi, Akintomi, Rothwell, Peter, Schilling, Sabrina, Mok, Vincent, Lebedeva, Elena, Jern, Christina, Jood, Katarina, Olsson, Sandra, Kim, Helen, Lee, Chaeyoung, Kilarski, Laura, Markus, Hugh, Peycke, Jennifer, Bevan, Steve, Sheu, Wayne, Chiou, Hung Yi, Chern, Joseph, Giraldo, Elias, Taqi, Muhammad, Jain, Vivek, Lam, Olivia, Howard, George, Woo, Daniel, Kittner, Steven, Mitchell, Braxton, Cole, John, O’Connell, Jeff, Milewicz, Dianna, Illoh, Kachikwu, Worrall, Bradford, Stine, Colin, Karaszewski, Bartosz, Werring, David, Sofat, Reecha, Smalley, June, Lindgren, Arne, Hansen, Bjorn, Norrving, Bo, Smith, Gustav, Martin, Juan Jose, Thijs, Vincent, Klijn, Karin, van’t Hof, Femke, Algra, Ale, Macleod, Mary, Perry, Rodney, Arnett, Donna, Pezzini, Alessandro, Padovani, Alessandro, Cramer, Steve, Fisher, Mark, Saleheen, Danish, Broderick, Joseph, Kissela, Brett, Doney, Alex, Cathie, Sudlow, Rannikmae, Kristiina, Silliman, Scott, McDonough, Caitrin, Walters, Matthew, Pedersen, Annie, Nakagawa, Kazuma, Chang, Christy, Dobbins, Mark, McArdle, Patrick, Chang, Yu-Ching, Brown, Robert, Brown, Devin, Holliday, Elizabeth, Kalaria, Raj, Maguire, Jane, John, Attia, Farrall, Martin, Giese, Anne-Katrin, Fornage, Myriam, Majersik, Jennifer, Cushman, Mary, Keene, Keith, Bennett, Siiri, Tirschwell, David, Psaty, Bruce, Reiner, Alex, Longstreth, Will, Spence, David, Montaner, Joan, Fernandez-Cadenas, Israel, Langefeld, Carl, Bushnell, Cheryl, Heitsch, Laura, Lee, Jin-Moo, Sheth, Kevin, Cardiovascular Centre (CVC), Department of Medicine, Clinicum, Transplantation Laboratory, Medicum, Neurologian yksikkö, Department of Neurosciences, University of Helsinki, Doctoral Programme in Clinical Research, HUS Neurocenter, Epidemiology, Internal Medicine, Klinische Neurowetenschappen, RS: CARIM - R3.03 - Cerebral small vessel disease, and MUMC+: MA Med Staf Spec Neurologie (9)

Subjects
Medizin, 030204 cardiovascular system & hematology, VARIANTS, 3124 Neurology and psychiatry, 0302 clinical medicine, Epidemiology, Genotype, EPIDEMIOLOGY, Stroke, Genetics (clinical), 0303 health sciences, Aspirin, Atrial fibrillation, ASSOCIATION, 3. Good health, LIFETIME RISK, ISCHEMIC-STROKE, Cardiology, Biomarker (medicine), Medical genetics, BURDEN, Medical Genetics, Life Sciences & Biomedicine, medicine.drug, medicine.medical_specialty, Clinical Neurology, Single-nucleotide polymorphism, Article, 03 medical and health sciences, Internal medicine, Genetic predisposition, medicine, SNP, cardiovascular diseases, Genotyping, 030304 developmental biology, Genetic association, Medicinsk genetik, Science & Technology, business.industry, 3112 Neurosciences, Heritability, medicine.disease, PREVENTION, ASPIRIN, Neurology (clinical), Neurosciences & Neurology, business, 030217 neurology & neurosurgery, CAUSATIVE CLASSIFICATION
Abstract

ObjectiveWe sought to assess whether genetic risk factors for atrial fibrillation (AF) can explain cardioembolic stroke risk.MethodsWe evaluated genetic correlations between a previous genetic study of AF and AF in the presence of cardioembolic stroke using genome-wide genotypes from the Stroke Genetics Network (N = 3,190 AF cases, 3,000 cardioembolic stroke cases, and 28,026 referents). We tested whether a previously validated AF polygenic risk score (PRS) associated with cardioembolic and other stroke subtypes after accounting for AF clinical risk factors.ResultsWe observed a strong correlation between previously reported genetic risk for AF, AF in the presence of stroke, and cardioembolic stroke (Pearson r = 0.77 and 0.76, respectively, across SNPs with p < 4.4 × 10−4 in the previous AF meta-analysis). An AF PRS, adjusted for clinical AF risk factors, was associated with cardioembolic stroke (odds ratio [OR] per SD = 1.40, p = 1.45 × 10−48), explaining ∼20% of the heritable component of cardioembolic stroke risk. The AF PRS was also associated with stroke of undetermined cause (OR per SD = 1.07, p = 0.004), but no other primary stroke subtypes (all p > 0.1).ConclusionsGenetic risk of AF is associated with cardioembolic stroke, independent of clinical risk factors. Studies are warranted to determine whether AF genetic risk can serve as a biomarker for strokes caused by AF.

Published
2018

58. Subtype Specificity of Genetic Loci Associated With Stroke in 16 664 Cases and 32 792 Controls

Author

Traylor, M., Anderson, C.D., Rutten-Jacobs, L.C.A., Falcone, G.J., Comeau, M.E., Ay, H., Sudlow, C.L.M., Xu, H., Mitchell, B.D., Cole, J.W., Rexrode, K., Jimenez-Conde, Jordi, Schmidt, Reinhold, Grewal, R.P., Sacco, Ralph L, Ribases, Marta, Rundek, T., Rosand, J., Dichgans, Martin., Lee, J.M., Langefeld, C.D., Kittner, S.J., Markus, H.S., Woo, D., Malik, R., Universitat Autònoma de Barcelona, Traylor, M., Anderson, C.D., Rutten-Jacobs, L.C.A., Falcone, G.J., Comeau, M.E., Ay, H., Sudlow, C.L.M., Xu, H., Mitchell, B.D., Cole, J.W., Rexrode, K., Jimenez-Conde, Jordi, Schmidt, Reinhold, Grewal, R.P., Sacco, Ralph L, Ribases, Marta, Rundek, T., Rosand, J., Dichgans, Martin., Lee, J.M., Langefeld, C.D., Kittner, S.J., Markus, H.S., Woo, D., Malik, R., and Universitat Autònoma de Barcelona

Abstract

Background: Genome-wide association studies have identified multiple loci associated with stroke. However, the specific stroke subtypes affected, and whether loci influence both ischemic and hemorrhagic stroke, remains unknown. For loci associated with stroke, we aimed to infer the combination of stroke subtypes likely to be affected, and in doing so assess the extent to which such loci have homogeneous effects across stroke subtypes. Methods: We performed Bayesian multinomial regression in 16 664 stroke cases and 32 792 controls of European ancestry to determine the most likely combination of stroke subtypes affected for loci with published genome-wide stroke associations, using model selection. Cases were subtyped under 2 commonly used stroke classification systems, TOAST (Trial of Org 10172 Acute Stroke Treatment) and causative classification of stroke. All individuals had genotypes imputed to the Haplotype Reference Consortium 1.1 Panel. Results: Sixteen loci were considered for analysis. Seven loci influenced both hemorrhagic and ischemic stroke, 3 of which influenced ischemic and hemorrhagic subtypes under both TOAST and causative classification of stroke. Under causative classification of stroke, 4 loci influenced both small vessel stroke and intracerebral hemorrhage. An EDNRA locus demonstrated opposing effects on ischemic and hemorrhagic stroke. No loci were predicted to influence all stroke subtypes in the same direction, and only one locus (12q24) was predicted to influence all ischemic stroke subtypes. Conclusions: Heterogeneity in the influence of stroke-associated loci on stroke subtypes is pervasive, reflecting differing causal pathways. However, overlap exists between hemorrhagic and ischemic stroke, which may reflect shared pathobiology predisposing to small vessel arteriopathy. Stroke is a complex, heterogeneous disorder requiring tailored analytic strategies to decipher genetic mechanisms.

Published
2019

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

Author

Chauhan Ganesh, Adams Hieab H. H., Satizabal Claudia L., Bis Joshua C., Teumer Alexander, Sargurupremraj Muralidharan, Hofer Edith, Trompet Stella, Hilal Saima, Smith Albert Vernon, Jian Xueqiu, Malik Rainer, Traylor Matthew, Pulit Sara L., Amouyel Philippe, Mazoyer Bernard, Zhu Yi-Cheng, Kaffashian Sara, Schilling Sabrina, Beecham Gary W., Montine Thomas J., Schellenberg Gerard D., Kjartansson Olafur, Gudnason 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., Hernandez Maria del C. Valdes, Luciano Michelle, Liewald David, Deary Ian J., Starr John M., Bastin Mark E., Maniega Susana Munoz, 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 Andre G., van der Lugt Aad, Wittfeld Katharina, Grabe Hans J., Hosten Norbert, von Sarnowski Bettina, Voelker Uwe, Levi Christopher, Jimenez-Conde Jordi, Sharma Pankaj, Sudlow Cathie L. M., Rosand Jonathan, Woo Daniel, Cole John W., Meschia James F., Slowik Agnieszka, Thijs Vincent, Lindgren Arne, Melander Olle, Grewal Raji P., Rundek Tatjana, Rexrode Kathy, Rothwell Peter M., Arnett Donna K., Jern Christina, Johnson Julie A., Benavente Oscar R., Wasssertheil-Smoller Sylvia, Lee Jin-Moo, Wong Quenna, Mitchell Braxton D., Rich Stephen S., McArdle Patrick F., Geerlings Mirjam I., van der Graaf Yolanda, de Bakker Paul I. W., Asselbergs Folkert W., Srikanth Velandai, Thomson Russell, McWhirter Rebekah, Moran Chris, Callisaya Michele, Thanh Phan, Rutten-Jacobs Loes C. A., Bevan Steve, Tzourio Christophe, Mather Karen A., Sachdev Perminder S., van Duijn Cornelia M., Worrall Bradford B., Dichgans Martin, Kittner Steven J., Markus Hugh S., Ikram Mohammad A., Fornage Myriam, Launer Lenore J., Seshadri Sudha, Longstreth W. T. Jr., Debette Stephanie, Chauhan Ganesh, Adams Hieab H. H., Satizabal Claudia L., Bis Joshua C., Teumer Alexander, Sargurupremraj Muralidharan, Hofer Edith, Trompet Stella, Hilal Saima, Smith Albert Vernon, Jian Xueqiu, Malik Rainer, Traylor Matthew, Pulit Sara L., Amouyel Philippe, Mazoyer Bernard, Zhu Yi-Cheng, Kaffashian Sara, Schilling Sabrina, Beecham Gary W., Montine Thomas J., Schellenberg Gerard D., Kjartansson Olafur, Gudnason 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., Hernandez Maria del C. Valdes, Luciano Michelle, Liewald David, Deary Ian J., Starr John M., Bastin Mark E., Maniega Susana Munoz, 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 Andre G., van der Lugt Aad, Wittfeld Katharina, Grabe Hans J., Hosten Norbert, von Sarnowski Bettina, Voelker Uwe, Levi Christopher, Jimenez-Conde Jordi, Sharma Pankaj, Sudlow Cathie L. M., Rosand Jonathan, Woo Daniel, Cole John W., Meschia James F., Slowik Agnieszka, Thijs Vincent, Lindgren Arne, Melander Olle, Grewal Raji P., Rundek Tatjana, Rexrode Kathy, Rothwell Peter M., Arnett Donna K., Jern Christina, Johnson Julie A., Benavente Oscar R., Wasssertheil-Smoller Sylvia, Lee Jin-Moo, Wong Quenna, Mitchell Braxton D., Rich Stephen S., McArdle Patrick F., Geerlings Mirjam I., van der Graaf Yolanda, de Bakker Paul I. W., Asselbergs Folkert W., Srikanth Velandai, Thomson Russell, McWhirter Rebekah, Moran Chris, Callisaya Michele, Thanh Phan, Rutten-Jacobs Loes C. A., Bevan Steve, Tzourio Christophe, Mather Karen A., Sachdev Perminder S., van Duijn Cornelia M., Worrall Bradford B., Dichgans Martin, Kittner Steven J., Markus Hugh S., Ikram Mohammad A., Fornage Myriam, Launer Lenore J., Seshadri Sudha, Longstreth W. T. Jr., and Debette Stephanie

Published
2019

60. Top research priorities for stroke genetics

Author

Woo, Daniel, Anderson, Christopher D, Maguire, Jane, Fornage, Myriam, Lee, Jin-Moo, Seshadri, Sudha, Markus, Hugh S, Majersik, Jennifer J, Jimenez-Conde, Jordi, Crawford, Katherine, Lindgren, Arne G, and Debette, Stephanie

Published
2018
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61. Genome-wide association study of cerebral small vessel disease reveals established and novel loci

Author

Chung, Jaeyoon, primary, Marini, Sandro, additional, Pera, Joanna, additional, Norrving, Bo, additional, Jimenez-Conde, Jordi, additional, Roquer, Jaume, additional, Fernandez-Cadenas, Israel, additional, Tirschwell, David L, additional, Selim, Magdy, additional, Brown, Devin L, additional, Silliman, Scott L, additional, Worrall, Bradford B, additional, Meschia, James F, additional, Demel, Stacie, additional, Greenberg, Steven M, additional, Slowik, Agnieszka, additional, Lindgren, Arne, additional, Schmidt, Reinhold, additional, Traylor, Matthew, additional, Sargurupremraj, Muralidharan, additional, Tiedt, Steffen, additional, Malik, Rainer, additional, Debette, Stéphanie, additional, Dichgans, Martin, additional, Langefeld, Carl D, additional, Woo, Daniel, additional, Rosand, Jonathan, additional, and Anderson, Christopher D, additional

Published
2019
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63. Genome-wide association meta-analysis of functional outcome after ischemic stroke

Author

Söderholm, Martin, primary, Pedersen, Annie, additional, Lorentzen, Erik, additional, Stanne, Tara M., additional, Bevan, Steve, additional, Olsson, Maja, additional, Cole, John W., additional, Fernandez-Cadenas, Israel, additional, Hankey, Graeme J., additional, Jimenez-Conde, Jordi, additional, Jood, Katarina, additional, Lee, Jin-Moo, additional, Lemmens, Robin, additional, Levi, Christopher, additional, Mitchell, Braxton D., additional, Norrving, Bo, additional, Rannikmäe, Kristiina, additional, Rost, Natalia S., additional, Rosand, Jonathan, additional, Rothwell, Peter M., additional, Scott, Rodney, additional, Strbian, Daniel, additional, Sturm, Jonathan W., additional, Sudlow, Cathie, additional, Traylor, Matthew, additional, Thijs, Vincent, additional, Tatlisumak, Turgut, additional, Woo, Daniel, additional, Worrall, Bradford B., additional, Maguire, Jane M., additional, Lindgren, Arne, additional, and Jern, Christina, additional

Published
2019
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64. Abstract TP423: Risk Factors for Intracranial Hemorrhage in Cerebral Venous Thrombosis

Author

Afifi, Khaled, primary, Bellanger, Guillaume, additional, Zuurbier, Yvonne, additional, Garcia Esperon, Carlos, additional, Barboza, Miguel, additional, Buyck, Pieter-Jan, additional, Costa, Paolo, additional, Escudero, Irene, additional, Renard, Dimitri, additional, Lemmens, Robin, additional, Hinteregger, Nicole, additional, Fazekas, Franz, additional, Jimenez Conde, Jordi, additional, Giralt-Steinhauer, Eva, additional, Hiltunen, Sini, additional, Pezzini, Alessandro, additional, Montaner, Joan, additional, Weimar, Christian, additional, Churilov, Leonid, additional, Gattringer, Thomas, additional, Asadi, Hamed, additional, Tatlisumak, Turgut, additional, Coutinho, Jonathan, additional, Demaerel, Philippe, additional, and Thijs, Vincent, additional

Published
2019
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65. White matter hyperintensity quantification in large-scale clinical acute ischemic stroke cohorts – The MRI-GENIE study

Author

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

Published
2019
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66. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Author

Malik, Rainer, Chauhan, Ganesh, Traylor, Matthew, Sargurupremraj, Muralidharan, Okada, Yukinori, Mishra, Aniket, Rutten-Jacobs, Loes, Giese, Anne-Katrin, van der Laan, Sander W., Gretarsdottir, Solveig, Anderson, Christopher D., Chong, Michael, Adams, Hieab H. H., Ago, Tetsuro, Almgren, Peter, Amouyel, Philippe, Ay, Hakan, Bartz, Traci M., Benavente, Oscar R., Bevan, Steve, Boncoraglio, Giorgio B., Brown, Robert D., Jr., Butterworth, Adam S., Carrera, Caty, Carty, Cara L., Chasman, Daniel I., Chen, Wei-Min, Cole, John W., Correa, Adolfo, Cotlarciuc, Ioana, Cruchaga, Carlos, Danesh, John, de Bakker, Paul I. W., DeStefano, Anita L., den Hoed, Marcel, Duan, Qing, Engelter, Stefan T., Falcone, Guido J., Gottesman, Rebecca F., Grewal, Raji P., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeffrey, Harris, Tamara B., Hassan, Ahamad, Havulinna, Aki S., Heckbert, Susan R., Holliday, Elizabeth G., Howard, George, Hsu, Fang-Chi, Hyacinth, Hyacinth I., Ikram, M. Arfan, Ingelsson, Erik, Irvin, Marguerite R., Jian, Xueqiu, Jimenez-Conde, Jordi, Johnson, Julie A., Jukema, J. Wouter, Kanai, Masahiro, Keene, Keith L., Kissela, Brett M., Kleindorfer, Dawn O., Kooperberg, Charles, Kubo, Michiaki, Lange, Leslie A., Langefeld, Carl D., Langenberg, Claudia, Launer, Lenore J., Lee, Jin-Moo, Lemmens, Robin, Leys, Didier, Lewis, Cathryn M., Lin, Wei-Yu, Lindgren, Arne G., Lorentzen, Erik, Magnusson, Patrik K., Maguire, Jane, Manichaikul, Ani, McArdle, Patrick F., Meschia, James F., Mitchell, Braxton D., Mosley, Thomas H., Nalls, Michael A., Ninomiya, Toshiharu, O'Donnell, Martin J., Psaty, Bruce M., Pulit, Sara L., Rannikmae, Kristiina, Reiner, Alexander P., Rexrode, Kathryn M., Rice, Kenneth, Rich, Stephen S., Ridker, Paul M., Rost, Natalia S., Rothwell, Peter M., Rotter, Jerome I., Rundek, Tatjana, Sacco, Ralph L., Sakaue, Saori, Sale, Michele M., Salomaa, Veikko, Sapkota, Bishwa R., Schmidt, Reinhold, Schmidt, Carsten O., Schminke, Ulf, Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L. M., Tanislav, Christian, Tatlisumak, Turgut, Taylor, Kent D., Thijs, Vincent N. S., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiedt, Steffen, Trompet, Stella, Tzourio, Christophe, van Duijn, Cornelia M., Walters, Matthew, Wareham, Nicholas J., Wassertheil-Smoller, Sylvia, Wilson, James G., Wiggins, Kerri L., Yang, Qiong, Yusuf, Salim, Bis, Joshua C., Pastinen, Tomi, Ruusalepp, Arno, Schadt, Eric E., Koplev, Simon, Bjorkegren, Johan L. M., Codoni, Veronica, Civelek, Mete, Smith, Nicholas L., Tregouet, David A., Christophersen, Ingrid E., Roselli, Carolina, Lubitz, Steven A., Ellinor, Patrick T., Tai, E. Shyong, Kooner, Jaspal S., Kato, Norihiro, He, Jiang, van der Harst, Pim, Elliott, Paul, Chambers, John C., Takeuchi, Fumihiko, Johnson, Andrew D., Sanghera, Dharambir K., Melander, Olle, Jern, Christina, Strbian, Daniel, Fernandez-Cadenas, Israel, Longstreth, W. T., Jr., Rolfs, Arndt, Hata, Jun, Woo, Daniel, Rosand, Jonathan, Pare, Guillaume, Hopewell, Jemma C., Ingelsson, Martin, Saleheen, Danish, Stefansson, Kari, Worrall, Bradford B., Kittner, Steven J., Seshadri, Sudha, Fornage, Myriam, Lind, Lars, Markus, Hugh S., Howson, Joanna M. M., Kamatani, Yoichiro, Debette, Stephanie, Dichgans, Martin, Malik, Rainer, Chauhan, Ganesh, Traylor, Matthew, Sargurupremraj, Muralidharan, Okada, Yukinori, Mishra, Aniket, Rutten-Jacobs, Loes, Giese, Anne-Katrin, van der Laan, Sander W., Gretarsdottir, Solveig, Anderson, Christopher D., Chong, Michael, Adams, Hieab H. H., Ago, Tetsuro, Almgren, Peter, Amouyel, Philippe, Ay, Hakan, Bartz, Traci M., Benavente, Oscar R., Bevan, Steve, Boncoraglio, Giorgio B., Brown, Robert D., Jr., Butterworth, Adam S., Carrera, Caty, Carty, Cara L., Chasman, Daniel I., Chen, Wei-Min, Cole, John W., Correa, Adolfo, Cotlarciuc, Ioana, Cruchaga, Carlos, Danesh, John, de Bakker, Paul I. W., DeStefano, Anita L., den Hoed, Marcel, Duan, Qing, Engelter, Stefan T., Falcone, Guido J., Gottesman, Rebecca F., Grewal, Raji P., Gudnason, Vilmundur, Gustafsson, Stefan, Haessler, Jeffrey, Harris, Tamara B., Hassan, Ahamad, Havulinna, Aki S., Heckbert, Susan R., Holliday, Elizabeth G., Howard, George, Hsu, Fang-Chi, Hyacinth, Hyacinth I., Ikram, M. Arfan, Ingelsson, Erik, Irvin, Marguerite R., Jian, Xueqiu, Jimenez-Conde, Jordi, Johnson, Julie A., Jukema, J. Wouter, Kanai, Masahiro, Keene, Keith L., Kissela, Brett M., Kleindorfer, Dawn O., Kooperberg, Charles, Kubo, Michiaki, Lange, Leslie A., Langefeld, Carl D., Langenberg, Claudia, Launer, Lenore J., Lee, Jin-Moo, Lemmens, Robin, Leys, Didier, Lewis, Cathryn M., Lin, Wei-Yu, Lindgren, Arne G., Lorentzen, Erik, Magnusson, Patrik K., Maguire, Jane, Manichaikul, Ani, McArdle, Patrick F., Meschia, James F., Mitchell, Braxton D., Mosley, Thomas H., Nalls, Michael A., Ninomiya, Toshiharu, O'Donnell, Martin J., Psaty, Bruce M., Pulit, Sara L., Rannikmae, Kristiina, Reiner, Alexander P., Rexrode, Kathryn M., Rice, Kenneth, Rich, Stephen S., Ridker, Paul M., Rost, Natalia S., Rothwell, Peter M., Rotter, Jerome I., Rundek, Tatjana, Sacco, Ralph L., Sakaue, Saori, Sale, Michele M., Salomaa, Veikko, Sapkota, Bishwa R., Schmidt, Reinhold, Schmidt, Carsten O., Schminke, Ulf, Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L. M., Tanislav, Christian, Tatlisumak, Turgut, Taylor, Kent D., Thijs, Vincent N. S., Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tiedt, Steffen, Trompet, Stella, Tzourio, Christophe, van Duijn, Cornelia M., Walters, Matthew, Wareham, Nicholas J., Wassertheil-Smoller, Sylvia, Wilson, James G., Wiggins, Kerri L., Yang, Qiong, Yusuf, Salim, Bis, Joshua C., Pastinen, Tomi, Ruusalepp, Arno, Schadt, Eric E., Koplev, Simon, Bjorkegren, Johan L. M., Codoni, Veronica, Civelek, Mete, Smith, Nicholas L., Tregouet, David A., Christophersen, Ingrid E., Roselli, Carolina, Lubitz, Steven A., Ellinor, Patrick T., Tai, E. Shyong, Kooner, Jaspal S., Kato, Norihiro, He, Jiang, van der Harst, Pim, Elliott, Paul, Chambers, John C., Takeuchi, Fumihiko, Johnson, Andrew D., Sanghera, Dharambir K., Melander, Olle, Jern, Christina, Strbian, Daniel, Fernandez-Cadenas, Israel, Longstreth, W. T., Jr., Rolfs, Arndt, Hata, Jun, Woo, Daniel, Rosand, Jonathan, Pare, Guillaume, Hopewell, Jemma C., Ingelsson, Martin, Saleheen, Danish, Stefansson, Kari, Worrall, Bradford B., Kittner, Steven J., Seshadri, Sudha, Fornage, Myriam, Lind, Lars, Markus, Hugh S., Howson, Joanna M. M., Kamatani, Yoichiro, Debette, Stephanie, and Dichgans, Martin

Abstract

Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown. We conducted a multiancestry genome-wide-association meta-analysis in 521,612 individuals (67,162 cases and 454,450 controls) and discovered 22 new stroke risk loci, bringing the total to 32. We further found shared genetic variation with related vascular traits, including blood pressure, cardiac traits, and venous thromboembolism, at individual loci (n = 18), and using genetic risk scores and linkage-disequilibrium-score regression. Several loci exhibited distinct association and pleiotropy patterns for etiological stroke sub-types. Eleven new susceptibility loci indicate mechanisms not previously implicated in stroke pathophysiology, with prioritization of risk variants and genes accomplished through bioinformatics analyses using extensive functional datasets. Stroke risk loci were significantly enriched in drug targets for antithrombotic therapy.

Published
2018
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67. Meta-analyses among 21,500 cases and 40,600 controls

Author

Rannikmae, 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, O'Donnell, Martin, Paré, Guillaume, Radmanesh, Farid, Rost, Natalia S., Słowik, Agnieszka, Soderholm, 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

68. Genetic Variation at 16q24.2 is associated with small vessel stroke:16q24.2 and 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, Wt, Ikram, M. Arfan, Launer, Lenore J., Seshadri, Sudha, 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, Catherine, 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.

Abstract

Objective: Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises a quarter of all ischaemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neurological traits have shown younger onset cases have an increased genetic burden. We leveraged this increased genetic burden by performing an age-at-onset informed GWAS meta-analysis, including a large younger onset SVS population, to identify novel associations with stroke.Methods: We used a three-stage age-at-onset informed GWAS to identify novel genetic variants associated with stroke. On identifying a novel locus associated with SVS, we assessed its influence on other small vessel disease phenotypes, as well as on mRNA expression of nearby genes, and on DNA methylation of nearby CpG sites in whole blood and in the fetal brain.Results: We identified an association with SVS in 4,203 cases and 50,728 controls on chromosome 16q24.2 (OR(95% CI)=1.16(1.10-1.22); p=3.2x10−9). The lead SNP (rs12445022) was also associated with cerebral white matter hyperintensities (OR(95% CI)=1.10(1.05-1.16); p=5.3x10−5; N=3,670), but not intracerebral haemorrhage (OR(95% CI)=0.97(0.84-1.12); p=0.71; 1,545 cases, 1,481 controls). rs12445022 is associated with mRNA expression of ZCCHC14 in arterial tissues (p=9.4x10−7), and DNA methylation at probe cg16596957 in whole blood (p=5.3x10−6).Interpretation: 16q24.2 is associated with SVS. Associations of the locus with expression of ZCCHC14 and DNA methylation suggest the locus acts through changes to regulatory elements. This article is protected by copyright. All rights reserved.

Published
2016

69. Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.

Author

Falcone, Guido J., Kirsch, Elayna, Acosta, Julian N., Noche, Rommell B., Leasure, Audrey, Marini, Sandro, Chung, Jaeyoon, Selim, Magdy, Meschia, James F., Brown, Devin L., Worrall, Bradford B., Tirschwell, David L., Jagiella, Jeremiasz M., Schmidt, Helena, Jimenez‐Conde, Jordi, Fernandez‐Cadenas, Israel, Lindgren, Arne, Slowik, Agnieszka, Gill, Dipender, and Holmes, Michael

Subjects
CEREBRAL hemorrhage, LOW density lipoproteins, SINGLE nucleotide polymorphisms, HIGH density lipoproteins, INVERSE relationships (Mathematics), COMPARATIVE studies, DISEASE susceptibility, GENETIC polymorphisms, RESEARCH methodology, MEDICAL cooperation, RESEARCH, TRIGLYCERIDES, EVALUATION research, SEQUENCE analysis
Abstract

Objective: Observational studies point to an inverse correlation between low-density lipoprotein (LDL) cholesterol levels and risk of intracerebral hemorrhage (ICH), but it remains unclear whether this association is causal. We tested the hypothesis that genetically elevated LDL is associated with reduced risk of ICH.Methods: We constructed one polygenic risk score (PRS) per lipid trait (total cholesterol, LDL, high-density lipoprotein [HDL], and triglycerides) using independent genomewide significant single nucleotide polymorphisms (SNPs) for each trait. We used data from 316,428 individuals enrolled in the UK Biobank to estimate the effect of each PRS on its corresponding trait, and data from 1,286 ICH cases and 1,261 matched controls to estimate the effect of each PRS on ICH risk. We used these estimates to conduct Mendelian Randomization (MR) analyses.Results: We identified 410, 339, 393, and 317 lipid-related SNPs for total cholesterol, LDL, HDL, and triglycerides, respectively. All four PRSs were strongly associated with their corresponding trait (all p < 1.00 × 10-100 ). While one SD increase in the PRSs for total cholesterol (odds ratio [OR] = 0.92; 95% confidence interval [CI] = 0.85-0.99; p = 0.03) and LDL cholesterol (OR = 0.88; 95% CI = 0.81-0.95; p = 0.002) were inversely associated with ICH risk, no significant associations were found for HDL and triglycerides (both p > 0.05). MR analyses indicated that 1mmol/L (38.67mg/dL) increase of genetically instrumented total and LDL cholesterol were associated with 23% (OR = 0.77; 95% CI = 0.65-0.98; p = 0.03) and 41% lower risks of ICH (OR = 0.59; 95% CI = 0.42-0.82; p = 0.002), respectively.Interpretation: Genetically elevated LDL levels were associated with lower risk of ICH, providing support for a potential causal role of LDL cholesterol in ICH. ANN NEUROL 2020 ANN NEUROL 2020;88:56-66. [ABSTRACT FROM AUTHOR]

Published
2020
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70. Genome-Wide Association Study of Hematoma Volume Identifies 17p12 as a Novel Susceptibility Locus for Severity and Outcome in Intracerebral Hemorrhage (S1.002)

Author

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

Published
2018
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71. Abstract WMP56: Genetics of Acute Ischemic Lesion Volume: the MRI-Genetics Interface Exploration (MRI-GENIE) Study

Author

Giese, Anne-Katrin, primary, Xu, Huichun, additional, Schirmer, Markus D, additional, Donahue, Kathleen L, additional, Dalca, Adrian V, additional, Gaynor, Brady J, additional, Cole, John W, additional, McArdle, Patrick F, additional, Broderick, Joseph P, additional, Jimenez-Conde, Jordi, additional, Jern, Christina, additional, Kissela, Brett M, additional, Kleindorfer, Dawn O, additional, Lemmens, Robin, additional, Lindgren, Arne, additional, Rundek, Tatjana, additional, Sacco, Ralph L, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Woo, Daniel, additional, Worrall, Bradford B, additional, Kittner, Steven J, additional, Meschia, James F, additional, Rosand, Jonathan, additional, Golland, Polina, additional, Mitchell, Braxton D, additional, Wu, Ona, additional, and Rost, Natalia S, additional

Published
2018
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72. Genetic Variants in CETP Increase Risk of Intracerebral Hemorrhage

Author

Anderson, Christopher D., Falcone, Guido J., Phuah, Chia-Ling, Radmanesh, Farid, Bart Brouwers, H., Battey, Thomas W. K., Biffi, Alessandro, Peloso, Gina M., Liu, Dajiang J., Ayres, Alison M., Goldstein, Joshua N., Viswanathan, Anand, Greenberg, Steven M., Selim, Magdy, Meschia, James F., Brown, Devin L., Worrall, Bradford B., Silliman, Scott L., Tirschwell, David L., Flaherty, Matthew L., Kraft, Peter, Jagiella, Jeremiasz M., Schmidt, Helena, Hansen, Björn M., Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano, Carolina, Van Nieuwenhuizen, Koen M., Klijn, Catharina J.M., Rannikmae, Kristiina, Samarasekera, Neshika, Al-Shahi Salman, Rustam, Sudlow, Catherine L., Deary, Ian J., Morotti, Andrea, Pezzini, Alessandro, Pera, Joanna, Urbanik, Andrzej, Pichler, Alexander, Enzinger, Christian, Norrving, Bo, Montaner, Joan, Fernandez-Cadenas, Israel, Delgado, Pilar, Roquer, Jaume, Lindgren, Arne, Slowik, Agnieszka, and Schmidt, Reinhold

Subjects
lipids (amino acids, peptides, and proteins)
Abstract

Objective: In observational epidemiologic studies, higher plasma high‐density lipoprotein cholesterol (HDL‐C) has been associated with increased risk of intracerebral hemorrhage (ICH). DNA sequence variants that decrease cholesteryl ester transfer protein (CETP) gene activity increase plasma HDL‐C; as such, medicines that inhibit CETP and raise HDL‐C are in clinical development. Here, we test the hypothesis that CETP DNA sequence variants associated with higher HDL‐C also increase risk for ICH.Methods: We performed 2 candidate‐gene analyses of CETP. First, we tested individual CETP variants in a discovery cohort of 1,149 ICH cases and 1,238 controls from 3 studies, followed by replication in 1,625 cases and 1,845 controls from 5 studies. Second, we constructed a genetic risk score comprised of 7 independent variants at the CETP locus and tested this score for association with HDL‐C as well as ICH risk.Results: Twelve variants within CETP demonstrated nominal association with ICH, with the strongest association at the rs173539 locus (odds ratio [OR] = 1.25, standard error [SE] = 0.06, p = 6.0 × 10−4) with no heterogeneity across studies (I2 = 0%). This association was replicated in patients of European ancestry (p = 0.03). A genetic score of CETP variants found to increase HDL‐C by ∼2.85mg/dl in the Global Lipids Genetics Consortium was strongly associated with ICH risk (OR = 1.86, SE = 0.13, p = 1.39 × 10−6).Interpretation: Genetic variants in CETP associated with increased HDL‐C raise the risk of ICH. Given ongoing therapeutic development in CETP inhibition and other HDL‐raising strategies, further exploration of potential adverse cerebrovascular outcomes may be warranted.

Published
2016

73. GISCOME – Genetics of Ischaemic Stroke Functional Outcome network: A protocol for an international multicentre genetic association study

Author

Maguire, Jane M, primary, Bevan, Steve, additional, Stanne, Tara M, additional, Lorenzen, Erik, additional, Fernandez-Cadenas, Israel, additional, Hankey, Graeme J, additional, Jimenez-Conde, Jordi, additional, Jood, Katarina, additional, Lee, Jin-Moo, additional, Lemmens, Robin, additional, Levi, Christopher, additional, Norrving, Bo, additional, Rannikmae, Kristiina, additional, Rost, Natalia, additional, Rosand, Jonathan, additional, Rothwell, Peter M, additional, Scott, Rodney, additional, Strbian, Daniel, additional, Sturm, Jonathan, additional, Sudlow, Cathie, additional, Traylor, Matthew, additional, Thijs, Vincent, additional, Tatlisumak, Turgut, additional, Wieloch, Tadeusz, additional, Woo, Daniel, additional, Worrall, Bradford B, additional, Jern, Christina, additional, and Lindgren, Arne, additional

Published
2017
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74. Fully automated pipeline for white matter hyperintensity segmentation using clinical scans in patients with acute ischemic stroke (S19.001)

Author

Schirmer, Markus D, primary, Dalca, Adrian V, additional, Sridharan, Ramesh, additional, Giese, Anne-Katrin, additional, Broderick, Joseph, additional, Jimenez-Conde, Jordi, additional, Holmegaard, Lukas, additional, Kissela, Brett, additional, Kleindorfer, Dawn, additional, Lemmens, Robin, additional, Lindgren, Arne, additional, Meschia, James, additional, Rundek, Tatjana, additional, Sacco, Ralph, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Woo, Daniel, additional, Worrall, Bradford, additional, Kittner, Steven, additional, Rosand, Jonathan, additional, Wu, Ona, additional, Golland, Polina, additional, and Rost, Natalia, additional

Published
2017
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76. Abstract TMP58: Determinants of White Matter Hyperintensity in Acute Ischemic Stroke Patients: The MRI-GENIE Study

Author

Giese, Anne-Katrin, primary, Schirmer, Markus D, additional, Dalca, Adrian V, additional, Sridharan, Ramesh, additional, Cloonan, Lisa, additional, Xu, Huichun, additional, Cole, John W, additional, McArdle, Patrick F, additional, Broderick, Joseph P, additional, Jimenez-Conde, Jordi, additional, Jern, Christina, additional, Kissela, Brett M, additional, Kleindorfer, Dawn O, additional, Lemmens, Robin, additional, Lindgren, Arne, additional, Meschia, James F, additional, Rundek, Tatjana, additional, Sacco, Ralph L, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Woo, Daniel, additional, Worrall, Bradford B, additional, Wu, Ona, additional, Kittner, Steven J, additional, Mitchell, Braxton D, additional, Rosand, Jonathan, additional, Golland, Polina, additional, and Rost, Natalia S, additional

Published
2017
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77. Abstract WP204: Genetic Variant in VCAM1 Mediates Acute Infarct Size in Ischemic Stroke Patients

Author

Giese, Anne-Katrin, primary, Musolino, Patricia, additional, Xu, Huichun, additional, Ryan, Kathleen, additional, Schirmer, Markus D, additional, Dalca, Adrian V, additional, Cole, John W, additional, McArdle, Patrick F, additional, Broderick, Joseph P, additional, Jimenez-Conde, Jordi, additional, Jern, Christina, additional, Kissela, Brett M, additional, Kleindorfer, Dawn O, additional, Lemmens, Robin, additional, Lindgren, Arne, additional, Meschia, James F, additional, Rundek, Tatjana, additional, Sacco, Ralph L, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Woo, Daniel, additional, Worrall, Bradford B, additional, Golland, Polina, additional, Kittner, Steven J, additional, Rosand, Jonathan, additional, Mitchell, Braxton D, additional, Wu, Ona, additional, and Rost, Natalia S, additional

Published
2017
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79. Abstract WP205: Pipeline for Automated White Matter Hyperintensity Segmentation in Patients With Acute Ischemic Stroke: The MRI-GENIE Study

Author

Schirmer, Markus D, primary, Dalca, Adrian V, additional, Sridharan, Ramesh, additional, Giese, Anne-Katrin, additional, Broderick, Joseph P, additional, Jimenez-Conde, Jordi, additional, Holmegaard, Lukas, additional, Kissela, Brett M, additional, Kleindorfer, Dawn O, additional, Lemmens, Robin, additional, Lindgren, Arne, additional, Meschia, James F, additional, Rundek, Tatjana, additional, Sacco, Ralph L, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Woo, Daniel, additional, Worrall, Bradford B, additional, Kittner, Steven J, additional, Rosand, Jonathan, additional, Wu, Ona, additional, Golland, Polina, additional, and Rost, Natalia S, additional

Published
2017
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80. Abstract 136: Genetics of White Matter Hyperintensity Burden in Patients With Ischemic Stroke: The MRI-GENIE Study

Author

Giese, Anne-Katrin, primary, Xu, Huichun, additional, Ryan, Kathleen, additional, Schirmer, Markus D, additional, Dalca, Adrian V, additional, Dave, Tushar, additional, Cole, John W, additional, McArdle, Patrick F, additional, Broderick, Joseph P, additional, Jimenez-Conde, Jordi, additional, Jern, Christina, additional, Kissela, Brett M, additional, Kleindorfer, Dawn O, additional, Lemmens, Robin, additional, Lindgren, Arne, additional, Meschia, James F, additional, Rundek, Tatjana, additional, Sacco, Ralph L, additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Thijs, Vincent, additional, Woo, Daniel, additional, Worrall, Bradford B, additional, Wu, Ona, additional, Kittner, Steven J, additional, Golland, Polina, additional, Rosand, Jonathan, additional, Mitchell, Braxton D, additional, and Rost, Natalia S, additional

Published
2017
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81. Validation of a clinical-genetics score to predict hemorrhagic transformations after rtPA.

Author

Carrera, Caty MSc, Cullell, Natalia MSc, Torres-Aguila, Nuria MSc, Muino, Elena MD, MSc, Bustamante, Alejandro MD, PhD, Davalos, Antonio MD, PhD, Lopez-Cancio, Elena MD, PhD, Ribo, Marc MD, PhD, Molina, Carlos A. MD, PhD, Giralt-Steinhauer, Eva MD, PhD, Soriano-Tarraga, Carolina PhD, Mola-Caminal, Marina PhD, Jimenez-Conde, Jordi MD, PhD, Roquer, Jaume MD, PhD, Vives-Bauza, Cristofol PhD, Navarro, Rosa Diaz MD, Obach, Victor MD, Arenillas, Juan Francisco MD, PhD, Segura, Tomas MD, and Serrano-Heras, Gemma PhD

Published
2019
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82. Genetic variants in CETP increase risk of intracerebral hemorrhage

Author

Opleiding Neurochirurgie, Opleiding Neurologie, Brain, ZL Cerebrovasculaire Ziekten Medisch, Circulatory Health, Anderson, Christopher D., Falcone, Guido J., Phuah, Chia Ling, Radmanesh, Farid, Brouwers, H. Bart, Battey, Thomas W K, Biffi, Alessandro, Peloso, Gina M., Liu, Dajiang J., Ayres, Alison M., Goldstein, Joshua N., Viswanathan, Anand, Greenberg, Steven M., Selim, Magdy, Meschia, James F., Brown, Devin L., Worrall, Bradford B., Silliman, Scott L., Tirschwell, David L., Flaherty, Matthew L., Kraft, Peter, Jagiella, Jeremiasz M., Schmidt, Helena, Hansen, Björn M., Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano, Carolina, van Nieuwenhuizen, Koen M., Klijn, Catharina J M, Rannikmae, Kristiina, Samarasekera, Neshika, Salman, Rustam Al Shahi, Sudlow, Catherine L., Deary, Ian J., Morotti, Andrea, Pezzini, Alessandro, Pera, Joanna, Urbanik, Andrzej, Pichler, Alexander, Enzinger, Christian, Norrving, Bo, Montaner, Joan, Fernandez-Cadenas, Israel, Delgado, Pilar, Roquer, Jaume, Lindgren, Arne, Slowik, Agnieszka, Schmidt, Reinhold, Kidwell, Chelsea S., Kittner, Steven J., Waddy, Salina P., Langefeld, Carl D., Abecasis, Goncalo, Willer, Cristen J., Kathiresan, Sekar, Woo, Daniel, Rosand, Jonathan, Opleiding Neurochirurgie, Opleiding Neurologie, Brain, ZL Cerebrovasculaire Ziekten Medisch, Circulatory Health, Anderson, Christopher D., Falcone, Guido J., Phuah, Chia Ling, Radmanesh, Farid, Brouwers, H. Bart, Battey, Thomas W K, Biffi, Alessandro, Peloso, Gina M., Liu, Dajiang J., Ayres, Alison M., Goldstein, Joshua N., Viswanathan, Anand, Greenberg, Steven M., Selim, Magdy, Meschia, James F., Brown, Devin L., Worrall, Bradford B., Silliman, Scott L., Tirschwell, David L., Flaherty, Matthew L., Kraft, Peter, Jagiella, Jeremiasz M., Schmidt, Helena, Hansen, Björn M., Jimenez-Conde, Jordi, Giralt-Steinhauer, Eva, Elosua, Roberto, Cuadrado-Godia, Elisa, Soriano, Carolina, van Nieuwenhuizen, Koen M., Klijn, Catharina J M, Rannikmae, Kristiina, Samarasekera, Neshika, Salman, Rustam Al Shahi, Sudlow, Catherine L., Deary, Ian J., Morotti, Andrea, Pezzini, Alessandro, Pera, Joanna, Urbanik, Andrzej, Pichler, Alexander, Enzinger, Christian, Norrving, Bo, Montaner, Joan, Fernandez-Cadenas, Israel, Delgado, Pilar, Roquer, Jaume, Lindgren, Arne, Slowik, Agnieszka, Schmidt, Reinhold, Kidwell, Chelsea S., Kittner, Steven J., Waddy, Salina P., Langefeld, Carl D., Abecasis, Goncalo, Willer, Cristen J., Kathiresan, Sekar, Woo, Daniel, and Rosand, Jonathan

Published
2016

83. Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies

Author

Chauhan, Ganesh, primary, Arnold, Corey R, additional, Chu, Audrey Y, additional, Fornage, Myriam, additional, Reyahi, Azadeh, additional, Bis, Joshua C, additional, Havulinna, Aki S, additional, Sargurupremraj, Muralidharan, additional, Smith, Albert Vernon, additional, Adams, Hieab H H, additional, Choi, Seung Hoan, additional, Pulit, Sara L, additional, Trompet, Stella, additional, Garcia, Melissa E, additional, Manichaikul, Ani, additional, Teumer, Alexander, additional, Gustafsson, Stefan, additional, Bartz, Traci M, additional, Bellenguez, Céline, additional, Vidal, Jean Sebastien, additional, Jian, Xueqiu, additional, Kjartansson, Olafur, additional, Wiggins, Kerri L, additional, Satizabal, Claudia L, additional, Xue, Flora, additional, Ripatti, Samuli, additional, Liu, Yongmei, additional, Deelen, Joris, additional, den Hoed, Marcel, additional, Bevan, Steve, additional, Hopewell, Jemma C, additional, Malik, Rainer, additional, Heckbert, Susan R, additional, Rice, Kenneth, additional, Smith, Nicholas L, additional, Levi, Christopher, additional, Sharma, Pankaj, additional, Sudlow, Cathie LM, additional, Nik, Ali Moussavi, additional, Cole, John W, additional, Schmidt, Reinhold, additional, Meschia, James, additional, Thijs, Vincent, additional, Lindgren, Arne, additional, Melander, Olle, additional, Grewal, Raji P, additional, Sacco, Ralph L, additional, Rundek, Tatjana, additional, Rothwell, Peter M, additional, Arnett, Donna K, additional, Jern, Christina, additional, Johnson, Julie A, additional, Benavente, Oscar R, additional, Wassertheil-Smoller, Sylvia, additional, Lee, Jin-Moo, additional, Wong, Quenna, additional, Aparicio, Hugo J, additional, Engelter, Stefan T, additional, Kloss, Manja, additional, Leys, Didier, additional, Pezzini, Alessandro, additional, Buring, Julie E, additional, Ridker, Paul M, additional, Berr, Claudine, additional, Dartigues, Jean-François, additional, Hamsten, Anders, additional, Magnusson, Patrik K, additional, Traylor, Matthew, additional, Pedersen, Nancy L, additional, Lannfelt, Lars, additional, Lindgren, Lars, additional, Lindgren, Cecilia M, additional, Morris, Andrew P, additional, Jimenez-Conde, Jordi, additional, Montaner, Joan, additional, Radmanesh, Farid, additional, Slowik, Agnieszka, additional, Woo, Daniel, additional, Hofman, Albert, additional, Koudstaal, Peter J, additional, Portegies, Marileen L P, additional, Uitterlinden, André G, additional, de Craen, Anton J M, additional, Ford, Ian, additional, Jukema, J Wouter, additional, Stott, David J, additional, Allen, Norrina B, additional, Sale, Michele M, additional, Johnson, Andrew D, additional, Bennett, David A, additional, De Jager, Philip L, additional, White, Charles C, additional, Grabe, Hans Jörgen, additional, Markus, Marcello Ricardo Paulista, additional, Schminke, Ulf, additional, Boncoraglio, Giorgio B, additional, Clarke, Robert, additional, Kamatani, Yoichiro, additional, Dallongeville, Jean, additional, Lopez, Oscar L, additional, Rotter, Jerome I, additional, Nalls, Michael A, additional, Gottesman, Rebecca F, additional, Griswold, Michael E, additional, Knopman, David S, additional, Windham, B Gwen, additional, Beiser, Alexa, additional, Markus, Hugh S, additional, Vartiainen, Erkki, additional, French, Curtis R, additional, Dichgans, Martin, additional, Pastinen, Tomi, additional, Lathrop, Mark, additional, Gudnason, Vilmundur, additional, Kurth, Tobias, additional, Psaty, Bruce M, additional, Harris, Tamara B, additional, Rich, Stephen S, additional, deStefano, Anita L, additional, Schmidt, Carsten Oliver, additional, Worrall, Bradford B, additional, Rosand, Jonathan, additional, Salomaa, Veikko, additional, Mosley, Thomas H, additional, Ingelsson, Erik, additional, van Duijn, Cornelia M, additional, Tzourio, Christophe, additional, Rexrode, Kathryn M, additional, Lehmann, Ordan J, additional, Launer, Lenore J, additional, Ikram, M Arfan, additional, Carlsson, Peter, additional, Chasman, Daniel I, additional, Childs, Sarah J, additional, Longstreth, William T, additional, Seshadri, Sudha, additional, and Debette, Stéphanie, additional

Published
2016
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84. Identification of a new locus and validation of previously reported loci showing differential methylation associated with smoking. The REGICOR study

Author

Sayols-Baixeras, Sergi, primary, Lluís-Ganella, Carla, additional, Subirana, Isaac, additional, Salas, Lucas A, additional, Vilahur, Nadia, additional, Corella, Dolores, additional, Muñoz, Dani, additional, Segura, Antonio, additional, Jimenez-Conde, Jordi, additional, Moran, Sebastián, additional, Soriano-Tárraga, Carolina, additional, Roquer, Jaume, additional, Lopez-Farré, Antonio, additional, Marrugat, Jaume, additional, Fitó, Montse, additional, and Elosua, Roberto, additional

Published
2015
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85. 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., and Silliman, Scott L.

Published
2018
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86. 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, O'Donnell, Martin, Paré, Guillaume, Radmanesh, Farid, Rost, Natalia S., Slowik, Agnieszka, Söderholm, Martin, Traylor, Matthew, and Pulit, Sara L.

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

Author

Chia-Ling Phuah, Dave, Tushar, Malik, Rainer, Raffeld, Miriam R., Ayres, Alison M., Goldstein, Joshua N., Viswanathan, Anand, Greenberg, Steven M., Jagiella, Jeremiasz M., Hansen, Björn M., Bo Norrving, Jimenez-Conde, Jordi, Roquer, Jaume, Pichler, Alexander, Enzinger, Christian, Montaner, Joan, Fernandez-Cadenas, Israel, Lindgren, Arne, Slowik, Agnieszka, and Schmidt, Reinhold

Subjects
MYELOPEROXIDASE, STROKE risk factors, INFLAMMATION, ATHEROSCLEROSIS, HYPOTHESIS, CEREBRAL hemorrhage, DATABASES, LONGITUDINAL method, NONPARAMETRIC statistics, OXIDOREDUCTASES, RESEARCH funding, STROKE, CASE-control method, SEQUENCE analysis, DISEASE complications
Abstract

Primary intracerebral haemorrhage and lacunar ischaemic stroke are acute manifestations of progressive cerebral microvascular disease. Current paradigms suggest atherosclerosis is a chronic, dynamic, inflammatory condition precipitated in response to endothelial injury from various environmental challenges. Myeloperoxidase plays a central role in initiation and progression of vascular inflammation, but prior studies linking myeloperoxidase with stroke risk have been inconclusive. We hypothesized that genetic determinants of myeloperoxidase levels influence the development of vascular instability, leading to increased primary intracerebral haemorrhage and lacunar stroke risk. We used a discovery cohort of 1409 primary intracerebral haemorrhage cases and 1624 controls from three studies, an extension cohort of 12 577 ischaemic stroke cases and 25 643 controls from NINDS-SiGN, and a validation cohort of 10 307 ischaemic stroke cases and 29 326 controls from METASTROKE Consortium with genome-wide genotyping to test this hypothesis. A genetic risk score reflecting elevated myeloperoxidase levels was constructed from 15 common single nucleotide polymorphisms identified from prior genome-wide studies of circulating myeloperoxidase levels (P < 5 × 10-6). This genetic risk score was used as the independent variable in multivariable regression models for association with primary intracerebral haemorrhage and ischaemic stroke subtypes. We used fixed effects meta-analyses to pool estimates across studies. We also used Cox regression models in a prospective cohort of 174 primary intracerebral haemorrhage survivors for association with intracerebral haemorrhage recurrence. We present effects of myeloperoxidase elevating single nucleotide polymorphisms on stroke risk per risk allele, corresponding to a one allele increase in the myeloperoxidase increasing genetic risk score. Genetic determinants of elevated circulating myeloperoxidase levels were associated with both primary intracerebral haemorrhage risk (odds ratio, 1.07, P = 0.04) and recurrent intracerebral haemorrhage risk (hazards ratio, 1.45, P = 0.006). In analysis of ischaemic stroke subtypes, the myeloperoxidase increasing genetic risk score was strongly associated with lacunar subtype only (odds ratio, 1.05, P = 0.0012). These results, demonstrating that common genetic variants that increase myeloperoxidase levels increase risk of primary intracerebral haemorrhage and lacunar stroke, directly implicate the myeloperoxidase pathway in the pathogenesis of cerebral small vessel disease. Because genetic variants are not influenced by environmental exposures, these results provide new support for a causal rather than bystander role for myeloperoxidase in the progression of cerebrovascular disease. Furthermore, these results support a rationale for chronic inflammation as a potential modifiable stroke risk mechanism, and suggest that immune-targeted therapies could be useful for treatment and prevention of cerebrovascular disease. [ABSTRACT FROM AUTHOR]

Published
2017
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88. Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage

Author

Woo, Daniel, primary, Falcone, Guido J., additional, Devan, William J., additional, Brown, W. Mark, additional, Biffi, Alessandro, additional, Howard, Timothy D., additional, Anderson, Christopher D., additional, Brouwers, H. Bart, additional, Valant, Valerie, additional, Battey, Thomas W.K., additional, Radmanesh, Farid, additional, Raffeld, Miriam R., additional, Baedorf-Kassis, Sylvia, additional, Deka, Ranjan, additional, Woo, Jessica G., additional, Martin, Lisa J., additional, Haverbusch, Mary, additional, Moomaw, Charles J., additional, Sun, Guangyun, additional, Broderick, Joseph P., additional, Flaherty, Matthew L., additional, Martini, Sharyl R., additional, Kleindorfer, Dawn O., additional, Kissela, Brett, additional, Comeau, Mary E., additional, Jagiella, Jeremiasz M., additional, Schmidt, Helena, additional, Freudenberger, Paul, additional, Pichler, Alexander, additional, Enzinger, Christian, additional, Hansen, Björn M., additional, Norrving, Bo, additional, Jimenez-Conde, Jordi, additional, Giralt-Steinhauer, Eva, additional, Elosua, Roberto, additional, Cuadrado-Godia, Elisa, additional, Soriano, Carolina, additional, Roquer, Jaume, additional, Kraft, Peter, additional, Ayres, Alison M., additional, Schwab, Kristin, additional, McCauley, Jacob L., additional, Pera, Joanna, additional, Urbanik, Andrzej, additional, Rost, Natalia S., additional, Goldstein, Joshua N., additional, Viswanathan, Anand, additional, Stögerer, Eva-Maria, additional, Tirschwell, David L., additional, Selim, Magdy, additional, Brown, Devin L., additional, Silliman, Scott L., additional, Worrall, Bradford B., additional, Meschia, James F., additional, Kidwell, Chelsea S., additional, Montaner, Joan, additional, Fernandez-Cadenas, Israel, additional, Delgado, Pilar, additional, Malik, Rainer, additional, Dichgans, Martin, additional, Greenberg, Steven M., additional, Rothwell, Peter M., additional, Lindgren, Arne, additional, Slowik, Agnieszka, additional, Schmidt, Reinhold, additional, Langefeld, Carl D., additional, and Rosand, Jonathan, additional

Published
2014
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89. 17p12Influences 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.

Abstract

Supplemental Digital Content is available in the text.

Published
2018
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90. Etiologic Stroke Subtypes in the NINDS Stroke Genetics Network Study (S32.001)

Author

Ay, Hakan, primary, Arsava, Ethem Murat, additional, Brown, Robert, additional, Kittner, Steven, additional, McArdle, Patrick, additional, Rosand, Jonathan, additional, Rundek, Tatjana, additional, Worrall, Bradford, additional, Woo, Daniel, additional, Arnett, Donna, additional, Rexrode, Kathryn, additional, Smoller, Sylvia, additional, Grewal, Raji, additional, Sacco, Ralph, additional, Cole, John, additional, Slowik, Agnieszka, additional, Lindgren, Arne, additional, Jimenez-Conde, Jordi, additional, Jern, Christina, additional, Thijs, Vincent, additional, Schmidt, Reinhold, additional, Sharma, Pankja, additional, Rothwell, Peter, additional, Dichgans, Martin, additional, Lee, Jin-Moo, additional, Sudlow, Cathie, additional, Marcus, Hugh, additional, Fornage, Myriam, additional, Rich, Stephen, additional, deBaker, Paul, additional, Mitchell, Braxton, additional, and Meschia, James, additional

Published
2013
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91. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease.

Author

Rannikmäe, Kristiina, Davies, Gail, Thomson, Pippa A, Bevan, Steve, Devan, William J, Falcone, Guido J, Traylor, Matthew, Anderson, Christopher D, Battey, Thomas W K, Radmanesh, Farid, Deka, Ranjan, Woo, Jessica G, Martin, Lisa J, Jimenez-Conde, Jordi, Selim, Magdy, Brown, Devin L, Silliman, Scott L, Kidwell, Chelsea S, Montaner, Joan, and Langefeld, Carl D

Published
2015
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93. Common variation in COL4A1/COL4A2is associated with sporadic cerebral small vessel disease

Author

Rannikmäe, Kristiina, Davies, Gail, Thomson, Pippa A., Bevan, Steve, Devan, William J., Falcone, Guido J., Traylor, Matthew, Anderson, Christopher D., Battey, Thomas W.K., Radmanesh, Farid, Deka, Ranjan, Woo, Jessica G., Martin, Lisa J., Jimenez-Conde, Jordi, Selim, Magdy, Brown, Devin L., Silliman, Scott L., Kidwell, Chelsea S., Montaner, Joan, Langefeld, Carl D., Slowik, Agnieszka, Hansen, Björn M., Lindgren, Arne G., Meschia, James F., Fornage, Myriam, Bis, Joshua C., Debette, Stéphanie, Ikram, Mohammad A., Longstreth, Will T., Schmidt, Reinhold, Zhang, Cathy R., Yang, Qiong, Sharma, Pankaj, Kittner, Steven J., Mitchell, Braxton D., Holliday, Elizabeth G., Levi, Christopher R., Attia, John, Rothwell, Peter M., Poole, Deborah L., Boncoraglio, Giorgio B., Psaty, Bruce M., Malik, Rainer, Rost, Natalia, Worrall, Bradford B., Dichgans, Martin, Van Agtmael, Tom, Woo, Daniel, Markus, Hugh S., Seshadri, Sudha, Rosand, Jonathan, and Sudlow, Cathie L.M.

Published
2015
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94. Stroke Genetics Network (SiGN) Study.

Author

Meschia, James F., Arnett, Donna K., Ay, Hakan, Brown Jr., Robert D., Benavente, Oscar R., Cole, John W., de Bakker, Paul I.W., Dichgans, Martin, Doheny, Kimberly F., Fornage, Myriam, Grewal, Raji P., Gwinn, Katrina, Jern, Christina, Jimenez Conde, Jordi, Johnson, Julie A., Jood, Katarina, Laurie, Cathy C., Jin-Moo Lee, Lindgren, Arne, and Markus, Hugh S.

Published
2013
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95. Variants at APOE influence risk of deep and lobar intracerebral hemorrhage.

Author

Biffi, Alessandro, Sonni, Akshata, Anderson, Christopher D., Kissela, Brett, Jagiella, Jeremiasz M., Schmidt, Helena, Jimenez-Conde, Jordi, Hansen, Björn M., Fernandez-Cadenas, Israel, Cortellini, Lynelle, Ayres, Alison, Schwab, Kristin, Juchniewicz, Karol, Urbanik, Andrzej, Rost, Natalia S., Viswanathan, Anand, Seifert-Held, Thomas, Stoegerer, Eva-Maria, Tomás, Marta, and Rabionet, Raquel

Abstract

Objective Prior studies investigating the association between APOE alleles ε2/ε4 and risk of intracerebral hemorrhage (ICH) have been inconsistent and limited to small sample sizes, and did not account for confounding by population stratification or determine which genetic risk model was best applied. Methods We performed a large-scale genetic association study of 2189 ICH cases and 4041 controls from 7 cohorts, which were analyzed using additive models for ε2 and ε4. Results were subsequently meta-analyzed using a random effects model. A proportion of the individuals (322 cases, 357 controls) had available genome-wide data to adjust for population stratification. Results Alleles ε2 and ε4 were associated with lobar ICH at genome-wide significance levels (odds ratio [OR] = 1.82, 95% confidence interval [CI] = 1.50-2.23, p = 6.6 × 10−10; and OR = 2.20, 95%CI = 1.85-2.63, p = 2.4 × 10−11, respectively). Restriction of analysis to definite/probable cerebral amyloid angiopathy ICH uncovered a stronger effect. Allele ε4 was also associated with increased risk for deep ICH (OR = 1.21, 95% CI = 1.08-1.36, p = 2.6 × 10−4). Risk prediction evaluation identified the additive model as best for describing the effect of APOE genotypes. Interpretation APOE ε2 and ε4 are independent risk factors for lobar ICH, consistent with their known associations with amyloid biology. In addition, we present preliminary findings on a novel association between APOE ε4 and deep ICH. Finally, we demonstrate that an additive model for these APOE variants is superior to other forms of genetic risk modeling previously applied. ANN NEUROL 2010 [ABSTRACT FROM AUTHOR]

Published
2010
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96. Agreement between TOAST and CCS ischemic stroke classification

Author

McArdle, Patrick F., Kittner, Steven J., Ay, Hakan, Brown, Robert D., Meschia, James F., Rundek, Tatjana, Wassertheil-Smoller, Sylvia, Woo, Daniel, Andsberg, Gunnar, Biffi, Alessandro, Brenner, David A., Cole, John W., Corriveau, Roderick, de Bakker, Paul I.W., Delavaran, Hossein, Dichgans, Martin, Grewal, Raji P., Gwinn, Katrina, Huq, Mohammed, Jern, Christina, Jimenez-Conde, Jordi, Jood, Katarina, Kaplan, Robert C., Katschnig, Petra, Katsnelson, Michael, Labovitz, Daniel L., Lemmens, Robin, Li, Linxin, Lindgren, Arne, Markus, Hugh S., Peddareddygari, Leema R., Pedersén, Annie, Pera, Joanna, Redfors, Petra, Roquer, Jaume, Rosand, Jonathan, Rost, Natalia S., Rothwell, Peter M., Sacco, Ralph L., Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie, Thijs, Vincent, Tiedt, Steffen, Valenti, Raffaella, and Worrall, Bradford B.

Published
2014
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97. 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, WT, Ikram, M Arfan, Launer, Lenore J, Seshadri, Sudha, METASTROKE, UK Young Lacunar DNA Study, 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 IW, 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 LM, 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, Markus, Hugh S, and International Stroke Genetics Consortium

Subjects
Adult, Aged, 80 and over, Male, Genetic Variation, Zinc Fingers, Middle Aged, 3. Good health, Stroke, Genetic Loci, Cerebral Small Vessel Diseases, Stroke, Lacunar, Humans, Female, Chromosomes, Human, Pair 16, Aged, Genome-Wide Association Study
Abstract

OBJECTIVE: Genome-wide association studies (GWAS) have been successful at identifying associations with stroke and stroke subtypes, but have not yet identified any associations solely with small vessel stroke (SVS). SVS comprises one quarter of all ischemic stroke and is a major manifestation of cerebral small vessel disease, the primary cause of vascular cognitive impairment. Studies across neurological traits have shown that younger-onset cases have an increased genetic burden. We leveraged this increased genetic burden by performing an age-at-onset informed GWAS meta-analysis, including a large younger-onset SVS population, to identify novel associations with stroke. METHODS: We used a three-stage age-at-onset informed GWAS to identify novel genetic variants associated with stroke. On identifying a novel locus associated with SVS, we assessed its influence on other small vessel disease phenotypes, as well as on messenger RNA (mRNA) expression of nearby genes, and on DNA methylation of nearby CpG sites in whole blood and in the fetal brain. RESULTS: We identified an association with SVS in 4,203 cases and 50,728 controls on chromosome 16q24.2 (odds ratio [OR; 95% confidence interval {CI}] = 1.16 [1.10-1.22]; p = 3.2 × 10-9 ). The lead single-nucleotide polymorphism (rs12445022) was also associated with cerebral white matter hyperintensities (OR [95% CI] = 1.10 [1.05-1.16]; p = 5.3 × 10-5 ; N = 3,670), but not intracerebral hemorrhage (OR [95% CI] = 0.97 [0.84-1.12]; p = 0.71; 1,545 cases, 1,481 controls). rs12445022 is associated with mRNA expression of ZCCHC14 in arterial tissues (p = 9.4 × 10-7 ) and DNA methylation at probe cg16596957 in whole blood (p = 5.3 × 10-6 ). INTERPRETATION: 16q24.2 is associated with SVS. Associations of the locus with expression of ZCCHC14 and DNA methylation suggest the locus acts through changes to regulatory elements. Ann Neurol 2017;81:383-394.

98. Risk Factors for Intracranial Hemorrhage in Cerebral Venous Thrombosis

Author

Afifi, Khaled, Bellanger, Guillaume, Zuurbier, Yvonne, Esperon, Garcia Carlos, Barboza, Miguel, Buyck, Pieter-Jan, Costa, Paolo, Irene Escudero-Martínez, Renard, Dimitri, Lemmens, Robin, Hinteregger, Nicole, Fazekas, Franz, Jimenez Conde, Jordi, Giralt-Steinhauer, Eva, Hiltunen, Sini, Pezzini, Alessandro, Montaner, Joan, Weimar, Christian, Churilov, Leonid, Gattringer, Thomas, Asadi, Hamed, Tatlisumak, Turgut, Coutinho, Jonathan, Demaerel, Philippe, and Thijs, Vincent

100. 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, Hernández, Maria Del C Valdés, Luciano, Michelle, Liewald, David, Deary, Ian J, Starr, John M, Bastin, Mark E, Muñoz Maniega, Susana, Slagboom, P Eline, Beekman, Marian, Deelen, Joris, Uh, Hae-Won, Lemmens, Robin, Brodaty, Henry, Wright, Margaret J, Ames, David, Boncoraglio, Giorgio B, Hopewell, Jemma C, Beecham, Ashley H, Blanton, Susan H, Wright, Clinton B, Sacco, Ralph L, Wen, Wei, Thalamuthu, Anbupalam, Armstrong, Nicola J, Chong, Elizabeth, Schofield, Peter R, Kwok, John B, Van Der Grond, Jeroen, Stott, David J, Ford, Ian, Jukema, J 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, Jimenez-Conde, Jordi, Sharma, Pankaj, Sudlow, Cathie LM, Rosand, Jonathan, Woo, Daniel, Cole, John W, Meschia, James F, Slowik, Agnieszka, Thijs, Vincent, Lindgren, Arne, Melander, Olle, Grewal, Raji P, Rundek, Tatjana, Rexrode, Kathy, Rothwell, Peter M, Arnett, Donna K, Jern, Christina, Johnson, Julie A, Benavente, Oscar R, Wasssertheil-Smoller, Sylvia, Lee, Jin-Moo, Wong, Quenna, Mitchell, Braxton D, Rich, Stephen S, McArdle, Patrick F, Geerlings, Mirjam I, Van Der Graaf, Yolanda, De Bakker, Paul IW, Asselbergs, Folkert W, Srikanth, Velandai, Thomson, Russell, McWhirter, Rebekah, Moran, Chris, Callisaya, Michele, Phan, Thanh, Rutten-Jacobs, Loes CA, Bevan, Steve, Tzourio, Christophe, Mather, Karen A, Sachdev, Perminder S, Van Duijn, Cornelia M, Worrall, Bradford B, Dichgans, Martin, Kittner, Steven J, Markus, Hugh S, Ikram, Mohammad A, Fornage, Myriam, Launer, Lenore J, Seshadri, Sudha, Longstreth, WT, Debette, Stéphanie, and 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

Subjects
2. Zero hunger, 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, 3. Good health
Abstract

OBJECTIVE: To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. METHODS: We 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. RESULTS: The 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. CONCLUSION: In 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.

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