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1. A genome-wide association study of outcome from traumatic brain injury

Author

Kals, Mart, Kunzmann, Kevin, Parodi, Livia, Radmanesh, Farid, Wilson, Lindsay, Izzy, Saef, Anderson, Christopher D, Puccio, Ava M, Okonkwo, David O, Temkin, Nancy, Steyerberg, Ewout W, Stein, Murray B, Manley, Geoff T, Maas, Andrew IR, Richardson, Sylvia, Diaz-Arrastia, Ramon, Palotie, Aarno, Ripatti, Samuli, Rosand, Jonathan, Menon, David K, Åkerlund, Cecilia, Amrein, Krisztina, Andelic, Nada, Andreassen, Lasse, Anke, Audny, Antoni, Anna, Audibert, Gérard, Azouvi, Philippe, Azzolini, Maria Luisa, Bartels, Ronald, Barzó, Pál, Beauvais, Romuald, Beer, Ronny, Bellander, Bo-Michael, Belli, Antonio, Benali, Habib, Berardino, Maurizio, Beretta, Luigi, Blaabjerg, Morten, Bragge, Peter, Brazinova, Alexandra, Brinck, Vibeke, Brooker, Joanne, Brorsson, Camilla, Buki, Andras, Bullinger, Monika, Cabeleira, Manuel, Caccioppola, Alessio, Calappi, Emiliana, Calvi, Maria Rosa, Cameron, Peter, Lozano, Guillermo Carbayo, Carbonara, Marco, Cavallo, Simona, Chevallard, Giorgio, Chieregato, Arturo, Citerio, Giuseppe, Clusmann, Hans, Coburn, Mark, Coles, Jonathan P, Cooper, Jamie D, Correia, Marta, Čović, Amra, Curry, Nicola, Czeiter, Endre, Czosnyka, Marek, DahyotFizelier, Claire, Dark, Paul, Dawes, Helen, De Keyser, Véronique, Degos, Vincent, Corte, Francesco Della, Boogert, Hugo den, Depreitere, Bart, Đilvesi, Đula, Dixit, Abhishek, Donoghue, Emma, Dreier, Jens, Dulière, GuyLoup, Ercole, Ari, Esser, Patrick, Ezer, Erzsébet, Fabricius, Martin, Feigin, Valery L, Foks, Kelly, Frisvold, Shirin, Furmanov, Alex, Gagliardo, Pablo, Galanaud, Damien, Gantner, Dashiell, Gao, Guoyi, George, Pradeep, Ghuysen, Alexandre, Giga, Lelde, Glocker, Ben, Golubovic, Jagoš, Gomez, Pedro A, Gratz, Johannes, Gravesteijn, Benjamin, and Grossi, Francesca

Subjects
Epidemiology, Health Sciences, Traumatic Head and Spine Injury, Genetics, Physical Injury - Accidents and Adverse Effects, Neurosciences, Brain Disorders, Human Genome, Traumatic Brain Injury (TBI), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Brain Injuries, Traumatic, Genome-Wide Association Study, Humans, Mannose-Binding Lectin, Prospective Studies, Transcriptome, Traumatic brain injury, Genome-Wide association study, Outcome, Recovery, Consortia, Genetic Associations In Neurotrauma (GAIN) Consortium, Clinical Sciences, Public Health and Health Services, Clinical sciences
Abstract

BackgroundFactors such as age, pre-injury health, and injury severity, account for less than 35% of outcome variability in traumatic brain injury (TBI). While some residual outcome variability may be attributable to genetic factors, published candidate gene association studies have often been underpowered and subject to publication bias.MethodsWe performed the first genome- and transcriptome-wide association studies (GWAS, TWAS) of genetic effects on outcome in TBI. The study population consisted of 5268 patients from prospective European and US studies, who attended hospital within 24 h of TBI, and satisfied local protocols for computed tomography.FindingsThe estimated heritability of TBI outcome was 0·26. GWAS revealed no genetic variants with genome-wide significance (p < 5 × 10-8), but identified 83 variants in 13 independent loci which met a lower pre-specified sub-genomic statistical threshold (p < 10-5). Similarly, none of the genes tested in TWAS met tissue-wide significance. An exploratory analysis of 75 published candidate variants associated with 28 genes revealed one replicable variant (rs1800450 in the MBL2 gene) which retained significance after correction for multiple comparison (p = 5·24 × 10-4).InterpretationWhile multiple novel loci reached less stringent thresholds, none achieved genome-wide significance. The overall heritability estimate, however, is consistent with the hypothesis that common genetic variation substantially contributes to inter-individual variability in TBI outcome. The meta-analytic approach to the GWAS and the availability of summary data allows for a continuous extension with additional cohorts as data becomes available.FundingA full list of funding bodies that contributed to this study can be found in the Acknowledgements section.

Published
2022

3. Concussion burden and later‐life cardiovascular risk factors in former professional American‐style football players

Author

Tan, Can Ozan, primary, Grashow, Rachel, additional, Thorpe, Roland, additional, Miller, Karen K., additional, Nathan, David M., additional, Izzy, Saef, additional, Radmanesh, Farid, additional, Kim, Jonathan H., additional, Weisskopf, Marc G., additional, Taylor, Herman A., additional, Zafonte, Ross D., additional, and Baggish, Aaron L., additional

Published
2024
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4. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Author

Prins, Bram P, Mead, Timothy J, Brody, Jennifer A, Sveinbjornsson, Gardar, Ntalla, Ioanna, Bihlmeyer, Nathan A, van den Berg, Marten, Bork-Jensen, Jette, Cappellani, Stefania, Van Duijvenboden, Stefan, Klena, Nikolai T, Gabriel, George C, Liu, Xiaoqin, Gulec, Cagri, Grarup, Niels, Haessler, Jeffrey, Hall, Leanne M, Iorio, Annamaria, Isaacs, Aaron, Li-Gao, Ruifang, Lin, Honghuang, Liu, Ching-Ti, Lyytikäinen, Leo-Pekka, Marten, Jonathan, Mei, Hao, Müller-Nurasyid, Martina, Orini, Michele, Padmanabhan, Sandosh, Radmanesh, Farid, Ramirez, Julia, Robino, Antonietta, Schwartz, Molly, van Setten, Jessica, Smith, Albert V, Verweij, Niek, Warren, Helen R, Weiss, Stefan, Alonso, Alvaro, Arnar, David O, Bots, Michiel L, de Boer, Rudolf A, Dominiczak, Anna F, Eijgelsheim, Mark, Ellinor, Patrick T, Guo, Xiuqing, Felix, Stephan B, Harris, Tamara B, Hayward, Caroline, Heckbert, Susan R, Huang, Paul L, Jukema, JW, Kähönen, Mika, Kors, Jan A, Lambiase, Pier D, Launer, Lenore J, Li, Man, Linneberg, Allan, Nelson, Christopher P, Pedersen, Oluf, Perez, Marco, Peters, Annette, Polasek, Ozren, Psaty, Bruce M, Raitakari, Olli T, Rice, Kenneth M, Rotter, Jerome I, Sinner, Moritz F, Soliman, Elsayed Z, Spector, Tim D, Strauch, Konstantin, Thorsteinsdottir, Unnur, Tinker, Andrew, Trompet, Stella, Uitterlinden, André, Vaartjes, Ilonca, van der Meer, Peter, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Wilson, James G, Xie, Zhijun, Asselbergs, Folkert W, Dörr, Marcus, van Duijn, Cornelia M, Gasparini, Paolo, Gudbjartsson, Daniel F, Gudnason, Vilmundur, Hansen, Torben, Kääb, Stefan, Kanters, Jørgen K, Kooperberg, Charles, Lehtimäki, Terho, Lin, Henry J, Lubitz, Steven A, Mook-Kanamori, Dennis O, Conti, Francesco J, Newton-Cheh, Christopher H, Rosand, Jonathan, Rudan, Igor, and Samani, Nilesh J

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Heart Disease, Cardiovascular, 2.1 Biological and endogenous factors, Aetiology, ADAMTS Proteins, Animals, Black People, Connexin 43, Electrocardiography, Exome, Female, Gene Expression, Gene Expression Profiling, Genetic Loci, Genome-Wide Association Study, Heart Conduction System, Humans, Male, Mice, Middle Aged, Myocardium, Open Reading Frames, Polymorphism, Single Nucleotide, White People, Exome Sequencing, Exome chip, Conduction, ADAMTS6, Meta-analysis, Environmental Sciences, Information and Computing Sciences, Bioinformatics
Abstract

BackgroundGenome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the variants identified fall predominantly in non-coding regions and their underlying mechanisms remain unclear.ResultsHere, we identify putative functional coding variation associated with changes in the QRS interval duration by combining Illumina HumanExome BeadChip genotype data from 77,898 participants of European ancestry and 7695 of African descent in our discovery cohort, followed by replication in 111,874 individuals of European ancestry from the UK Biobank and deCODE cohorts. We identify ten novel loci, seven within coding regions, including ADAMTS6, significantly associated with QRS duration in gene-based analyses. ADAMTS6 encodes a secreted metalloprotease of currently unknown function. In vitro validation analysis shows that the QRS-associated variants lead to impaired ADAMTS6 secretion and loss-of function analysis in mice demonstrates a previously unappreciated role for ADAMTS6 in connexin 43 gap junction expression, which is essential for myocardial conduction.ConclusionsOur approach identifies novel coding and non-coding variants underlying ventricular depolarization and provides a possible mechanism for the ADAMTS6-associated conduction changes.

Published
2018

5. A genome-wide association study of outcome from traumatic brain injury

Author

Åkerlund, Cecilia, Amrein, Krisztina, Andelic, Nada, Andreassen, Lasse, Anke, Audny, Antoni, Anna, Audibert, Gérard, Azouvi, Philippe, Azzolini, Maria Luisa, Bartels, Ronald, Barzó, Pál, Beauvais, Romuald, Beer, Ronny, Bellander, Bo-Michael, Belli, Antonio, Benali, Habib, Berardino, Maurizio, Beretta, Luigi, Blaabjerg, Morten, Bragge, Peter, Brazinova, Alexandra, Brinck, Vibeke, Brooker, Joanne, Brorsson, Camilla, Buki, Andras, Bullinger, Monika, Cabeleira, Manuel, Caccioppola, Alessio, Calappi, Emiliana, Calvi, Maria Rosa, Cameron, Peter, Lozano, Guillermo Carbayo, Carbonara, Marco, Cavallo, Simona, Chevallard, Giorgio, Chieregato, Arturo, Citerio, Giuseppe, Clusmann, Hans, Coburn, Mark, Coles, Jonathan P., Cooper, Jamie D., Correia, Marta, Čović, Amra, Curry, Nicola, Czeiter, Endre, Czosnyka, Marek, DahyotFizelier, Claire, Dark, Paul, Dawes, Helen, De Keyser, Véronique, Degos, Vincent, Corte, Francesco Della, Boogert, Hugo den, Depreitere, Bart, Đilvesi, Đula, Dixit, Abhishek, Donoghue, Emma, Dreier, Jens, Dulière, GuyLoup, Ercole, Ari, Esser, Patrick, Ezer, Erzsébet, Fabricius, Martin, Feigin, Valery L., Foks, Kelly, Frisvold, Shirin, Furmanov, Alex, Gagliardo, Pablo, Galanaud, Damien, Gantner, Dashiell, Gao, Guoyi, George, Pradeep, Ghuysen, Alexandre, Giga, Lelde, Glocker, Ben, Golubovic, Jagoš, Gomez, Pedro A., Gratz, Johannes, Gravesteijn, Benjamin, Grossi, Francesca, Gruen, Russell L., Gupta, Deepak, Haagsma, Juanita A., Haitsma, Iain, Helbok, Raimund, Helseth, Eirik, Horton, Lindsay, Huijben, Jilske, Hutchinson, Peter J.A., Jacobs, Bram, Jankowski, Stefan, Jarrett, Mike, Jiang, Jiyao, Johnson, Faye, Jones, Kelly, Karan, Mladen, Kolias, Angelos G., Kompanje, Erwin, Kondziella, Daniel, Kornaropoulos, Evgenios, Koskinen, LarsOwe, Kovács, Noémi, Kowark, Ana, Lagares, Alfonso, Lanyon, Linda, Laureys, Steven, Lecky, Fiona, Ledoux, Didier, Lefering, Rolf, Legrand, Valerie, Lejeune, Aurelie, Levi, Leon, Lightfoot, Roger, Lingsma, Hester, Maas, Andrew I.R., CastañoLeón, Ana M., Maegele, Marc, Majdan, Marek, Manara, Alex, Martino, Costanza, Maréchal, Hugues, Mattern, Julia, McMahon, Catherine, Melegh, Béla, Menon, David K., Menovsky, Tomas, Mikolic, Ana, Misset, Benoit, Muraleedharan, Visakh, Murray, Lynnette, Negru, Ancuta, Nelson, David, Newcombe, Virginia F.J., Nieboer, Daan, Nyirádi, József, Olubukola, Otesile, Oresic, Matej, Ortolano, Fabrizio, Palotie, Aarno, Parizel, Paul M., Payen, JeanFrançois, Perera, Natascha, Perlbarg, Vincent, Persona, Paolo, Peul, Wilco, Piippo-Karjalainen, Anna, Pirinen, Matti, Pisica, Dana, Ples, Horia, Polinder, Suzanne, Pomposo, Inigo, Posti, Jussi P., Puybasset, Louis, Radoi, Andreea, Ragauskas, Arminas, Raj, Rahul, Rambadagalla, Malinka, Helmrich, Isabel Retel, Rhodes, Jonathan, Richardson, Sylvia, Richter, Sophie, Ripatti, Samuli, Rocka, Saulius, Roe, Cecilie, Roise, Olav, Rosenfeld, Jeffrey V., Rosenlund, Christina, Rosenthal, Guy, Rossaint, Rolf, Rossi, Sandra, Rueckert, Daniel, Rusnák, Martin, Sahuquillo, Juan, Sakowitz, Oliver, SanchezPorras, Renan, Sandor, Janos, Schäfer, Nadine, Schmidt, Silke, Schoechl, Herbert, Schoonman, Guus, Schou, Rico Frederik, Schwendenwein, Elisabeth, Sewalt, Charlie, Skandsen, Toril, Smielewski, Peter, Sorinola, Abayomi, Stamatakis, Emmanuel, Stanworth, Simon, Stevens, Robert, Stewart, William, Steyerberg, Ewout W., Stocchetti, Nino, Sundström, Nina, Takala, Riikka, Tamás, Viktória, Tamosuitis, Tomas, Taylor, Mark Steven, Ao, Braden Te, Tenovuo, Olli, Theadom, Alice, Thomas, Matt, Tibboel, Dick, Timmers, Marjolein, Tolias, Christos, Trapani, Tony, Tudora, Cristina Maria, Unterberg, Andreas, Vajkoczy, Peter, Vallance, Shirley, Valeinis, Egils, Vámos, Zoltán, van der Jagt, Mathieu, van der Steen, Gregory, van der Naalt, Joukje, van Dijck, Jeroen T.J.M., van Essen, Thomas A., Van Hecke, Wim, van Heugten, Caroline, Van Praag, Dominique, van Veen, Ernest, Vyvere, Thijs Vande, van Wijk, Roel P.J., Vargiolu, Alessia, Vega, Emmanuel, Velt, Kimberley, Verheyden, Jan, Vespa, Paul M., Vik, Anne, Vilcinis, Rimantas, Volovici, Victor, von Steinbüchel, Nicole, Voormolen, Daphne, Vulekovic, Petar, Wang, Kevin K.W., Wiegers, Eveline, Williams, Guy, Wilson, Lindsay, Winzeck, Stefan, Wolf, Stefan, Yang, Zhihui, Ylén, Peter, Younsi, Alexander, Zeiler, Frederick A., Zelinkova, Veronika, Ziverte, Agate, Zoerle, Tommaso, Izzy, Saef, Radmanesh, Farid, Frantzén, Janek, Katila, Ari, Maanpää, Henna-Rikka, Tallus, Jussi, Adeoye, Opeolu, Badjatia, Neeraj, Boase, Kim, Barber, Jason, Bodien, Yelena, Chesnut, Randall, Corrigan, John D., Crawford, Karen, Diaz-Arrastia, Ramon, Dikmen, Sureyya, Duhaime, Ann-Christine, Ellenbogen, Richard, Feeser, Ramana, Ferguson, Adam R., Foreman, Brandon, Gardner, Raquel, Gaudette, Etienne, Giacino, Joseph, Goldman, Dana, Gonzalez, Luis, Gopinath, Shankar, Gullapalli, Rao, Hemphill, Claude, Hotz, Gillian, Jain, Sonia, Keene, Dirk, Korley, Frederick K., Kramer, Joel, Kreitzer, Natalie, Levin, Harvey, Lindsell, Chris, Machamer, Joan, Madden, Christopher, Manley, Geoffrey T., Martin, Alastair, McAllister, Thomas, McCrea, Michael, Merchant, Randall, Mukherjee, Pratik, Nelson, Lindsay, Ngwenya, Laura B, Noel, Florence, Nolan, Amber, Okonkwo, David, Palacios, Eva, Perl, Daniel, Puccio, Ava, Rabinowitz, Miri, Robertson, Claudia, Rosand, Jonathan, Sander, Angelle, Satris, Gabriella, Schnyer, David, Seabury, Seth, Sherer, Mark, Stein, Murray, Taylor, Sabrina, Temkin, Nancy, Toga, Arthur, Valadka, Alex, Vassar, Mary, Yue, John K., Yuh, Esther, Zafonte, Ross, Kals, Mart, Kunzmann, Kevin, Parodi, Livia, Anderson, Christopher D., Puccio, Ava M., Okonkwo, David O., Stein, Murray B., and Manley, Geoff T.

Published
2022
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6. ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals

Author

Bihlmeyer, Nathan A, Brody, Jennifer A, Smith, Albert Vernon, Warren, Helen R, Lin, Honghuang, Isaacs, Aaron, Liu, Ching-Ti, Marten, Jonathan, Radmanesh, Farid, Hall, Leanne M, Grarup, Niels, Mei, Hao, Müller-Nurasyid, Martina, Huffman, Jennifer E, Verweij, Niek, Guo, Xiuqing, Yao, Jie, Li-Gao, Ruifang, van den Berg, Marten, Weiss, Stefan, Prins, Bram P, van Setten, Jessica, Haessler, Jeffrey, Lyytikäinen, Leo-Pekka, Li, Man, Alonso, Alvaro, Soliman, Elsayed Z, Bis, Joshua C, Austin, Tom, Chen, Yii-Der Ida, Psaty, Bruce M, Harrris, Tamara B, Launer, Lenore J, Padmanabhan, Sandosh, Dominiczak, Anna, Huang, Paul L, Xie, Zhijun, Ellinor, Patrick T, Kors, Jan A, Campbell, Archie, Murray, Alison D, Nelson, Christopher P, Tobin, Martin D, Bork-Jensen, Jette, Hansen, Torben, Pedersen, Oluf, Linneberg, Allan, Sinner, Moritz F, Peters, Annette, Waldenberger, Melanie, Meitinger, Thomas, Perz, Siegfried, Kolcic, Ivana, Rudan, Igor, de Boer, Rudolf A, van der Meer, Peter, Lin, Henry J, Taylor, Kent D, de Mutsert, Renée, Trompet, Stella, Jukema, J Wouter, Maan, Arie C, Stricker, Bruno HC, Rivadeneira, Fernando, Uitterlinden, André, Völker, Uwe, Homuth, Georg, Völzke, Henry, Felix, Stephan B, Mangino, Massimo, Spector, Timothy D, Bots, Michiel L, Perez, Marco, Raitakari, Olli T, Kähönen, Mika, Mononen, Nina, Gudnason, Vilmundur, Munroe, Patricia B, Lubitz, Steven A, van Duijn, Cornelia M, Newton-Cheh, Christopher H, Hayward, Caroline, Rosand, Jonathan, Samani, Nilesh J, Kanters, Jørgen K, Wilson, James G, Kääb, Stefan, Polasek, Ozren, van der Harst, Pim, Heckbert, Susan R, Rotter, Jerome I, Mook-Kanamori, Dennis O, Eijgelsheim, Mark, Dörr, Marcus, Jamshidi, Yalda, Asselbergs, Folkert W, Kooperberg, Charles, Lehtimäki, Terho, Arking, Dan E, and Sotoodehnia, Nona

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Heart Disease, Prevention, Genetics, Cardiovascular, 2.1 Biological and endogenous factors, Aetiology, Antiporters, DNA-Binding Proteins, Electrocardiography, Exome, Genome-Wide Association Study, Humans, Long QT Syndrome, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Receptors, Calcium-Sensing, Transcription Factors, arrhythmias, cardiac, death, sudden, cardiac, genetics, genome, humans, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology
Abstract

BackgroundQT interval, measured through a standard ECG, captures the time it takes for the cardiac ventricles to depolarize and repolarize. JT interval is the component of the QT interval that reflects ventricular repolarization alone. Prolonged QT interval has been linked to higher risk of sudden cardiac arrest.Methods and resultsWe performed an ExomeChip-wide analysis for both QT and JT intervals, including 209 449 variants, both common and rare, in 17 341 genes from the Illumina Infinium HumanExome BeadChip. We identified 10 loci that modulate QT and JT interval duration that have not been previously reported in the literature using single-variant statistical models in a meta-analysis of 95 626 individuals from 23 cohorts (comprised 83 884 European ancestry individuals, 9610 blacks, 1382 Hispanics, and 750 Asians). This brings the total number of ventricular repolarization associated loci to 45. In addition, our approach of using coding variants has highlighted the role of 17 specific genes for involvement in ventricular repolarization, 7 of which are in novel loci.ConclusionsOur analyses show a role for myocyte internal structure and interconnections in modulating QT interval duration, adding to previous known roles of potassium, sodium, and calcium ion regulation, as well as autonomic control. We anticipate that these discoveries will open new paths to the goal of making novel remedies for the prevention of lethal ventricular arrhythmias and sudden cardiac arrest.

Published
2018

7. Discovery of novel heart rate-associated loci using the Exome Chip

Author

van den Berg, Marten E, Warren, Helen R, Cabrera, Claudia P, Verweij, Niek, Mifsud, Borbala, Haessler, Jeffrey, Bihlmeyer, Nathan A, Fu, Yi-Ping, Weiss, Stefan, Lin, Henry J, Grarup, Niels, Li-Gao, Ruifang, Pistis, Giorgio, Shah, Nabi, Brody, Jennifer A, Müller-Nurasyid, Martina, Lin, Honghuang, Mei, Hao, Smith, Albert V, Lyytikäinen, Leo-Pekka, Hall, Leanne M, van Setten, Jessica, Trompet, Stella, Prins, Bram P, Isaacs, Aaron, Radmanesh, Farid, Marten, Jonathan, Entwistle, Aiman, Kors, Jan A, Silva, Claudia T, Alonso, Alvaro, Bis, Joshua C, de Boer, Rudolf, de Haan, Hugoline G, de Mutsert, Renée, Dedoussis, George, Dominiczak, Anna F, Doney, Alex SF, Ellinor, Patrick T, Eppinga, Ruben N, Felix, Stephan B, Guo, Xiuqing, Hagemeijer, Yanick, Hansen, Torben, Harris, Tamara B, Heckbert, Susan R, Huang, Paul L, Hwang, Shih-Jen, Kähönen, Mika, Kanters, Jørgen K, Kolcic, Ivana, Launer, Lenore J, Li, Man, Yao, Jie, Linneberg, Allan, Liu, Simin, Macfarlane, Peter W, Mangino, Massimo, Morris, Andrew D, Mulas, Antonella, Murray, Alison D, Nelson, Christopher P, Orrú, Marco, Padmanabhan, Sandosh, Peters, Annette, Porteous, David J, Poulter, Neil, Psaty, Bruce M, Qi, Lihong, Raitakari, Olli T, Rivadeneira, Fernando, Roselli, Carolina, Rudan, Igor, Sattar, Naveed, Sever, Peter, Sinner, Moritz F, Soliman, Elsayed Z, Spector, Timothy D, Stanton, Alice V, Stirrups, Kathleen E, Taylor, Kent D, Tobin, Martin D, Uitterlinden, André, Vaartjes, Ilonca, Hoes, Arno W, van der Meer, Peter, Völker, Uwe, Waldenberger, Melanie, Xie, Zhijun, Zoledziewska, Magdalena, Tinker, Andrew, Polasek, Ozren, Rosand, Jonathan, Jamshidi, Yalda, van Duijn, Cornelia M, Zeggini, Eleftheria, Jukema, J Wouter, Asselbergs, Folkert W, Samani, Nilesh J, and Lehtimäki, Terho

Subjects
Biological Sciences, Genetics, Human Genome, Biotechnology, Heart Disease, Prevention, Cardiovascular, Stem Cell Research, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adult, Alleles, Exome, Female, Gene Frequency, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Heart Rate, Humans, Male, Middle Aged, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Risk Factors, White People, Medical and Health Sciences, Genetics & Heredity
Abstract

Resting heart rate is a heritable trait, and an increase in heart rate is associated with increased mortality risk. Genome-wide association study analyses have found loci associated with resting heart rate, at the time of our study these loci explained 0.9% of the variation. This study aims to discover new genetic loci associated with heart rate from Exome Chip meta-analyses.Heart rate was measured from either elecrtrocardiograms or pulse recordings. We meta-analysed heart rate association results from 104 452 European-ancestry individuals from 30 cohorts, genotyped using the Exome Chip. Twenty-four variants were selected for follow-up in an independent dataset (UK Biobank, N = 134 251). Conditional and gene-based testing was undertaken, and variants were investigated with bioinformatics methods.We discovered five novel heart rate loci, and one new independent low-frequency non-synonymous variant in an established heart rate locus (KIAA1755). Lead variants in four of the novel loci are non-synonymous variants in the genes C10orf71, DALDR3, TESK2 and SEC31B. The variant at SEC31B is significantly associated with SEC31B expression in heart and tibial nerve tissue. Further candidate genes were detected from long-range regulatory chromatin interactions in heart tissue (SCD, SLF2 and MAPK8). We observed significant enrichment in DNase I hypersensitive sites in fetal heart and lung. Moreover, enrichment was seen for the first time in human neuronal progenitor cells (derived from embryonic stem cells) and fetal muscle samples by including our novel variants.Our findings advance the knowledge of the genetic architecture of heart rate, and indicate new candidate genes for follow-up functional studies.

Published
2017

10. 17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage

Author

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

Published
2018
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11. COL4A2 is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls

Author

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

Published
2017
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12. Association of Traumatic Brain Injury With the Risk of Developing Chronic Cardiovascular, Endocrine, Neurological, and Psychiatric Disorders

Author

Izzy, Saef, primary, Chen, Patrick M., additional, Tahir, Zabreen, additional, Grashow, Rachel, additional, Radmanesh, Farid, additional, Cote, David J., additional, Yahya, Taha, additional, Dhand, Amar, additional, Taylor, Herman, additional, Shih, Shirley L., additional, Albastaki, Omar, additional, Rovito, Craig, additional, Snider, Samuel B., additional, Whalen, Michael, additional, Nathan, David M., additional, Miller, Karen K., additional, Speizer, Frank E., additional, Baggish, Aaron, additional, Weisskopf, Marc G., additional, and Zafonte, Ross, additional

Published
2022
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13. Genetic variation at 16q24.2 is associated with small vessel stroke

Author

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

Published
2017
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15. A genome-wide association study of outcome from traumatic brain injury

Author

Kals, Mart, primary, Kunzmann, Kevin, additional, Parodi, Livia, additional, Radmanesh, Farid, additional, Wilson, Lindsay, additional, Izzy, Saef, additional, Anderson, Christopher D., additional, Puccio, Ava M., additional, Okonkwo, David O., additional, Temkin, Nancy, additional, Steyerberg, Ewout W., additional, Stein, Murray B., additional, Manley, Geoff T., additional, Maas, Andrew I.R., additional, Richardson, Sylvia, additional, Diaz-Arrastia, Ramon, additional, Palotie, Aarno, additional, Ripatti, Samuli, additional, Rosand, Jonathan, additional, Menon, David K., additional, Åkerlund, Cecilia, additional, Amrein, Krisztina, additional, Andelic, Nada, additional, Andreassen, Lasse, additional, Anke, Audny, additional, Antoni, Anna, additional, Audibert, Gérard, additional, Azouvi, Philippe, additional, Azzolini, Maria Luisa, additional, Bartels, Ronald, additional, Barzó, Pál, additional, Beauvais, Romuald, additional, Beer, Ronny, additional, Bellander, Bo-Michael, additional, Belli, Antonio, additional, Benali, Habib, additional, Berardino, Maurizio, additional, Beretta, Luigi, additional, Blaabjerg, Morten, additional, Bragge, Peter, additional, Brazinova, Alexandra, additional, Brinck, Vibeke, additional, Brooker, Joanne, additional, Brorsson, Camilla, additional, Buki, Andras, additional, Bullinger, Monika, additional, Cabeleira, Manuel, additional, Caccioppola, Alessio, additional, Calappi, Emiliana, additional, Calvi, Maria Rosa, additional, Cameron, Peter, additional, Lozano, Guillermo Carbayo, additional, Carbonara, Marco, additional, Cavallo, Simona, additional, Chevallard, Giorgio, additional, Chieregato, Arturo, additional, Citerio, Giuseppe, additional, Clusmann, Hans, additional, Coburn, Mark, additional, Coles, Jonathan P., additional, Cooper, Jamie D., additional, Correia, Marta, additional, Čović, Amra, additional, Curry, Nicola, additional, Czeiter, Endre, additional, Czosnyka, Marek, additional, DahyotFizelier, Claire, additional, Dark, Paul, additional, Dawes, Helen, additional, De Keyser, Véronique, additional, Degos, Vincent, additional, Corte, Francesco Della, additional, Boogert, Hugo den, additional, Depreitere, Bart, additional, Đilvesi, Đula, additional, Dixit, Abhishek, additional, Donoghue, Emma, additional, Dreier, Jens, additional, Dulière, GuyLoup, additional, Ercole, Ari, additional, Esser, Patrick, additional, Ezer, Erzsébet, additional, Fabricius, Martin, additional, Feigin, Valery L., additional, Foks, Kelly, additional, Frisvold, Shirin, additional, Furmanov, Alex, additional, Gagliardo, Pablo, additional, Galanaud, Damien, additional, Gantner, Dashiell, additional, Gao, Guoyi, additional, George, Pradeep, additional, Ghuysen, Alexandre, additional, Giga, Lelde, additional, Glocker, Ben, additional, Golubovic, Jagoš, additional, Gomez, Pedro A., additional, Gratz, Johannes, additional, Gravesteijn, Benjamin, additional, Grossi, Francesca, additional, Gruen, Russell L., additional, Gupta, Deepak, additional, Haagsma, Juanita A., additional, Haitsma, Iain, additional, Helbok, Raimund, additional, Helseth, Eirik, additional, Horton, Lindsay, additional, Huijben, Jilske, additional, Hutchinson, Peter J.A., additional, Jacobs, Bram, additional, Jankowski, Stefan, additional, Jarrett, Mike, additional, Jiang, Jiyao, additional, Johnson, Faye, additional, Jones, Kelly, additional, Karan, Mladen, additional, Kolias, Angelos G., additional, Kompanje, Erwin, additional, Kondziella, Daniel, additional, Kornaropoulos, Evgenios, additional, Koskinen, LarsOwe, additional, Kovács, Noémi, additional, Kowark, Ana, additional, Lagares, Alfonso, additional, Lanyon, Linda, additional, Laureys, Steven, additional, Lecky, Fiona, additional, Ledoux, Didier, additional, Lefering, Rolf, additional, Legrand, Valerie, additional, Lejeune, Aurelie, additional, Levi, Leon, additional, Lightfoot, Roger, additional, Lingsma, Hester, additional, CastañoLeón, Ana M., additional, Maegele, Marc, additional, Majdan, Marek, additional, Manara, Alex, additional, Martino, Costanza, additional, Maréchal, Hugues, additional, Mattern, Julia, additional, McMahon, Catherine, additional, Melegh, Béla, additional, Menovsky, Tomas, additional, Mikolic, Ana, additional, Misset, Benoit, additional, Muraleedharan, Visakh, additional, Murray, Lynnette, additional, Negru, Ancuta, additional, Nelson, David, additional, Newcombe, Virginia F.J., additional, Nieboer, Daan, additional, Nyirádi, József, additional, Olubukola, Otesile, additional, Oresic, Matej, additional, Ortolano, Fabrizio, additional, Parizel, Paul M., additional, Payen, JeanFrançois, additional, Perera, Natascha, additional, Perlbarg, Vincent, additional, Persona, Paolo, additional, Peul, Wilco, additional, Piippo-Karjalainen, Anna, additional, Pirinen, Matti, additional, Pisica, Dana, additional, Ples, Horia, additional, Polinder, Suzanne, additional, Pomposo, Inigo, additional, Posti, Jussi P., additional, Puybasset, Louis, additional, Radoi, Andreea, additional, Ragauskas, Arminas, additional, Raj, Rahul, additional, Rambadagalla, Malinka, additional, Helmrich, Isabel Retel, additional, Rhodes, Jonathan, additional, Richter, Sophie, additional, Rocka, Saulius, additional, Roe, Cecilie, additional, Roise, Olav, additional, Rosenfeld, Jeffrey V., additional, Rosenlund, Christina, additional, Rosenthal, Guy, additional, Rossaint, Rolf, additional, Rossi, Sandra, additional, Rueckert, Daniel, additional, Rusnák, Martin, additional, Sahuquillo, Juan, additional, Sakowitz, Oliver, additional, SanchezPorras, Renan, additional, Sandor, Janos, additional, Schäfer, Nadine, additional, Schmidt, Silke, additional, Schoechl, Herbert, additional, Schoonman, Guus, additional, Schou, Rico Frederik, additional, Schwendenwein, Elisabeth, additional, Sewalt, Charlie, additional, Skandsen, Toril, additional, Smielewski, Peter, additional, Sorinola, Abayomi, additional, Stamatakis, Emmanuel, additional, Stanworth, Simon, additional, Stevens, Robert, additional, Stewart, William, additional, Stocchetti, Nino, additional, Sundström, Nina, additional, Takala, Riikka, additional, Tamás, Viktória, additional, Tamosuitis, Tomas, additional, Taylor, Mark Steven, additional, Ao, Braden Te, additional, Tenovuo, Olli, additional, Theadom, Alice, additional, Thomas, Matt, additional, Tibboel, Dick, additional, Timmers, Marjolein, additional, Tolias, Christos, additional, Trapani, Tony, additional, Tudora, Cristina Maria, additional, Unterberg, Andreas, additional, Vajkoczy, Peter, additional, Vallance, Shirley, additional, Valeinis, Egils, additional, Vámos, Zoltán, additional, van der Jagt, Mathieu, additional, van der Steen, Gregory, additional, van der Naalt, Joukje, additional, van Dijck, Jeroen T.J.M., additional, van Essen, Thomas A., additional, Van Hecke, Wim, additional, van Heugten, Caroline, additional, Van Praag, Dominique, additional, van Veen, Ernest, additional, Vyvere, Thijs Vande, additional, van Wijk, Roel P.J., additional, Vargiolu, Alessia, additional, Vega, Emmanuel, additional, Velt, Kimberley, additional, Verheyden, Jan, additional, Vespa, Paul M., additional, Vik, Anne, additional, Vilcinis, Rimantas, additional, Volovici, Victor, additional, von Steinbüchel, Nicole, additional, Voormolen, Daphne, additional, Vulekovic, Petar, additional, Wang, Kevin K.W., additional, Wiegers, Eveline, additional, Williams, Guy, additional, Winzeck, Stefan, additional, Wolf, Stefan, additional, Yang, Zhihui, additional, Ylén, Peter, additional, Younsi, Alexander, additional, Zeiler, Frederick A., additional, Zelinkova, Veronika, additional, Ziverte, Agate, additional, Zoerle, Tommaso, additional, Frantzén, Janek, additional, Katila, Ari, additional, Maanpää, Henna-Rikka, additional, Tallus, Jussi, additional, Adeoye, Opeolu, additional, Badjatia, Neeraj, additional, Boase, Kim, additional, Barber, Jason, additional, Bodien, Yelena, additional, Chesnut, Randall, additional, Corrigan, John D., additional, Crawford, Karen, additional, Dikmen, Sureyya, additional, Duhaime, Ann-Christine, additional, Ellenbogen, Richard, additional, Feeser, Ramana, additional, Ferguson, Adam R., additional, Foreman, Brandon, additional, Gardner, Raquel, additional, Gaudette, Etienne, additional, Giacino, Joseph, additional, Goldman, Dana, additional, Gonzalez, Luis, additional, Gopinath, Shankar, additional, Gullapalli, Rao, additional, Hemphill, Claude, additional, Hotz, Gillian, additional, Jain, Sonia, additional, Keene, Dirk, additional, Korley, Frederick K., additional, Kramer, Joel, additional, Kreitzer, Natalie, additional, Levin, Harvey, additional, Lindsell, Chris, additional, Machamer, Joan, additional, Madden, Christopher, additional, Manley, Geoffrey T., additional, Martin, Alastair, additional, McAllister, Thomas, additional, McCrea, Michael, additional, Merchant, Randall, additional, Mukherjee, Pratik, additional, Nelson, Lindsay, additional, Ngwenya, Laura B, additional, Noel, Florence, additional, Nolan, Amber, additional, Okonkwo, David, additional, Palacios, Eva, additional, Perl, Daniel, additional, Puccio, Ava, additional, Rabinowitz, Miri, additional, Robertson, Claudia, additional, Sander, Angelle, additional, Satris, Gabriella, additional, Schnyer, David, additional, Seabury, Seth, additional, Sherer, Mark, additional, Stein, Murray, additional, Taylor, Sabrina, additional, Toga, Arthur, additional, Valadka, Alex, additional, Vassar, Mary, additional, Yue, John K., additional, Yuh, Esther, additional, and Zafonte, Ross, additional

Published
2022
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16. GENOME-WIDE ASSOCIATION STUDY (GWAS) AND GENOME-WIDE BY ENVIRONMENT INTERACTION STUDY (GWEIS) OF DEPRESSIVE SYMPTOMS IN AFRICAN AMERICAN AND HISPANIC/LATINA WOMEN

Author

Dunn, Erin C., Wiste, Anna, Radmanesh, Farid, Almli, Lynn M., Gogarten, Stephanie M., Sofer, Tamar, Faul, Jessica D., Kardia, Sharon L. R., Smith, Jennifer A., Weir, David R., Zhao, Wei, Soare, Thomas W., Mirza, Saira S., Hek, Karin, Tiemeier, Henning, Goveas, Joseph S., Sarto, Gloria E., Snively, Beverly M., Cornelis, Marilyn, Koenen, Karestan C., Kraft, Peter, Purcell, Shaun, Ressler, Kerry J., Rosand, Jonathan, Wassertheil-Smoller, Sylvia, and Smoller, Jordan W.

Published
2016
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17. Rare Coding Variation and Risk of Intracerebral Hemorrhage

Author

Radmanesh, Farid, Falcone, Guido J., Anderson, Christopher D., McWilliams, David, Devan, William J., Brown, W. Mark, Battey, Thomas W.K., Ayres, Alison M., Raffeld, Miriam R., Schwab, Kristin, Sun, Guangyun, Deka, Ranjan, Viswanathan, Anand, Goldstein, Joshua N., Greenberg, Steven M., Tirschwell, David L., Silliman, Scott L., Selim, Magdy, Meschia, James F., Brown, Devin L., Worrall, Bradford B., Langefeld, Carl D., Woo, Daniel, and Rosand, Jonathan

Published
2015
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18. Genetic Architecture of White Matter Hyperintensities Differs in Hypertensive and Nonhypertensive Ischemic Stroke

Author

Adib-Samii, Poneh, Devan, William, Traylor, Matthew, Lanfranconi, Silvia, Zhang, Cathy R., Cloonan, Lisa, Falcone, Guido J., Radmanesh, Farid, Fitzpatrick, Kaitlin, Kanakis, Allison, Rothwell, Peter M., Sudlow, Cathie, Boncoraglio, Giorgio B., Meschia, James F., Levi, Chris, Dichgans, Martin, Bevan, Steve, Rosand, Jonathan, Rost, Natalia S., and Markus, Hugh S.

Published
2015
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22. Risks of Multisystem Medical and Psychiatric Comorbidities in Mild and Moderate/Severe Traumatic Brain Injury Patients Compared to non-Head Ortho Trauma and Healthy Control (4554)

Author

Tahir, Zabreen, primary, Radmanesh, Farid, additional, Grashow, Rachel, additional, Yahya, Taha, additional, Li, Winnie, additional, Snider, Samuel, additional, Saglam, Hanife, additional, El Hassan, Hadi Abou, additional, Izzy, Saef, additional, and Zafonte, Ross, additional

Published
2021
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28. 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

29. Additional file 2: of Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Author

Prins, Bram, Mead, Timothy, Brody, Jennifer, Gardar Sveinbjornsson, Ntalla, Ioanna, Bihlmeyer, Nathan, Berg, Marten Van Den, Bork-Jensen, Jette, Cappellani, Stefania, Duijvenboden, Stefan Van, Klena, Nikolai, Gabriel, George, Xiaoqin Liu, Cagri Gulec, Grarup, Niels, Haessler, Jeffrey, Hall, Leanne, Iorio, Annamaria, Isaacs, Aaron, Ruifang Li-Gao, Honghuang Lin, Ching-Ti Liu, Leo-Pekka LyytikäInen, Marten, Jonathan, Mei, Hao, Mßller-Nurasyid, Martina, Orini, Michele, Sandosh Padmanabhan, Radmanesh, Farid, Ramirez, Julia, Robino, Antonietta, Schwartz, Molly, Setten, Jessica Van, Smith, Albert, Verweij, Niek, Warren, Helen, Weiss, Stefan, Alonso, Alvaro, Arnar, David, Bots, Michiel, Boer, Rudolf De, Dominiczak, Anna, Eijgelsheim, Mark, Ellinor, Patrick, Xiuqing Guo, Felix, Stephan, Harris, Tamara, Hayward, Caroline, Heckbert, Susan, Huang, Paul, J. Jukema, KäHÜnen, Mika, Kors, Jan, Lambiase, Pier, Launer, Lenore, Li, Man, Linneberg, Allan, Nelson, Christopher, Pedersen, Oluf, Perez, Marco, Peters, Annette, Polasek, Ozren, Psaty, Bruce, Raitakari, Olli, Rice, Kenneth, Rotter, Jerome, Sinner, Moritz, Elsayed Soliman, Spector, Tim, Strauch, Konstantin, Thorsteinsdottir, Unnur, Tinker, Andrew, Trompet, Stella, AndrÊ Uitterlinden, Vaartjes, Ilonca, Meer, Peter Van Der, VÜlker, Uwe, VÜlzke, Henry, Waldenberger, Melanie, Wilson, James, Zhijun Xie, Asselbergs, Folkert, DÜrr, Marcus, Duijn, Cornelia Van, Gasparini, Paolo, Gudbjartsson, Daniel, Gudnason, Vilmundur, Hansen, Torben, KääB, Stefan, JøRgen Kanters, Kooperberg, Charles, LehtimäKi, Terho, Lin, Henry, Lubitz, Steven, Mook-Kanamori, Dennis, Conti, Francesco, Newton-Cheh, Christopher, Rosand, Jonathan, Rudan, Igor, Nilesh Samani, Sinagra, Gianfranco, Smith, Blair, Holm, Hilma, Stricker, Bruno, Ulivi, Sheila, Sotoodehnia, Nona, Suneel Apte, Harst, Pim Van Der, Stefansson, Kari, Munroe, Patricia, Arking, Dan, Lo, Cecilia, and Yalda Jamshidi

Abstract

Figure S1. Manhattan plot for European and African-American ancestry single variant analysis. Figure S2. Quantile-quantile plot for European and African-American ancestry single variant analysis. Figure S3. Manhattan plot for EA single variant analysis. Figure S4. QQ plot for EA single variant analysis. Figure S5. Manhattan plot for AA single variant analysis. Figure S6. Quantile-quantile plot for AA single variant analysis. Figure S7. Miami plot European and African-American ancestry sex-stratified single variant analysis. Figure S8. Quantile-quantile plots for European and African-American ancestry sex-stratified single variant analyses. Figure S9. Normal morphology of adult Adamts6 heterozygous hearts. (DOCX 4290 kb)

Published
2018
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30. Congenital spinal tumor in a patient with encephalocele and hydrocephalus: a case report

Author

Mahjoub Fatemeh, Nejat Farideh, Radmanesh Farid, and El Khashab Mostafa

Subjects
Medicine
Abstract

Abstract Introduction Encephalocele is a rare congenital abnormality of the central nervous system, where brain tissue protrudes from a defect in the skull. Some anomalies are associated with encephalocele. However, the association of spinal teratoma and encephalocele has not been reported in the English literature. Case presentation We report the case of an Iranian girl with a history of encephalocele surgery, who, at the age of four years, developed an intramedullary spinal teratoma, and discuss the pathogenesis of this association. Conclusion To the best of our knowledge, this is the first report of an association between encephalocele and spinal teratoma.

Published
2011
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32. Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

Author

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, R V R Horimoto, Andrea, Perez, Marco, Sinisalo, Juha, Aeschbacher, Stefanie, Thériault, Sébastien, Yao, Jie, Radmanesh, Farid, Weiss, Stefan, Teumer, Alexander, Choi, Seung Hoan, Weng, Lu-Chen, Clauss, Sebastian, Deo, Rajat, Rader, Daniel J, Shah, Svati H, Sun, Albert, Hopewell, Jemma C, Debette, Stephanie, Chauhan, Ganesh, Yang, Qiong, Worrall, Bradford B, Paré, Guillaume, Kamatani, Yoichiro, Hagemeijer, Yanick P, Verweij, Niek, 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, Anderson, Christopher D, Taylor, Kent D, Campbell, Archie, Magnusson, Patrik K, Porteous, David, Hocking, Lynne J, Vlachopoulou, Efthymia, Pedersen, Nancy L, Nikus, Kjell, Orho-Melander, Marju, Hamsten, Anders, Heeringa, Jan, Denny, Joshua C, Kriebel, Jennifer, Darbar, Dawood, Newton-Cheh, Christopher, Shaffer, Christian, Macfarlane, Peter W, Heilmann-Heimbach, 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, METASTROKE Consortium of the ISGC, Neurology Working Group of the CHARGE Consortium, Dichgans, Martin, Ingelsson, Erik, Kooperberg, Charles, Melander, Olle, J F Loos, Ruth, Laurikka, Jari, Conen, David, Rosand, Jonathan, van der Harst, Pim, 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, Kääb, Stefan, Chasman, Daniel I, Heckbert, Susan R, Benjamin, Emelia J, Tanaka, Toshihiro, Lunetta, Kathryn L, Lubitz, Steven A, Ellinor, Patrick T, and AFGen Consortium

Subjects
Genetics, Journal Article, Medizin, Article
Abstract

Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death.1,2 Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups.3–7 To further define the genetic basis of atrial fibrillation, we performed large-scale, multi-racial meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 18,398 individuals with atrial fibrillation and 91,536 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,806 cases and 132,612 referents. We identified 12 novel genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate new potential targets for drug discovery.8

Published
2017

33. 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

34. 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

35. 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

36. Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval

Author

Lin, Honghuang, primary, van Setten, Jessica, additional, Smith, Albert V., additional, Bihlmeyer, Nathan A., additional, Warren, Helen R., additional, Brody, Jennifer A., additional, Radmanesh, Farid, additional, Hall, Leanne, additional, Grarup, Niels, additional, Müller-Nurasyid, Martina, additional, Boutin, Thibaud, additional, Verweij, Niek, additional, Lin, Henry J., additional, Li-Gao, Ruifang, additional, van den Berg, Marten E., additional, Marten, Jonathan, additional, Weiss, Stefan, additional, Prins, Bram P., additional, Haessler, Jeffrey, additional, Lyytikäinen, Leo-Pekka, additional, Mei, Hao, additional, Harris, Tamara B., additional, Launer, Lenore J., additional, Li, Man, additional, Alonso, Alvaro, additional, Soliman, Elsayed Z., additional, Connell, John M., additional, Huang, Paul L., additional, Weng, Lu-Chen, additional, Jameson, Heather S., additional, Hucker, William, additional, Hanley, Alan, additional, Tucker, Nathan R., additional, Chen, Yii-Der Ida, additional, Bis, Joshua C., additional, Rice, Kenneth M., additional, Sitlani, Colleen M., additional, Kors, Jan A., additional, Xie, Zhijun, additional, Wen, Chengping, additional, Magnani, Jared W., additional, Nelson, Christopher P., additional, Kanters, Jørgen K., additional, Sinner, Moritz F., additional, Strauch, Konstantin, additional, Peters, Annette, additional, Waldenberger, Melanie, additional, Meitinger, Thomas, additional, Bork-Jensen, Jette, additional, Pedersen, Oluf, additional, Linneberg, Allan, additional, Rudan, Igor, additional, de Boer, Rudolf A., additional, van der Meer, Peter, additional, Yao, Jie, additional, Guo, Xiuqing, additional, Taylor, Kent D., additional, Sotoodehnia, Nona, additional, Rotter, Jerome I., additional, Mook-Kanamori, Dennis O., additional, Trompet, Stella, additional, Rivadeneira, Fernando, additional, Uitterlinden, André, additional, Eijgelsheim, Mark, additional, Padmanabhan, Sandosh, additional, Smith, Blair H., additional, Völzke, Henry, additional, Felix, Stephan B., additional, Homuth, Georg, additional, Völker, Uwe, additional, Mangino, Massimo, additional, Spector, Timothy D., additional, Bots, Michiel L., additional, Perez, Marco, additional, Kähönen, Mika, additional, Raitakari, Olli T., additional, Gudnason, Vilmundur, additional, Arking, Dan E., additional, Munroe, Patricia B., additional, Psaty, Bruce M., additional, van Duijn, Cornelia M., additional, Benjamin, Emelia J., additional, Rosand, Jonathan, additional, Samani, Nilesh J., additional, Hansen, Torben, additional, Kääb, Stefan, additional, Polasek, Ozren, additional, van der Harst, Pim, additional, Heckbert, Susan R., additional, Jukema, J. Wouter, additional, Stricker, Bruno H., additional, Hayward, Caroline, additional, Dörr, Marcus, additional, Jamshidi, Yalda, additional, Asselbergs, Folkert W., additional, Kooperberg, Charles, additional, Lehtimäki, Terho, additional, Wilson, James G., additional, Ellinor, Patrick T., additional, Lubitz, Steven A., additional, and Isaacs, Aaron, additional

Published
2018
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37. 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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38. 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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39. Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke

Author

Traylor, Matthew, primary, Zhang, Cathy R., additional, Adib-Samii, Poneh, additional, Devan, William J., additional, Parsons, Owen E., additional, Lanfranconi, Silvia, additional, Gregory, Sarah, additional, Cloonan, Lisa, additional, Falcone, Guido J., additional, Radmanesh, Farid, additional, Fitzpatrick, Kaitlin, additional, Kanakis, Allison, additional, Barrick, Thomas R., additional, Moynihan, Barry, additional, Lewis, Cathryn M., additional, Boncoraglio, Giorgio B., additional, Lemmens, Robin, additional, Thijs, Vincent, additional, Sudlow, Cathie, additional, Wardlaw, Joanna, additional, Rothwell, Peter M., additional, Meschia, James F., additional, Worrall, Bradford B., additional, Levi, Christopher, additional, Bevan, Steve, additional, Furie, Karen L., additional, Dichgans, Martin, additional, Rosand, Jonathan, additional, Markus, Hugh S., additional, and Rost, Natalia, additional

Published
2015
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40. 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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41. 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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43. APOE ε variants increase risk of warfarin-related intracerebral hemorrhage

Author

Falcone, Guido J., primary, Radmanesh, Farid, additional, Brouwers, H. Bart, additional, Battey, Thomas W.K., additional, Devan, William J., additional, Valant, Valerie, additional, Raffeld, Miriam R., additional, Chitsike, Lennox P., additional, Ayres, Alison M., additional, Schwab, Kristin, additional, Goldstein, Joshua N., additional, Viswanathan, Anand, additional, Greenberg, Steven M., additional, Selim, Magdy, additional, Meschia, James F., additional, Brown, Devin L., additional, Worrall, Bradford B., additional, Silliman, Scott L., additional, Tirschwell, David L., additional, Flaherty, Matthew L., additional, Martini, Sharyl R., additional, Deka, Ranjan, additional, Biffi, Alessandro, additional, Kraft, Peter, additional, Woo, Daniel, additional, Rosand, Jonathan, additional, and Anderson, Christopher D., additional

Published
2014
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44. Predictors of the CT Angiography Spot Sign in Deep and Lobar Intracerebral Hemorrhage (P5.143)

Author

Radmanesh, Farid, primary, Falcone, Guido, additional, Anderson, Christopher, additional, Battey, Thomas, additional, Ayres, Alison, additional, Vashkevich, Anastasia, additional, Schwab, Kristin, additional, Romero, Javier, additional, Viswanathan, Anand, additional, Greenberg, Steven, additional, Goldstein, Joshua, additional, Rosand, Jonathan, additional, and Brouwers, H. Bart, additional

Published
2014
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45. 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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46. Abstract W P257: Predictors of the CT Angiography Spot Sign in Deep and Lobar Intracerebral Hemorrhage

Author

Radmanesh, Farid, primary, Falcone, Guido J, additional, Anderson, Christopher D, additional, Battey, Thomas W, additional, Ayres, Alison M, additional, Vashkevich, Anastasia, additional, Schwab, Kristin, additional, Romero, Javier M, additional, Viswanathan, Anand, additional, Greenberg, Steven M, additional, Goldstein, Joshua N, additional, Rosand, Jonathan, additional, and Brouwers, H. B, additional

Published
2014
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47. 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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48. Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Author

Radmanesh, Farid, primary, Caglayan, Ahmet Okay, additional, Silhavy, Jennifer L., additional, Yilmaz, Cahide, additional, Cantagrel, Vincent, additional, Omar, Tarek, additional, Rosti, Başak, additional, Kaymakcalan, Hande, additional, Gabriel, Stacey, additional, Li, Mingfeng, additional, Šestan, Nenad, additional, Bilguvar, Kaya, additional, Dobyns, William B., additional, Zaki, Maha S., additional, Gunel, Murat, additional, and Gleeson, Joseph G., additional

Published
2013
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49. Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.

Author

Traylor, Matthew, Zhang, Cathy R., Adib-Samii, Poneh, Devan, William J., Parsons, Owen E., Lanfranconi, Silvia, Gregory, Sarah, Cloonan, Lisa, Falcone, Guido J., Radmanesh, Farid, Fitzpatrick, Kaitlin, Kanakis, Allison, Barrick, Thomas R., Moynihan, Barry, Lewis, Cathryn M., Boncoraglio, Giorgio B., Lemmens, Robin, Thijs, Vincent, Sudlow, Cathie, and Wardlaw, Joanna

Published
2016
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