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Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Rainer Malik, Ganesh Chauhan, Matthew Traylor, Yukinori Okada, Aniket Mishra, Loes C.A. Rutten‐Jacobs, Sander W. van der Laan, Sólveig Grétarsdóttir, Christopher D. Anderson, Michael Chong, Hieab H.H. Adams, Tetsuro Ago, Peter Almgren, Philippe Amouyel, Hakan Ay, Traci M. Bartz, Oscar R. Benavente, Steve Bevan, Giorgio B. Boncoraglio, Robert D. Brown, Adam S. Butterworth, Caty Carrera, Cara L. Carty, Daniel I. Chasman, Wei‐Min Chen, John W. Cole, Adolfo Correa, Ioana Cotlarciuc, Carlos Cruchaga, John Danesh, Paul I. W. de Bakker, Anita L. DeStefano, Marcel den Hoed, Qing Duan, Stefan T. Engelter, Guido J. Falcone, Rebecca F. Gottesman, Raji P. Grewal, Vilmundur Guðnason, Jeffrey Haessler, Tamara B. Harris, Aki S. Havulinna, Susan R. Heckbert, Elizabeth G. Holliday, George Howard, Fang‐Chi Hsu, Hyacinth I. Hyacinth, M. Arfan Ikram, Erik Ingelsson, Marguerite R. Irvin, Xueqiu Jian, Jordi Jiménez‐Conde, Julie A. Johnson, J. Wouter Jukema, Masahiro Kanai, Keith L. Keene, Brett Kissela, Dawn Kleindorfer, Charles Kooperberg, Michiaki Kubo, Leslie A. Lange, Carl D. Langefeld, Claudia Langenberg, Lenore J. Launer, Jin‐Moo Lee, Robin Lemmens, Didier Leys, Cathryn M. Lewis, Wei‐Yu Lin, Erik Lorentzen, Patrik K. E. Magnusson, Jane Maguire, Ani Manichaikul, Patrick F. McArdle, James F. Meschia, Braxton D. Mitchell, Thomas H. Mosley, Michael A. Nalls, Toshiharu Ninomiya, Martin O’Donnell, Bruce M. Psaty, Sara L. Pulit, Kristiina Rannikmäe, Alex P. Reiner, Kathryn M. Rexrode, Kenneth Rice, Stephen S. Rich, Paul M. Ridker, Natalia S. Rost, Peter M. Rothwell, Jerome I. Rotter, Tatjana Rundek, Ralph L. Sacco, Saori Sakaue, Michèle M. Sale, Veikko Salomaa, Bishwa R. Sapkota, Reinhold Schmidt, Carsten Oliver Schmidt, Ulf Schminke, Pankaj Sharma, Agnieszka Slowik, Cathie Sudlow, Christian Tanislav, Turgut Tatlisumak, Kent D. Taylor, Vincent Thijs, Gudmar Thorleifsson, U. Thorsteinsdottir, Steffen Tiedt, Christophe Tzourio, Cornelia M. van Duijn, Matthew Walters, James G. Wilson, Kerri L. Wiggins, Qiong Yang, Salim Yusuf, Joshua C. Bis, Tomi Pastinen, Arno Ruusalepp, Eric E. Schadt, Simon Koplev, Johan Björkegren, Veronica Codoni, Mete Civelek, Nicholas Smith, David‐Alexandre Trégouët, Ingrid E. Christophersen, Carolina Roselli, Steven A. Lubitz, Patrick T. Ellinor, E. Shyong Tai, Jaspal S. Kooner, Norihiro Kato, Jiang He, Pim van der Harst, Paul Elliott, John C. Chambers, Fumihiko Takeuchi, Andrew D. Johnson, Daniel I. Chasman, Najaf Amin, Hugo J. Aparicio, Donna K. Arnett, John Attia, Alexa Beiser, Claudine Berr, Julie E. Buring, Mariana Bustamante, Valeria Caso, Yu‐Ching Cheng, Seung Hoan Choi, Ayesha Chowhan, Natàlia Cullell, Jean‐François Dartigues, Hossein Delavaran, Pilar Delgado, Marcus Dörr, Gunnar Engström, Ian Ford, Wander S. Gurpreet, Anders Hamsten, Laura Heitsch, Atsushi Hozawa, Laura Ibáñez, Andreea Ilinca, Martin Ingelsson, Motoki Iwasaki, Rebecca D. Jackson, Katarina Jood, Sara Kaffashian, Lalit Kalra, Masahiro Kamouchi, Takanari Kitazono, Ólafur Kjartansson, Manja Kloß, Peter J. Koudstaal, Jerzy Krupiński, Daniel Labovitz, Cathy C. Laurie, Christopher Levi, Linxin Li, Lars Lind, Cecilia M. Lindgren, Vasileios Lioutas, Yong Mei Liu, Oscar L. Lopez, Makoto Hirata, Nicolas Martinez‐Majander, Koichi Matsuda, Naoko Minegishi, Joan Montaner, Andrew P. Morris, Elena Muiño, Martina Müller‐Nurasyid, Bo Norrving, Soichi Ogishima, Eugenio Parati, Leema Reddy Peddareddygari, Nancy L. Pedersen, Joanna Pera, Markus Perola, Alessandro Pezzini, Silvana Pileggi, Raquel Rabionet, Iolanda Riba‐Llena, Marta Ribasés, José R. Romero, Jaume Roquer, Anthony G. Rudd, Antti-Pekka Sarin, Sarju Ralhan, Chloé Sarnowski, Makoto Sasaki, Claudia L. Satizábal, Mamoru Satoh, Naveed Sattar, Norie Sawada, Gerli Sibolt, Ásgeir Sigurðsson, Albert V. Smith, Kenji Sobue, Carolina Soriano‐Tárraga, Tara M. Stanne, O. Colin Stine, David J. Stott, Konstantin Strauch, Takako Takai, Hideo Tanaka, Kozo Tanno, Alexander Teumer, Liisa Tomppo, Nuria P. Torres‐Aguila, Emmanuel Touzé, Shoichiro Tsugane, André G. Uitterlinden, Einar Már Valdimarsson, Sven J. van der Lee, Henry Völzke, Kenji Wakai, David R. Weir, Stephen R. Williams, Charles Wolfe, Quenna Wong, Huichun Xu, Taiki Yamaji, Dharambir K. Sanghera, Christina Jern, Daniel Strbian, Israel Fernández‐Cadenas, W. T. Longstreth, Arndt Rolfs, Jun Hata, Daniel Woo, Jemma C. Hopewell, Danish Saleheen, Kari Stefansson, Steven J. Kittner, Sudha Seshadri, Myriam Fornage, Hugh S. Markus, Joanna M. M. Howson, Stéphanie Debette, Martin Dichgans
Bibliographic record
VenueNature Genetics · 2018
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill UniversityUniversity of British ColumbiaMcMaster UniversityPopulation Health Research Institute
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesNational Heart, Lung, and Blood InstituteNational Institute on AgingMedical Research CouncilNovo Nordisk FondenNational Center for Advancing Translational SciencesAgence Nationale de la RechercheNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesNational Institute for Health and Care ResearchBritish Heart FoundationSt. Jude MedicalBayer HealthCareBroad InstituteQuest DiagnosticsNational Institutes of HealthYale University
KeywordsGenome-wide association studyBiologyPleiotropyLinkage disequilibriumGenetic associationStroke (engine)GeneticsEtiologyBioinformaticsGeneAlleleInternal medicineSingle-nucleotide polymorphismHaplotypePhenotypeMedicineGenotype
Abstract
No abstract in any covered source. Its absence is recorded, not treated as a negative.
No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Meta-analysis · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.002
Threshold uncertainty score0.011
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.003 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.002 |
| Insufficient payload (model declined to judge) | 0.002 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
Opus teacher head0.016
GPT teacher head0.294
Teacher spread0.278 · how far apart the two teachers sit on this one work
Validation status
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
The models applied no category: nothing in the taxonomy fit this work.
Study designMeta-analysis
Domainnot available
GenreReview
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".
Quick stats
Citations1,726
Published2018
Admission routes1
Has abstractno