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Large-scale association analysis identifies new risk loci for coronary artery disease
Panos Deloukas, Stavroula Kanoni, Christina Willenborg, Martin Farrall, Themistocles L. Assimes, John R. Thompson, Erik Ingelsson, Danish Saleheen, Jeanette Erdmann, Benjamin A. Goldstein, Kathleen Stirrups, Inke R. König, Jean‐Baptiste Cazier, Åsa Johansson, Alistair S. Hall, Jong‐Young Lee, Cristen J. Willer, John C. Chambers, Tõnu Esko, Lasse Folkersen, Anuj Goel, Elin Grundberg, Aki S. Havulinna, Weang-Kee Ho, Jemma C. Hopewell, Niclas Eriksson, Marcus E. Kleber, Kati Kristiansson, Per Lundmark, Leo‐Pekka Lyytikäinen, Suzanne Rafelt, Dmitry Shungin, Rona J. Strawbridge, Guðmar Þorleifsson, Emmi Tikkanen, Natalie Van Zuydam, Benjamin F. Voight, Lindsay L. Waite, Weihua Zhang, Andreas Ziegler, Devin Absher, David Altshuler, Anthony J. Balmforth, Inês Barroso, Peter S. Braund, Christof Burgdorf, David Cox, Maria Dimitriou, Ron Do, Alex S. F. Doney, NourEddine El Mokhtari, Per Eriksson, Krista Fischer, Pierre Fontanillas, Anders Franco‐Cereceda, Bruna Gigante, Stefan Gustafsson, Jörg Hager, Göran Hallmans, Bok-Ghee Han, Sarah Hunt, Hyun Min Kang, Thomas Illig, Thorsten Kessler, Genovefa Kolovou, Johanna Kuusisto, Claudia Langenberg, Cordelia Langford, Karin Leander, Marja‐Liisa Lokki, Anders Lundmark, Mark I. McCarthy, Christa Meisinger, Olle Melander, Evelin Mihailov, Seraya Maouche, Andrew D. Morris, Martina Müller‐Nurasyid, Kjell Nikus, John F. Peden, Nigel W. Rayner, Asif Rasheed, Silke Rosinger, Deborah C. Rubin, Moritz Rumpf, Arne Schäfer, Mohan U. Sivananthan, Ci Song, Alexandre F.R. Stewart, Sian-Tsung Tan, Guðmundur Þorgeirsson, C. Ellen van der Schoot, Peter J. Wagner, George A. Wells, Philipp S. Wild, Tsun-Po Yang, Philippe Amouyel, Dominique Arveiler, Hanneke Basart, Michael Boehnke, Eric Boerwinkle, Paolo Brambilla, François Cambien, L. Adrienne Cupples, Ulf dé Fairé, Abbas Dehghan, Patrick Diemert, Stephen E. Epstein, Alun Evans, Maurizio Ferrario, Jean Ferrières, Dominique Gauguier, Alan S. Go, Alison H. Goodall, Stanley L. Hazen, Hilma Hólm, Carlos Iribarren, Yangsoo Jang, Mika Kähönen, Frank Kee, Hyo‐Soo Kim, Norman Klopp, Wolfgang Köenig, Wolfgang Kratzer, Kari Kuulasmaa, Markku Laakso, Reijo Laaksonen, Ji‐Young Lee, Lars Lind, Willem H. Ouwehand, Sarah Parish, Jeong E. Park, Nancy L. Pedersen, Annette Peters, Thomas Quertermous, Daniel J. Rader, Veikko Salomaa, Eric E. Schadt, Svati H. Shah, Juha Sinisalo, Klaus Stark, Kāri Stefánsson, David‐Alexandre Trégouët, Jarmo Virtamo, Lars Wallentin, Nicholas J. Wareham, Martina E. Zimmermann, Markku S. Nieminen, Christian Hengstenberg, Manjinder S. Sandhu, Tomi Pastinen, Ann-Christine Syvänen, G. Kees Hovingh, George Dedoussis, Paul W. Franks, Terho Lehtimäki, Andres Metspalu, Pierre Zalloua, Agneta Siegbahn, Stefan Schreiber, Samuli Ripatti, Stefan S Blankenberg, Markus Perola, Robert Clarke, Bernhard O. Boehm, Christopher J. O’Donnell, Muredach P. Reilly, Winfried März, Rory Collins, Sekar Kathiresan, Anders Hamsten, Jaspal S. Kooner, Unnur Þorsteinsdóttir, John Danesh, Robert Roberts, Hugh Watkins, Heribert Schunkert, Nilesh J. Samani
Bibliographic record
VenueNature Genetics · 2012
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsMcGill UniversityUniversity of Ottawa
FundersNational Institute of Diabetes and Digestive and Kidney DiseasesMedical Research CouncilNational Heart, Lung, and Blood InstituteTerveyden ja hyvinvoinnin laitosUniversité de ToulouseQueen's UniversityCentre for Public Health, Queen's University BelfastUniversità degli Studi di Milano-BicoccaUniversité Pierre et Marie CurieQueen's University BelfastUniversité de StrasbourgInstitut National de la Santé et de la Recherche MédicaleUniversity of OxfordNational Institute for Health and Care ResearchBritish Heart FoundationWellcome TrustUniversity of Bern
KeywordsBiologyGenome-wide association studyCoronary artery diseaseGenetic associationSingle-nucleotide polymorphismGeneticsCADMissing heritability problemCandidate geneHeritabilityDiseaseBioinformaticsGeneInternal medicineMedicineGenotype
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)0.003
metaresearch head score (Gemma)0.007
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.003
Threshold uncertainty score0.017
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.003 | 0.007 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
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 head0.007
GPT teacher head0.270
Teacher spread0.262 · 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 designObservational
Domainnot available
GenreEmpirical
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
Citations1,669
Published2012
Admission routes2
Has abstractno