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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
F. David Carmona, Augusto Vaglio, Sarah Mackie, José Hernández‐Rodríguez, Paul A. Monach, Santos Castañeda, Roser Solans, Inmaculada C. Morado, Javier Narváez, Marc Ramentol-Sintas, Colin Pease, Bhaskar Dasgupta, Richard A. Watts, Nader Khalidi, Carol A. Langford, Steven R. Ytterberg, Luigi Boiardi, Lorenzo Beretta, Marcello Govoni, Giacomo Emmi, Francesco Bonatti, Marco A. Cimmino, Torsten Witte, Thomas Neumann, Julia U. Holle, Verena Schönau, L. Sailler, T. Papo, Julien Haroche, Alfred Mahr, Luc Mouthon, Øyvind Molberg, Andreas P. Diamantopoulos, Alexandre E. Voskuyl, Elisabeth Brouwer, Thomas Daikeler, Christoph T. Berger, Eamonn Molloy, Lorraine O’Neill, Daniël Blockmans, Benedicte A. Lie, Paul J. McLaren, Timothy J. Vyse, Cisca Wijmenga, Yannick Allanore, Bobby P. C. Koeleman, Jennifer H. Barrett, María C. Cid, Carlo Salvarani, Peter A. Merkel, Ann W Morgan, Miguel Á. González‐Gay, Javier Martı́n, José Luís Callejas-Rubio, Luis Caminal‐Montero, Marc Corbera‐Bellalta, Eugenio de Miguel, J. Bernardino Díaz López, María Jesús García-Villanueva, Carmen Gómez‐Vaquero, Mercedes Guijarro‐Rojas, Ana Hidalgo-Conde, Begoña Marí-Alfonso, Agustín Martínez Berriochoa, Aleida Martínez Zapico, Victor M. Martinez-Taboada, José A. Miranda‐Filloy, Jordi Monfort, Norberto Ortego‐Centeno, Mercedes Pérez-Conesa, Sergio Prieto‐González, Enrique Raya, Raquel Ríos-Fernández, Julio Sánchez-Martín, B. Sopeña, Laura Tío, Ainhoa Unzurrunzaga, Andrew Gough, John D. Isaacs, Michael R. Green, Neil McHugh, Lesley Hordon, Sanjeet Kamath, Mohammed Nisar, Yusuf Patel, Cee-Seng Yee, Robert C. Stevens, Pradip Nandi, Anupama Nandagudi, Stephen Jarrett, Zhongxia Li, Sarah Levy, Susan P. Mollan, Abdel Salih, Oliver Wordsworth, Emma Sanders, Esme Roads, Anne Gill, Lisa Carr, Christine Routledge, Karen Culfear, Asanka Nugaliyadde, Lynne James, Jenny Spimpolo, Andy Kempa, Felicity Mackenzie, Rosanna Fong, Genessa Peters, Bridie Rowbotham, Zahira Masqood, Jane Hollywood, Prisca Gondo, Rose Wood, Steve Martin, Lubna Rashid, James Robinson, Mike Morgan, Louise Sørensen, John Taylor, Simon Carette, Sharon A. Chung, David Cuthbertson, Lindsy Forbess, Ora Gewurz‐Singer, Gary S. Hoffman, Curry L. Koening, Kathleen Maksimowicz‐McKinnon, Carol A. McAlear, Larry W. Moreland, Christian Pagnoux, Philip Seo, Ulrich Specks, Robert Spiera, Antoine G. Sreih, Kenneth J. Warrington, Michael Weisman
Bibliographic record
VenueThe American Journal of Human Genetics · 2016
Typearticle
Languageen
FieldImmunology and Microbiology
TopicAtherosclerosis and Cardiovascular Diseases
Canadian institutionsMcMaster University
FundersCollege of Pharmacy, University of MichiganMedical Research CouncilNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNational Center for Research ResourcesJunta de AndalucíaRare Diseases Clinical Research NetworkMinisterio de Economía y CompetitividadInstituto de Salud Carlos IIINational Institute for Health and Care ResearchNational Center for Advancing Translational SciencesWellcome TrustUniversity of Michigan
KeywordsGiant cell arteritisGenome-wide association studyVasculitisAlleleBiologyImputation (statistics)Genetic associationGeneticsGenotypeGeneImmunologyMedicineDiseasePathologySingle-nucleotide polymorphism
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 distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.090
Threshold uncertainty score0.274
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 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 head0.204
Teacher spread0.196 · 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 teacher head, 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
Citations104
Published2016
Admission routes1
Has abstractno