← Back to cohort
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, F Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchâteau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil, Javier Lacunza, Daniela Giachino, Natascia Cerrato, Raphaël P. Martins, Óscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Héctor Barajas-Martínez, Britt Maria Beckmann, Ingrid P.C. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, M. Benjamin Shoemaker, Bas J. Boukens, Doris Škorić‐Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller‐Nurasyid, Konstantin Strauch, Annette Peters, Holger Schulz, Lars Schwettmann, Reiner Leidl, Margit Heier, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Éric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bezieau, Barry London, Jacob Tfelt‐Hansen, Dan M. Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G.A. Volders, Maarten P. van den Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean‐Marc Dupuis, Jean‐Luc Pasquié, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze‐Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Pascal Defaye, Frédéric Anselme, J P Darmon, François Wiart, Carlo de Asmundis, Pedro Brugada, Ramón Brugada, Elena Arbelo, Josép Brugada, Philippe Mabo, Nathalie Béhar, Carla Giustetto, María Sabater‐Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haı̈ssaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol Ann Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean‐Baptiste Gourraud, Michael W.T. Tanck, Alfred L. George, Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean‐Jacques Schott, Richard Redon, Connie R. Bezzina
Bibliographic record
VenueNature Genetics · 2022
Typereview
Languageen
FieldMedicine
TopicCardiac electrophysiology and arrhythmias
Canadian institutionsWestern UniversityUniversité de MontréalMontreal Heart Institute
FundersNational Institute of General Medical SciencesNational Human Genome Research InstituteMünchner Zentrum für GesundheitswissenschaftenHelmholtz Zentrum MünchenAmsterdam Cardiovascular Sciences, Amsterdam University Medical CentersNational Institutes of HealthUniversity College London Hospitals NHS Foundation TrustCentre National de la Recherche ScientifiqueFonds Wetenschappelijk OnderzoekHorizon 2020 Framework ProgrammeKU LeuvenFondation pour la Recherche MédicaleZonMwInstitut National de la Santé et de la Recherche MédicaleCHIST-ERAAgence Nationale de la RechercheFondation LeducqEuropean Society of CardiologyNational Heart, Lung, and Blood InstituteHealth~HollandEuropean CommissionAmerican Heart AssociationBroad InstituteHeart Rhythm SocietyDeutsches Zentrum für Herz-KreislaufforschungInnovirisFoundation for Cardiovascular ResearchBundesministerium für Bildung und ForschungNational Institute for Health and Care ResearchFédération Française de CardiologieBayerBritish Heart FoundationWellcome TrustHjerteforeningen
KeywordsBiologyBrugada syndromeGenome-wide association studyMechanism (biology)GeneticsDiseaseGenetic associationSodium channelComputational biologySingle-nucleotide polymorphismGeneGenotypeNeuroscienceInternal medicineSodium
Abstract
1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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)0.000
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Other design · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.784
Threshold uncertainty score1.000
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.001 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.002 |
| 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 head0.023
GPT teacher head0.321
Teacher spread0.298 · 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.
Study designOther design
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
Citations142
Published2022
Admission routes1
Has abstractyes