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Record W4400025864 · doi:10.17615/ds6y-7f02

Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease

2024· article· en· W4400025864 on OpenAlexfundno aff
Alanna C. Morrison, Jacob A. Brody, Pim van der Harst, Ulrich Schotten, B. Mifsud, Maria Pina Concas, Philippe Charron, W.J Young, D.O. Mook-Kanamori, Casia Nursyifa, Pau Navarro, A Campbell, E.A. Whitsel, C. Hayward, R.D. Jackson, Dawood Darbar, Christina Ellervik, A.R. Baldassari, P.D. Lambiase, Luisa Foco, Hugh Watkins, Jan Walter Benjamins, C. Kooperberg, Niek Verweij, A.L.P. Ribeiro, J.W. Jukema, A. Correa, K.L. Wiggins, E. Tarazona-Santos, C. Pattaro, Sébastien Thériault, Ann Richmond, J.G. Wilson, Larisa G. Tereshchenko, J.I. Rotter, D.E. Arking, van Duijn, A. Tinker, Jie Yao, Xia Shen, J.F. Wilson, Anuj Goel, Allan Linneberg, Morten S. Olesen, P.P. Pramstaller, D. Conen, David J. Porteous, Abby Isaacs, Katerina Trajanoska, Jan A. Kors, H.J. Lin, C Fuchsberger, Torben Hansen, Fariba Ahmadizar, T.V. Duong, Jonas L. Isaksen, Christopher Grace, J. Haessler, G. Sinagra, A.P. Reiner, Sophie Garnier, Stella Trompet, Eric Villard, Alessandro De Luca, Maria Fernanda Lima‐Costa, M. Orini, Raymond Noordam, Lazzaro Repetto, Meddly L. Santolalla, E.Z. Soliman, N. Grarup, C.L. Avery, S. Padmanabhan, Stefanie Aeschbacher, Andrew R. Harper, Stefan van Duijvenboden, J.K. Kanters, Jean‐François Deleuze, C.M. Sitlani, Monika Stoll, Xiuqing Guo, Peter W. Macfarlane, Hao Mei, Álvaro Alonso, H.R. Warren, B.H. Stricker, Giorgia Girotto, P.B. Munroe, Lorenz Risch, Julia Ramírez, N. Sotoodehnia, B.M. Psaty, S.R. Heckbert, Negin Soroush

Bibliographic record

VenueUNC Libraries · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGene expression and cancer classification
Canadian institutionsnot available
FundersMedical Research CouncilNational Institutes of HealthNovo Nordisk FondenMinistério da SaúdeFonds de Recherche du Québec - SantéFundação de Amparo à Pesquisa do Estado de Minas GeraisFinanciadora de Estudos e ProjetosFogarty International CenterNational Heart, Lung, and Blood InstituteVetenskapsrådetConselho Nacional de Desenvolvimento Científico e TecnológicoZonMwUniversity College London Hospitals NHS Foundation TrustEuropean CommissionNovo NordiskNational Institute for Health and Care ResearchUK Research and InnovationQueen Mary University of LondonAmerican Heart Association
KeywordsGenetic architectureDiseaseCardiologyCardiac arrhythmiaInternal medicineMedicineAtrial fibrillationEnvironmental healthQuantitative trait locus

Abstract

fetched live from OpenAlex

The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk predictors for arrhythmia, but the underlying biology is unknown. Using multi-ancestry genome-wide association studies we identify 61 (58 previously unreported) loci for the spatial QRS-T angle (N = 118,780) and 11 for the frontal QRS-T angle (N = 159,715). Seven out of the 61 spatial QRS-T angle loci have not been reported for other electrocardiographic measures. Enrichments are observed in pathways related to cardiac and vascular development, muscle contraction, and hypertrophy. Pairwise genome-wide association studies with classical ECG traits identify shared genetic influences with PR interval and QRS duration. Phenome-wide scanning indicate associations with atrial fibrillation, atrioventricular block and arterial embolism and genetically determined QRS-T angle measures are associated with fascicular and bundle branch block (and also atrioventricular block for the frontal QRS-T angle). We identify potential biology involved in the QRS-T angle and their genetic relationships with cardiovascular traits and diseases, may inform future research and risk prediction.

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 imitation

Not 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)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: none
Teacher disagreement score0.601
Threshold uncertainty score0.293

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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 head0.009
GPT teacher head0.209
Teacher spread0.200 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designNot applicable
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

Citations0
Published2024
Admission routes1
Has abstractyes

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