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Record W2777050540 · doi:10.1093/eurheartj/ehy474

A comprehensive evaluation of the genetic architecture of sudden cardiac arrest

2018· review· en· W2777050540 on OpenAlexafffund
Foram N. Ashar, Rebecca Mitchell, Christine M. Albert, Christopher Newton‐Cheh, Jennifer A. Brody, Martina Müller‐Nurasyid, Anna Moes, Thomas Meitinger, Angel C. Y. Mak, Heikki V. Huikuri, Juhani Junttila, Philippe Goyette, Sara L. Pulit, Raha Pazoki, Michael W.T. Tanck, Marieke T. Blom, Xiaoqing Zhao, Aki S. Havulinna, Reza Jabbari, Charlotte Glinge, Vinicius Tragante, Stefan Andersson Escher, Aravinda Chakravarti, Georg Ehret, Josef Coresh, Man Li, Ronald J. Prineas, Oscar H. Franco, Pui–Yan Kwok, Thomas Lumley, Florence Dumas, Barbara McKnight, Jerome I. Rotter, Rozenn N. Lemaître, Susan R. Heckbert, Christopher J. O’Donnell, Shih‐Jen Hwang, Jean‐Claude Tardif, Martin VanDenburgh, André G. Uitterlinden, Albert Hofman, Bruno H. Stricker, Paul I. W. de Bakker, Paul W. Franks, Jan‐Håkan Jansson, Folkert W. Asselbergs, Marc K. Halushka, Joseph J. Maleszewski, Jacob Tfelt‐Hansen, Thomas Engstrøm, Veikko Salomaa, Renu Virmani, Frank D. Kolodgie, Arthur A.M. Wilde, Hanno L. Tan, Connie R. Bezzina, Mark Eijgelsheim, John D. Rioux, Xavier Jouven, Stefan Kääb, Bruce M. Psaty, David S. Siscovick, Dan E. Arking, Nona Sotoodehnia

Bibliographic record

VenueEuropean Heart Journal · 2018
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsUniversité de MontréalMontreal Heart Institute
FundersNational Center for Advancing Translational SciencesNational Institute of Neurological Disorders and StrokeSociale en Geesteswetenschappen, NWONational Institute of Diabetes and Digestive and Kidney DiseasesNational Cancer InstituteNational Human Genome Research InstituteNational Heart, Lung, and Blood InstituteNational Institute on AgingNational Institutes of HealthNational Institute of General Medical SciencesFondation Institut de Cardiologie de MontréalCenter for Translational Molecular MedicineSydäntutkimussäätiöErasmus Medisch CentrumBundesministerium für Bildung und ForschungInstitut de Cardiologie de MontréalNovo Nordisk FondenAcademy of FinlandNational Research FoundationNational Center for Research ResourcesAgence Nationale de la RechercheFondation LeducqSchool of Medicine, Boston UniversityEuropean CommissionCollege ter Beoordeling van GeneesmiddelenUS-UK Fulbright CommissionFoundation for Cardiovascular ResearchRigshospitaletZonMwInstitut National de la Santé et de la Recherche MédicaleDanmarks GrundforskningsfondNederlandse Organisatie voor Wetenschappelijk OnderzoekU.S. Department of Agriculture
KeywordsMedicineSudden cardiac arrestGenetic architectureSudden cardiac deathCardiologyInternal medicineIntensive care medicineEnvironmental healthPopulation

Abstract

fetched live from OpenAlex

Aims: Sudden cardiac arrest (SCA) accounts for 10% of adult mortality in Western populations. We aim to identify potential loci associated with SCA and to identify risk factors causally associated with SCA. Methods and results: We carried out a large genome-wide association study (GWAS) for SCA (n = 3939 cases, 25 989 non-cases) to examine common variation genome-wide and in candidate arrhythmia genes. We also exploited Mendelian randomization (MR) methods using cross-trait multi-variant genetic risk score associations (GRSA) to assess causal relationships of 18 risk factors with SCA. No variants were associated with SCA at genome-wide significance, nor were common variants in candidate arrhythmia genes associated with SCA at nominal significance. Using cross-trait GRSA, we established genetic correlation between SCA and (i) coronary artery disease (CAD) and traditional CAD risk factors (blood pressure, lipids, and diabetes), (ii) height and BMI, and (iii) electrical instability traits (QT and atrial fibrillation), suggesting aetiologic roles for these traits in SCA risk. Conclusions: Our findings show that a comprehensive approach to the genetic architecture of SCA can shed light on the determinants of a complex life-threatening condition with multiple influencing factors in the general population. The results of this genetic analysis, both positive and negative findings, have implications for evaluating the genetic architecture of patients with a family history of SCA, and for efforts to prevent SCA in high-risk populations and the general community.

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)0.002
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: Review · Consensus signal: Review
Teacher disagreement score0.890
Threshold uncertainty score0.548

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.001
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 head0.088
GPT teacher head0.363
Teacher spread0.275 · 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
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

Citations89
Published2018
Admission routes2
Has abstractyes

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