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Genetics - Predisposition and Application to Primary Preventions of CAD

2021· article· en· W3198964163 on OpenAlexfundno aff
M.D. MACC Robert Roberts, Betty Fair, B.S. Danyael Murphy, Alison MacKenna Roberts

Bibliographic record

VenueInternational Journal of Innovative Research in Medical Science · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsnot available
FundersCanadian Institutes of Health Research
KeywordsCoronary artery diseaseGenetic predispositionMedicineRisk assessmentInternal medicineDiseaseFramingham Risk ScoreCADProspective cohort studyBioinformaticsBiology

Abstract

fetched live from OpenAlex

The risk of Coronary Artery Disease (CAD) has been recognized to be approximately 50% due to genetic predisposition and the remainder due to lifestyle and acquired causes. The first genetic risk variant was discovered in 2007 and since that time over 200 genetic risk variants predisposing to CAD have been discovered. These risk variants have been encrypted on to a microarray in preparation for their evaluation as a means to predict one’s risk for CAD. The Polygenic Risk Score (PRS) derived from these variants provides a single number for the total genetic risk burden. The PRS has been evaluated in several studies, totaling over 1 million individuals. Individuals categorized as high genetic risk for CAD based on PRS stratification show 2-3 fold increase risk for cardiac events. Retrospective analysis of several clinical trials showed lowering plasma LDL cholesterol is associated with decreased genetic risk and the frequency of cardiac events. A prospective study showed a favorable lifestyle to be associated with 47% reduction in the high genetic risk group and a similar reduction of 50% from physical activity in another prospective study. The PRS unlike acquired factors is not age-dependent but determined at conception and does not change throughout one’s lifetime. The several ethical, legal, and social implications associated with the clinical use of a PRS for CAD is fully discussed. The routine clinical application of the PRS for early primary prevention of CAD has the potential to be a paradigm shift in the prevention of this pandemic disease.

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)0.004
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.799
Threshold uncertainty score0.396

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0040.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
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 head0.036
GPT teacher head0.453
Teacher spread0.417 · 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 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

Citations0
Published2021
Admission routes1
Has abstractyes

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