Evidence map›Paper›PMID 31184202›Full record

SynthesisCirculation. Genomic and precision medicine2019

Validation of Genome-Wide Polygenic Risk Scores for Coronary Artery Disease in French Canadians.

Florian Wünnemann, Ken Sin Lo, Alexandra Langford-Avelar, David Busseuil, Marie-Pierre Dubé, Jean-Claude Tardif, Guillaume Lettre

Registry-linked trialOpen access · greenAbstract readMeta-AnalysisValidation Study
In one paragraph

Synthesis in Circulation. Genomic and precision medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04932798 (Genetic Risk-Based Atrial Fibrillation Screening), which is not on this map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
9.0field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT04932798 unknown statusnot on this mapstarted 2021, after this paper: background citation

Genetic Risk-Based Atrial Fibrillation Screening

Typeobservational_patient_registrySponsorMontreal Heart InstituteRan2021 to 2026Enrolled726ConditionsGenetic Predisposition, Atrial FibrillationArmsResting ECG (if first visit is done on site only), 24-hour ambulatory electrocardiographic monitoring (Holter) (if first visit done on site only), 3-month AF detection monitoring using the Apple Watch
3 · Its place in the literature

Who cites it

37 citing papers in PubMed, 76 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Florian WünnemannMontreal Heart Institute (F.W., K.S.L., A.L.-A., D.B., M.-P.D., J.-C.T., G.L.), Université de Montréal, Québec, Canada.
Ken Sin LoMontreal Heart Institute (F.W., K.S.L., A.L.-A., D.B., M.-P.D., J.-C.T., G.L.), Université de Montréal, Québec, Canada.
Alexandra Langford-AvelarMontreal Heart Institute (F.W., K.S.L., A.L.-A., D.B., M.-P.D., J.-C.T., G.L.), Université de Montréal, Québec, Canada.
David BusseuilMontreal Heart Institute (F.W., K.S.L., A.L.-A., D.B., M.-P.D., J.-C.T., G.L.), Université de Montréal, Québec, Canada.
Marie-Pierre DubéMontreal Heart Institute (F.W., K.S.L., A.L.-A., D.B., M.-P.D., J.-C.T., G.L.), Université de Montréal, Québec, Canada.
Jean-Claude TardifMontreal Heart Institute (F.W., K.S.L., A.L.-A., D.B., M.-P.D., J.-C.T., G.L.), Université de Montréal, Québec, Canada.
Guillaume LettreMontreal Heart Institute (F.W., K.S.L., A.L.-A., D.B., M.-P.D., J.-C.T., G.L.), Université de Montréal, Québec, Canada.
Montreal Heart Institute · CA

Funding

CIHR MOP 136979
6 · The paper itself

Abstract

backgroundCoronary artery disease (CAD) represents one of the leading causes of morbidity and mortality worldwide. Given the healthcare risks and societal impacts associated with CAD, their clinical management would benefit from improved prevention and prediction tools. Polygenic risk scores (PRS) based on an individual's genome sequence are emerging as potentially powerful biomarkers to predict the risk to develop CAD. Two recently derived genome-wide PRS have shown high specificity and sensitivity to identify CAD cases in European-ancestry participants from the UK Biobank. However, validation of the PRS predictive power and transferability in other populations is now required to support their clinical utility.

methodsWe calculated both PRS (GPS

resultsOur results confirm the ability of both PRS to predict prevalent CAD comparable to the original reports (area under the curve=0.72-0.89). Furthermore, the PRS identified about 6% to 7% of individuals at CAD risk similar to carriers of the LDLR delta >15 kb mutation, consistent with previous estimates. However, the PRS did not perform as well in predicting an incident or recurrent CAD (area under the curve=0.56-0.60), maybe because of confounding because 76% of the participants were on statin treatment. This result suggests that additional work is warranted to better understand how ascertainment biases and study design impact PRS for CAD.

conclusionsCollectively, our results confirm that novel, genome-wide PRS is able to predict CAD in French Canadians; with further improvements, this is likely to pave the way towards more targeted strategies to predict and prevent CAD-related adverse events.

Indexed as

Genome-Wide Association StudyAgedBiomarkersCohort StudiesCoronary Artery DiseaseDatabases, GeneticFemaleGenetic Predisposition to DiseaseHeterozygoteHumansIncidenceMaleMiddle AgedMultifactorial InheritancePrevalenceQuebecBiomarkersLDLR protein, humanReceptors, LDLcoronary artery diseasegenetic variationhypercholesterolemiaprimary preventionrisk

Identifiers

PMID31184202
PMCPMC6587223
OpenAlexW2950814369

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.