Evidence map›Paper›PMID 36252120›Full record

ArticleCirculation. Genomic and precision medicine2022

Validation of Polygenic Risk Scores for Coronary Heart Disease in a Middle Eastern Cohort Using Whole Genome Sequencing.

Mohamad Saad, Ayman El-Menyar, Khalid Kunji, Ehsan Ullah, Jassim Al Suwaidi, Iftikhar J Kullo

Open access · hybridAbstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.4field-weighted citation impact, top 10% 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 15 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

6 authors at 3 institutions in 2 countries.

Mohamad Saad *Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar (M.S., K.K., E.U.).
Ayman El-Menyar *Hamad Medical Corporation, Doha, Qatar (A.E.-M., J.A.S.).ORCID 0000-0003-2584-953X
Khalid KunjiQatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar (M.S., K.K., E.U.).ORCID 0000-0003-2946-512X
Ehsan UllahQatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar (M.S., K.K., E.U.).ORCID 0000-0002-9881-6731
Jassim Al SuwaidiHamad Medical Corporation, Doha, Qatar (A.E.-M., J.A.S.).ORCID 0000-0002-5299-9106
Iftikhar J KulloDepartment of Cardiovascular Medicine, and the Gonda Vascular Center, Mayo Clinic, Rochester, MN (I.J.K.).ORCID 0000-0002-6524-3471
Hamad bin Khalifa University · QAHamad Medical Corporation · QAMayo Clinic · US

Funding

Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
NHGRI NIH HHS U01 HG006379
6 · The paper itself

Abstract

backgroundEnthusiasm for using polygenic risk scores (PRSs) in clinical practice is tempered by concerns about their portability to diverse ancestry groups, thus motivating genome-wide association studies in non-European ancestry cohorts.

methodsWe conducted a genome-wide association study for coronary heart disease in a Middle Eastern cohort using whole genome sequencing and assessed the performance of 6 PRSs developed with methods including LDpred (PGS000296), metaGRS (PGS000018), Pruning and Thresholding (PGS000337), and an EnsemblePRS we developed. Additionally, we evaluated the burden of rare variants in lipid genes in cases and controls. Whole genome sequencing at 30× coverage was performed in 1067 coronary heart disease cases (mean age=59 years; 70.3% males) and 6170 controls (mean age=40 years; 43.5% males).

resultsThe majority of PRSs performed well; odds ratio (OR) per 1 SD increase (OR

conclusionsOverall, we demonstrate that PRSs derived from European ancestry genome-wide association studies performed well in a Middle Eastern cohort, suggesting these could be used in the clinical setting while ancestry-specific PRSs are developed.

Indexed as

Coronary DiseaseProprotein Convertase 9AdultFemaleGenome-Wide Association StudyHumansMaleMiddle AgedRisk FactorsRNA-Binding ProteinsWhole Genome SequencingPCSK9 protein, humanProprotein Convertase 9RBM47 protein, humanRNA-Binding Proteinscoronary heart diseasediverse populationsMiddle Eastpolygenic risk scoreprecision medicinewhole genome sequencing

Identifiers

PMID36252120
PMCPMC9770120
OpenAlexW4304943774

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

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.