Evidence map›Paper›PMID 22151179›Full record

ArticleBMC cardiovascular disorders2011

Genotype-informed estimation of risk of coronary heart disease based on genome-wide association data linked to the electronic medical record.

Keyue Ding, Kent R Bailey, Iftikhar J Kullo

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in BMC cardiovascular disorders, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01936675 (Myocardial Infarction Genes), which is not on this map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
0.8field-weighted citation impact, top 25% 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.

NCT01936675 nacompletednot on this mapstarted 2013, after this paper: background citation

Myocardial Infarction Genes (MI-GENES) Study - Using Genomic Data to Refine Risk Assessment for Heart Attack

TypeinterventionalSponsorMayo ClinicRan2013 to 2014Enrolled216ConditionsCoronary Artery Disease, Myocardial Infarction, Genomic Risk CommunicationArmsGenetic Risk Score
3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 45 citations in OpenAlex.

  1. Trial
  2. Shared decision-making following disclosure of coronary heart disease genetic risk: results from a randomized clinical trial.Journal of investigative medicine : the official publication of the American Federation for Clinical Research · 2017
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  20. Cardiovascular Precision Medicine in the Genomics Era.JACC. Basic to translational science · 2018
    Review
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

3 authors at 3 institutions in 1 country.

Keyue DingDivision of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA.
Kent R Bailey
Iftikhar J Kullo
Mayo Clinic · USMayo Clinic in Arizona · USWinnMed · 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 HG05499NHGRI NIH HHS HG06379
6 · The paper itself

Abstract

backgroundSusceptibility variants identified by genome-wide association studies (GWAS) have modest effect sizes. Whether such variants provide incremental information in assessing risk for common 'complex' diseases is unclear. We investigated whether measured and imputed genotypes from a GWAS dataset linked to the electronic medical record alter estimates of coronary heart disease (CHD) risk.

methodsStudy participants (n = 1243) had no known cardiovascular disease and were considered to be at high, intermediate, or low 10-year risk of CHD based on the Framingham risk score (FRS) which includes age, sex, total and HDL cholesterol, blood pressure, diabetes, and smoking status. Of twelve SNPs identified in prior GWAS to be associated with CHD, four were genotyped in the participants as part of a GWAS. Genotypes for seven SNPs were imputed from HapMap CEU population using the program MACH. We calculated a multiplex genetic risk score for each patient based on the odds ratios of the susceptibility SNPs and incorporated this into the FRS.

resultsThe mean (SD) number of risk alleles was 12.31 (1.95), range 6-18. The mean (SD) of the weighted genetic risk score was 12.64 (2.05), range 5.75-18.20. The CHD genetic risk score was not correlated with the FRS (P = 0.78). After incorporating the genetic risk score into the FRS, a total of 380 individuals (30.6%) were reclassified into higher-(188) or lower-risk groups (192).

conclusionA genetic risk score based on measured/imputed genotypes at 11 susceptibility SNPs, led to significant reclassification in the 10-y CHD risk categories. Additional prospective studies are needed to assess accuracy and clinical utility of such reclassification.

Indexed as

Genome-Wide Association StudyGenotypePolymorphism, Single NucleotideAgedCohort StudiesCoronary DiseaseElectronic Health RecordsFemaleHumansMaleMiddle AgedRisk Factors

Identifiers

PMID22151179
PMCPMC3269823
OpenAlexW2009487735

What OpenQuestion holds

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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.