Evidence map›Paper›PMID 26392438›Full record

Observational studyEuropean heart journal2016

Risk prediction by genetic risk scores for coronary heart disease is independent of self-reported family history.

Hayato Tada, Olle Melander, Judy Z Louie, Joseph J Catanese, Charles M Rowland, James J Devlin, Sekar Kathiresan, Dov Shiffman

Open access · hybridAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in European heart journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 136 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed, 5 pooled it
19.3field-weighted citation impact, top 1% 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

136 citing papers in PubMed, 5 syntheses or guidelines pooled it, 295 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Genomic prediction of coronary heart disease.European heart journal · 2016
    Pooled it
  6. Trial
  7. Trial
  8. Review
  9. Article
  10. Genomics in Health and Biomedicine.Advances in experimental medicine and biology · 2026
    Review
  11. Article
  12. Article
  13. Comparison of coronary artery disease involvement in patients with or without familial history.American heart journal plus : cardiology research and practice · 2025
    Article
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Review
  20. Review

76 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 3 institutions in 2 countries.

Hayato TadaCenter for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA Department of Medicine, Harvard Medical School, Boston, MA, USA.
Olle MelanderDepartment of Clinical Sciences, Lund University, Malmö, Sweden Department of Internal Medicine, Skåne University Hospital, Malmö, Sweden olle.melander@med.lu.se sekar@broad.mit.edu dov.shiffman@questdiagnostics.com.
Judy Z LouieQuest Diagnostics, Alameda, CA, USA.
Joseph J CataneseQuest Diagnostics, Alameda, CA, USA.
Charles M RowlandQuest Diagnostics, Alameda, CA, USA.
James J DevlinQuest Diagnostics, Alameda, CA, USA.
Sekar KathiresanCenter for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA Department of Medicine, Harvard Medical School, Boston, MA, USA olle.melander@med.lu.se sekar@broad.mit.edu dov.shiffman@questdiagnostics.com.
Dov ShiffmanQuest Diagnostics, Alameda, CA, USA olle.melander@med.lu.se sekar@broad.mit.edu dov.shiffman@questdiagnostics.com.
Quest Diagnostics (United States) · USBroad Institute · USSkåne University Hospital · SE

Funding

Using genetic variation to study biology of blood lipids & coronary heart diseaseR01HL127564 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Pradeep Natarajan, Gina Marie Peloso · 2015 to 2026
$7.3M
European Research Council 282255NHLBI NIH HHS R01 HL127564
6 · The paper itself

Abstract

aimsGenetic risk scores (GRSs) have been associated with coronary heart disease (CHD) in large studies. We asked whether expanding an established 27-variant GRS (GRS27) to a 50-variant GRS (GRS50) improved CHD prediction and whether GRSs are independent of self-reported family history of CHD. METHODS AND

resultsThe association between GRSs and incident CHD was assessed in Cox models adjusting for established risk factors in 23 595 participants of the Malmö Diet and Cancer study--a prospective, population-based study. During a median follow-up of 14.4 years, 2213 participants experienced a first CHD event. After adjustment for established risk factors, both GRS27 and GRS50 were associated with incident CHD [hazard ratio (HR) = 1.70 for high (top quintile) vs. low (bottom quintile) of GRS27; 95% confidence interval (CI): 1.48-1.94; Ptrend = 1.6 × 10(-15) and HR = 1.92 for GRS50; 95% CI: 1.67-2.20; Ptrend = 6.2 × 10(-22)]. Adding 23 single nucleotide polymorphisms (SNPs) to GRS27 improved risk prediction (P = 3 × 10(-6)). Further adjustment for self-reported family history did not appreciably change the risk estimates of either GRS27 (HR = 1.65; 95% CI: 1.45-1.89) or GRS50 (HR = 1.87; 95% CI: 1.63-2.14). The addition of GRS50 to established risk factors, including self-reported family history, improved discrimination (P < 0.0001) and reclassification (continuous net reclassification improvement index = 0.17, P < 0.0001). In young participants (below median age), those with high GRS50 had 2.4-fold greater risk (95% CI: 1.85-3.12) than those with low GRS50.

conclusionThe addition of 23 SNPs to an existing GRS27 improved CHD risk prediction and was independent of self-reported family history. Coronary heart disease risk assessment by GRS could be particularly useful in young individuals.

Indexed as

AgedAge DistributionCoronary Artery DiseaseEpidemiologic MethodsFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPedigreePolymorphism, Single NucleotideSwedenCoronary heart disease riskGenetic risk scores

Identifiers

PMID26392438
PMCPMC4744619
OpenAlexW1874197506

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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.