Evidence map›Paper›PMID 41118400›Full record

ArticlePloS one2025

Development and validation of a risk prediction algorithm for high-risk populations combining genetic and conventional risk factors of cardiovascular disease.

Tuuli Puusepp, Ave Põld, Lili Milani, Aet Elken, Estonian Biobank Research Team, Mikk Jürisson, Krista Fischer

Abstract readValidation Study
In one paragraph

Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Trial
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.

Tuuli PuuseppInstitute of Mathematics and Statistics, University of Tartu.ORCID https://orcid.org/0000-0002-9998-1640
Ave PõldInstitute of Family Medicine and Public Health, University of Tartu.ORCID https://orcid.org/0000-0001-8188-4909
Lili MilaniInstitute of Genomics, University of Tartu.
Aet ElkenHeart Clinic, University of Tartu.
Estonian Biobank Research Team
Mikk JürissonInstitute of Family Medicine and Public Health, University of Tartu.ORCID https://orcid.org/0000-0002-4487-7045
Krista FischerInstitute of Mathematics and Statistics, University of Tartu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo develop a model for cardiovascular disease (CVD) risk, combining polygenic risk score (PRS) with traditional risk factors while assessing the added value of PRS in two cohorts of biobank participants.

methodsData of 128 209 participants from the Estonian Biobank recruited between 2002-2017 and 2018-2022 without prevalent cardiovascular disease, was included. Hazard ratios (HR) for polygenic risk versus conventional risk factors were estimated with Cox proportional hazards models, cumulative incidence was assessed with Aalen-Johansen curves. Predictive performance was tested using a split-sample approach and competing risk modelling. Age at CVD event served as the outcome, and the impact of the PRS was evaluated by age group (25-59 vs. 60+), sex, and recruitment period, using HRs, Harrell's C-index, and net reclassification indices (NRI).

resultsThe estimated HR per one standard deviation (SD) of PRS ranged from 1.1, 95% CI 1.06-1.15 (age 60 + , earlier cohort) to 1.36, 95% CI 1.24-1.49 (men 25-59, later cohort). Adding PRS to the conventional risk factors in the age group 25-59 increased the C-statistic by 0.028 (p < 0.0001) for men. In the age group 60 + , the increase was 0.016 (p = 0.0002) across all. In the independent validation set, the continuous NRI was 19.1% (95% CI 13.3%-24.9%) in the 25-59 group and 13.9% (95% CI 8.1%-19.6%) in the 60 + group.

conclusionsIn a high-risk population, PRS is a strong independent risk factor for CVD and should be considered in routine risk assessment, starting at a relatively young age.

Indexed as

AlgorithmsCardiovascular DiseasesAdultAgedEstoniaFemaleGenetic Predisposition to DiseaseHeart Disease Risk FactorsHumansMaleMiddle AgedPrediction AlgorithmsProportional Hazards ModelsRisk AssessmentRisk Factors

Identifiers

PMID41118400
PMCPMC12539690

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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.