Prevention & lipidsCohort study

Integration of a polygenic score into guideline-recommended prediction of cardiovascular disease

Eur Heart JPublished

  • Cohort study
  • external replication

Authors' conclusion

This study demonstrates that absolute CVD risk, determined by a clinical risk score, and relative genetic risk, determined by a PRS, provide independent information.

Study context

Population
UK Biobank participants; replication in combined Framingham/ARIC populationsreplication n = 10,757
Participants
432,981 participants
Exposure
SCORE2 × polygenic risk score (PRS)-factor vs SCORE2 alone
Outcome
Incident CVD (coronary artery disease (CAD) or stroke); risk reclassification by the multiplicative model

Main finding

As reported in the abstract

Reclassification by SCORE2 × PRS-factor (UK Biobank)

Intermediate risk (n = 145 337) moved to high risk

9.55%

Increase in individuals at high risk

56.6%

Incident cardiovascular disease (CVD), reclassified intermediate to high risk

8.08%

Incident CVD, remained at intermediate risk

4.08%

Observational data: associations, not effects.

Further findings

Reclassification in Framingham/ARIC (replication)

Shifted from moderate to high risk
8.29%

Original publication

Integration of a polygenic score into guideline-recommended prediction of cardiovascular disease. Eur Heart J. Published 29 March 2024. doi:10.1093/eurheartj/ehae048

Summarised from the published abstract; every number is checked against it