Prevention & lipidsDiagnostic or prognostic study
Integration of a polygenic score into clinical risk prediction of atherosclerotic cardiovascular disease in familial hypercholesterolaemia
- Prognostic cohort study
- longitudinal
- 3 independent cohorts
Authors' conclusion
Overall, the addition of polygenic information using PRSCAD percentiles to the FH-Risk-Score estimate did not significantly enhance ASCVD risk prediction in patients with FH.
Study context
- Population
- Patients with familial hypercholesterolaemia (familial hypercholesterolemia (FH))
- Participants
- 1,438 patients · 3 cohorts
- Comparison
- FH-Risk-Score plus PRSCAD vs FH-Risk-Score alone
- Outcome
- Atherosclerotic cardiovascular disease (ASCVD) risk prediction: discrimination (C-index), calibration and reclassification (10-year risk cutoff 20%)
- Follow-up
- 10 years
Performance
As reported in the abstract
C-index
FH-Risk-Score
0.746
C-index
Combined score
0.750
C-index
P = 0.60
Further findings
| Outcome | HR (95% CI) | P value | |
|---|---|---|---|
| ASCVD event rate, high PRSCAD (>75th percentile) vs not · event rate 15% vs. 9% | 1.77 (1.20–2.61) | P = 0.004 | |
| ASCVD event rate, high PRSCAD vs not, genetically confirmed FH (subgroup) · event rate 17% vs. 8% | 2.34 (1.50–3.67) | P = 0.0002 | |
| 0.20.5125Hazard ratio (log scale) |
C-index
| Outcome | Combined score | FH-Risk-Score | Estimate | P value |
|---|---|---|---|---|
| C-index, genetically confirmed FH in moderate FH-Risk-Score group (subgroup) | 0.717 | 0.617 | P = 0.05 |
Original publication
Integration of a polygenic score into clinical risk prediction of atherosclerotic cardiovascular disease in familial hypercholesterolaemia. Eur J Prev Cardiol. Published 15 April 2026. doi:10.1093/eurjpc/zwag203
Summarised from the published abstract; every number is checked against it