Cohort study
Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers
- Pooled cohort study (cross-sectional and longitudinal analyses)
- multicohort
Authors' conclusion
A favorable CV RF profile lowers but does not abrogate V142I variant-associated heart failure risk.
Study context
- Population
- Self-identified Black individuals without prevalent HF from 6 TOPMed cohorts, REGARDS and All of Us587 (3.2%) V142I carriers
- Participants
- 18,407 individuals
- Exposure
- V142I carriers by cardiovascular (CV) RF profile vs noncarriers with favorable CV RF profile
- Outcome
- HF
Main finding
As reported in the abstract
Each group vs noncarriers, favorable profileAdjusted hazard ratio (95% CI)
Carriers, favorable profile
2.26(1.58–3.23)
Carriers, unfavorable profile
4.14(2.79–6.14)
Observational data: associations, not effects.
Further findings
Prevalence of CV risk factors (RFs) by V142I carrier status (cross-sectional, 1,625 carriers among 48,365)
- Prevalence of CV RFs did not vary by V142I carrier status
Original publication
Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers. JACC Heart Fail. Published 6 November 2024. doi:10.1016/j.jchf.2024.08.019
Summarised from the published abstract; every number is checked against it