Heart failure & cardiomyopathies
Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos
Authors' conclusion
The Val122Ile variant prevalence varied depending on AA proportions among H/Ls and was seen more commonly among Dominicans, highlighting opportunities for preventative hereditary transthyretin amyloid cardiomyopathy screening.
Study context
- Population
- Community-dwelling Hispanic/Latino adults (aged 18–74) who consented to genome-wide studies and continental ancestry ascertainmentH/L adults, echocardiograms analyzed among 6,376 Hispanics/Latinos ≥44 years
- Participants
- 12,687 adults
- Exposure
- Val122Ile carriers vs noncarriers
- Outcome
- Val122Ile variant prevalence
Methodological detailscomplex survey analysis, survey weights
- Complex survey analysis
- Survey weights
Main finding
As reported in the abstract
H/Ls carrying the Val122Ile variant
0.82%
H/Ls of Dominican descent (highest prevalence compared to other background groups)
2.60%
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | |
|---|---|---|
| Odds of Val122Ile variant per 1% increase in ancestry1% increase in AA · raised odds by 4% | 1.04 (1.03–1.06) | |
| Odds of Val122Ile variant per 1% increase in ancestry1% increase in EA · lowered odds by 3% | 0.97 (0.96–0.99) | |
| Odds of Val122Ile variant per 1% increase in ancestry1% increase in Amerindian ancestry · lowered odds by 2% | 0.98 (0.97–0.99) | |
| 0.512Odds ratio (log scale) |
| Outcome | Val122Ile carriers | Noncarriers | P value |
|---|---|---|---|
| Fraction of AAHigher fraction of AA in carriers | 0.38 | 0.15 | P < 0.0001 |
- Fraction of AA — Highest fraction of continental ancestry in carriers: EA
- 0.42 ± 0.04
Echocardiographic phenotype
- No differences observed in Val122Ile carriers vs noncarriers
Original publication
Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos. JACC Adv. Published 25 July 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →