Coronary disease & ACSCase-control study
RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction
- Case-control genome-wide association study
- 3 datasets
- replication dataset
Authors' conclusion
Results of this study suggest that vascular cell dysfunction mediated by variants in the RNF213 locus may promote coronary vasospasm, and the presence of the risk allele could serve as a predictive factor for the prognosis.
Study context
- Population
- Japanese patients, Biobank Japan (enrolled 2002–2008 and 2013–2018)3 datasets
- Participants
- 5,720 vs 153,864
- Comparison
- Vasospastic angina (VSA) cases vs controls without CAD
- Casesn = 5,720
- Controlsn = 153,864reference
- Outcome
- Genetic variants associated with VSA (VSA cases vs controls without CAD)
Main finding
Association of RNF213 locus variants with VSA
Odds ratio
2.34
95% CI 1.99–2.74
P = 4.4 × 10-25
RNF213 locus variants vs Controls
OR 2.34 (95% CI 1.99–2.74); P = 4.4 × 10-25
As reported in the abstract
Observational data: associations, not effects.
Further findings
| Outcome | Estimate | P value | |
|---|---|---|---|
| VSA in homozygous carriers of rs112735431 — Homozygous carriers of rs112735431 vs Controls · deviating from additive model | OR 18.34 (95% CI 5.15–65.22) | P = 7.0 × 10-6 | |
| VSA in homozygous carriers of rs112735431 — rs112735431 (additive model) vs Controls | OR 4.35 (95% CI 1.18–16.05) | P = 0.03 | |
| rs112735431 and VSA, stratified by sex and age (subgroup) | OR 3.06 (95% CI 2.24–4.19) | ||
| Mortality due to acute MI in carriers of rs112735431 without CAD (registry) · follow-up period | HR 2.71 (95% CI 1.57–4.65) | P = 3.3 × 10-4 | |
| 0.050.21520Ratio (log scale) |
- rs112735431 and VSA, stratified by sex and age (subgroup) — Stronger association in males (χ21 = 7.24)
- P = .007
Effect size of rs112735431 on VSA vs other CADs
- Effect size distinct from that of other CADs
Overlap between VSA and Moyamoya disease
- No possible overlap found
Original publication
RNF213 Variants, Vasospastic Angina, and Risk of Fatal Myocardial Infarction. JAMA Cardiol. Published 1 August 2024. doi:10.1001/jamacardio.2024.1483
Summarised from the published abstract; every number is checked against it