Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease
Main findingResult — go to the resultOdds ratio 0.90 95% CI 0.67–1.22Authors' conclusion
Elevated HDL-C due to genetically compromised SR-BI function is not a marker of CAD risk.
Study context
- Population
- Icelanders (whole-genome sequenced resource)HDL cholesterol (HDL-C) analysis
- Participants
- 136,672 participants
- Comparison
- HDL-C-raising SCARB1 mutation carriers vs non-carriers
- Outcome
- Association of SCARB1 HDL-C-raising alleles with HDL-C and CAD risk
Methodological detailswhole-genome sequencing, case-control
- Whole-genome sequencing
- Case-control
Main finding
As reported in the abstract
Odds ratio
0.90
95% CI 0.67–1.22
P = 0.49
p.G319V, p.V111M, p.V32M carriersvs Non-carriers
OR 0.90 (95% CI 0.67–1.22); P = 0.49
- p.G319V HDL-C β = 11.1 mg/dL
- P = 8.0 × 10-7
- p.V111M HDL-C β = 8.3 mg/dL
- P = 1.1 × 10-6
- p.V32M HDL-C β = 10.2 mg/dL
- P = 8.1 × 10-4
Observational data: associations, not effects.
Further findings
Common non-coding SCARB1 variants and low-frequency p.V135I
- rs61941676-C HDL-C β = 1.25 mg/dL
- P = 1.7 × 10-18
- HDL-C-raising alleles do not confer increased coronary artery disease (CAD) risk
Original publication
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease. Eur Heart J. Published 27 March 2018. doi:10.
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