Evidence map›Paper›PMID 29596577›Full record

ArticleEuropean heart journal2018

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

Anna Helgadottir, Patrick Sulem, Gudmundur Thorgeirsson, Solveig Gretarsdottir, Gudmar Thorleifsson, Brynjar Ö Jensson, Gudny A Arnadottir, Isleifur Olafsson, Gudmundur I Eyjolfsson, Olof Sigurdardottir and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in European heart journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
7.3field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 71 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Epigenetic associations with kidney disease in individuals of African ancestry with APOL1 high-risk genotypes and HIV.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025
    Article
  6. Transcytosis of LDL Across Arterial Endothelium: Mechanisms and Therapeutic Targets.Arteriosclerosis, thrombosis, and vascular biology · 2025
    Review
  7. Role Analysis of theAnimals : an open access journal from MDPI · 2025
    Article
  8. Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Genomic Variants and Multilevel Regulation ofJournal of cardiovascular development and disease · 2021
    Review
  18. High Free Cholesterol Bioavailability Drives the Tissue Pathologies in Scarb1Arteriosclerosis, thrombosis, and vascular biology · 2021
    Article
  19. Cholesterol efflux pathways, inflammation, and atherosclerosis.Critical reviews in biochemistry and molecular biology · 2021
    Review
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors at 4 institutions in 1 country.

Anna HelgadottirdeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Patrick SulemdeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Gudmundur ThorgeirssondeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Solveig GretarsdottirdeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Gudmar ThorleifssondeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Brynjar Ö JenssondeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Gudny A ArnadottirdeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Isleifur OlafssonDepartment of Clinical Biochemistry, Landspitali, National University Hospital, Hringbraut, 101 Reykjavik, Iceland.
Gudmundur I EyjolfssonThe Laboratory in Mjodd, RAM, 109 Reykjavik, Iceland.
Olof SigurdardottirDepartment of Clinical Biochemistry, Akureyri Hospital, 600 Akureyri, Iceland.
Unnur ThorsteinsdottirdeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Daniel F GudbjartssondeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Hilma HolmdeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
Kari StefanssondeCODE Genetics/Amgen, Inc., Sturlugata 8, 101 Reykjavik, Iceland.
deCODE Genetics (Iceland) · ISUniversity of Iceland · ISAkureyri Hospital · ISNational University Hospital of Iceland · IS

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Aims: Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate with elevated HDL cholesterol (HDL-C) and increased risk of coronary artery disease (CAD), suggesting that increased HDL-C caused by SR-BI impairment might be an independent marker of cardiovascular risk. We tested the hypothesis that alleles in or close to SCARB1 that associate with elevated levels of HDL-C also associate with increased risk of CAD in the relatively homogeneous population of Iceland. Methods and results: Using a large resource of whole-genome sequenced Icelanders, we identified thirteen SCARB1 coding mutations that we examined for association with HDL-C (n = 136 672). Three rare SCARB1 mutations, encoding p.G319V, p.V111M, and p.V32M (combined allelic frequency = 0.2%) associate with elevated levels of HDL-C (p.G319V: β = 11.1 mg/dL, P = 8.0 × 10-7; p.V111M: β = 8.3 mg/dL, P = 1.1 × 10-6; p.V32M: β = 10.2 mg/dL, P = 8.1 × 10-4). These mutations do not associate with CAD (36 886 cases/306 268 controls) (odds ratio = 0.90, 95% confidence interval 0.67-1.22, P = 0.49), despite effects on HDL-C comparable to that reported for p.P376L, both in terms of direction and magnitude. Furthermore, HDL-C raising alleles of three common SCARB1 non-coding variants, including one previously unreported (rs61941676-C: β = 1.25 mg/dL, P = 1.7 × 10-18), and of one low frequency coding variant (p.V135I) that independently associate with higher HDL-C, do not confer increased risk of CAD. Conclusion: Elevated HDL-C due to genetically compromised SR-BI function is not a marker of CAD risk.

Indexed as

Cholesterol, HDLCoronary Artery DiseaseHumansIcelandLiverMutationScavenger Receptors, Class BCholesterol, HDLSCARB1 protein, humanScavenger Receptors, Class B

Identifiers

PMID29596577
PMCPMC6001888
OpenAlexW2794922331

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.