Inherited Variants in SCARB1 Cause Severe Early-Onset Coronary Artery Disease

Circ Res. 2021 Jul 9;129(2):296-307. doi: 10.1161/CIRCRESAHA.120.318793. Epub 2021 May 12.

Abstract

[Figure: see text].

Keywords: cholesterol, high-density lipoprotein; coronary disease; dyslipidemia; genetics; human; physiology.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Animals
  • Coronary Artery Disease / diagnosis
  • Coronary Artery Disease / epidemiology
  • Coronary Artery Disease / genetics*
  • Exome Sequencing
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • HEK293 Cells
  • Hep G2 Cells
  • Hepatocytes / metabolism
  • Heredity
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Middle Aged
  • Pedigree
  • Phenotype
  • Risk Assessment
  • Risk Factors
  • Scavenger Receptors, Class B / genetics*
  • Scavenger Receptors, Class B / metabolism
  • Severity of Illness Index

Substances

  • SCARB1 protein, human
  • Scarb1 protein, mouse
  • Scavenger Receptors, Class B