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ANGPTL3 Deficiency and Protection Against Coronary Artery Disease
- Source :
- Journal of the American College of Cardiology. 69(16)
- Publication Year :
- 2016
-
Abstract
- Background Familial combined hypolipidemia, a Mendelian condition characterized by substantial reductions in all 3 major lipid fractions, is caused by mutations that inactivate the gene angiopoietin-like 3 (ANGPTL3). Whether ANGPTL3 deficiency reduces risk of coronary artery disease (CAD) is unknown. Objectives The study goal was to leverage 3 distinct lines of evidence—a family that included individuals with complete (compound heterozygote) ANGPTL3 deficiency, a population based-study of humans with partial (heterozygote) ANGPTL3 deficiency, and biomarker levels in patients with myocardial infarction (MI)—to test whether ANGPTL3 deficiency is associated with lower risk for CAD. Methods We assessed coronary atherosclerotic burden in 3 individuals with complete ANGPTL3 deficiency and 3 wild-type first-degree relatives using computed tomography angiography. In the population, ANGPTL3 loss-of-function (LOF) mutations were ascertained in up to 21,980 people with CAD and 158,200 control subjects. LOF mutations were defined as nonsense, frameshift, and splice-site variants, along with missense variants resulting in
- Subjects :
- 0301 basic medicine
Adult
Male
medicine.medical_specialty
Evinacumab
Population
Mutation, Missense
Myocardial Infarction
human genetics
Coronary Artery Disease
030204 cardiovascular system & hematology
Lower risk
Compound heterozygosity
Gastroenterology
Article
Coronary artery disease
03 medical and health sciences
0302 clinical medicine
Risk Factors
Internal medicine
Medicine
Animals
Humans
Myocardial infarction
education
Angiopoietin-Like Protein 3
Genes, vif
Mice, Knockout
education.field_of_study
business.industry
Case-control study
Odds ratio
Middle Aged
loss-of-function mutations
medicine.disease
Atherosclerosis
Lipids
Mice, Inbred C57BL
030104 developmental biology
Endocrinology
Angiopoietin-like Proteins
Case-Control Studies
Female
Cardiology and Cardiovascular Medicine
business
Angiopoietins
Subjects
Details
- ISSN :
- 15583597
- Volume :
- 69
- Issue :
- 16
- Database :
- OpenAIRE
- Journal :
- Journal of the American College of Cardiology
- Accession number :
- edsair.doi.dedup.....248823757b8c6859ce538eeaad1a0b1b