Related Experiment Video
Updated: Aug 18, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia
Angelique C M Jansen1, Emily S van Aalst-Cohen, Michael W T Tanck
1Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands.
Objective:
To investigate the contribution of polymorphisms in multiple candidate genes to cardiovascular disease (CVD) risk in a large cohort of patients with heterozygous familial hypercholesterolemia (FH).
Methods And Results:
We genotyped 1940 FH patients for 65 polymorphisms in 36 candidate genes. During 91.451 person-years, 643 (33.1%) patients had at least 1 cardiovascular event. Multifactorial Cox survival analysis revealed that the G20210A polymorphism in the prothrombin gene was strongly associated with a significantly increased CVD risk (GA versus GG; P<0.001).
Conclusions:
In a large cohort of FH patients, we found that the G20210A polymorphism in the prothrombin gene is strongly associated with CVD risk. Our results constitute a step forward in the unraveling of the hereditary propensity toward CVD in FH and might lead to better risk stratification and hence to more tailored therapy for CVD prevention.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Coronary Artery Disease I: Introduction
Principles of Pharmacogenetics: Types of Genetic Variants
Cholesterol: Significance and Regulation
Considering cholesterol and...
Cardiomyopathy III: Hypertrophic Cardiomyopathy