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Related Experiment Video

Updated: Jul 11, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

Apolipoprotein polymorphisms and familial hypercholesterolemia.

George V Z Dedoussis¹

¹University of Athens, Laboratory of Molecular Genetics, Department of Nutrition and Dietetics, Harokopio, 70 El. Venizelou Str, 17671 Kallithea-Athens, Greece. dedousi@hua.gr

Pharmacogenomics

|October 11, 2007

Summary

Apolipoprotein gene polymorphisms significantly impact lipid levels and cardiovascular disease risk in Familial Hypercholesterolemia (FH). Understanding these genetic variations is crucial for managing FH phenotypes and improving patient outcomes.

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Published on: October 12, 2017

Area of Science:

Genetics
Cardiovascular Medicine
Metabolic Disorders

Background:

Apolipoproteins are key regulators of lipid metabolism, with nine identified as most relevant to lipoprotein regulation.
Gene polymorphisms in apolipoproteins influence plasma levels of various lipoproteins (HDL, VLDL, LDL) and triglycerides.
Familial Hypercholesterolemia (FH) is a common genetic disorder caused by mutations in LDLR, APOB, or PCSK9 genes.

Purpose of the Study:

To review current information on the impact of apolipoprotein polymorphisms on the Familial Hypercholesterolemia (FH) phenotype.
To highlight the role of apolipoprotein variations in modulating cardiovascular disease risk in FH patients.

Main Methods:

Literature review of studies investigating apolipoprotein gene polymorphisms and FH.
Analysis of how these polymorphisms affect lipid profiles and clinical manifestations of FH.

Main Results:

Apolipoprotein gene polymorphisms are shown to influence plasma lipoprotein levels and triglyceride concentrations.
These genetic variations, alongside FH-causing mutations, contribute to the variability of cardiovascular disease risk in affected individuals.
The haplotype of lipid modifier genes, including apolipoproteins, affects the FH phenotype.

Conclusions:

Apolipoprotein polymorphisms play a significant role in determining the FH phenotype.
Understanding these genetic interactions is essential for personalized risk assessment and management strategies in FH.
Further research into apolipoprotein genetics can lead to improved therapeutic targets for hypercholesterolemia.