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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
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Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.
Pei Jun Zhao1, Matthew R Ban2, Michael A Iacocca2
1Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
CJC Open
|March 12, 2020
Summary
Familial hypercholesterolemia (FH) mutations significantly increase the risk of premature myocardial infarction (MI), independent of cholesterol levels. Genetic testing can improve cardiovascular risk assessment for FH patients.
Area of Science:
- Genetics
- Cardiology
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is an inherited disorder characterized by high low-density lipoprotein (LDL) cholesterol levels.
- This condition significantly elevates the risk of premature coronary heart disease.
Purpose of the Study:
- To determine if FH mutations are an independent risk factor for myocardial infarction (MI).
- To assess the association after accounting for LDL cholesterol and other clinical risk factors.
Main Methods:
- Targeted next-generation DNA sequencing of lipid-related genes and single nucleotide polymorphisms in 182 patients with suspected FH.
- Identification of monogenic mutations and high-risk SNPs.
Main Results:
- Pathogenic FH mutations were found in 27% of patients.
- FH mutation carriers were younger at referral and had higher LDL cholesterol.
- FH mutations were independently associated with a 4.51-fold increased risk of premature MI (P=0.002).
Conclusions:
- FH is genetically heterogeneous.
- FH mutations are a significant independent predictor of premature MI in hypercholesterolemia patients.
- Genotyping can aid in personalized cardiovascular risk stratification and treatment for FH.
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