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Updated: Aug 11, 2026
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
[Application of gene technology in the diagnosis of familial hypercholesterolemia]
T P Leren1, K S Bakken, O K Rødningen
1Avdeling for medisinsk genetikk, Ullevål sykehus, Blindern, Oslo.
Insights
Familial hypercholesterolemia, a genetic disorder, is often undertreated due to vague diagnostic criteria. Molecular genetic analysis of the LDL receptor gene offers a feasible and specific method for accurate diagnosis and improved patient management.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Biochemistry
Context:
- Familial hypercholesterolemia (FH) is an autosomal dominant disorder.
- Characterized by high cholesterol, xanthomas, and early heart disease.
- Current treatments are effective but underutilized.
Purpose:
- To evaluate the clinical utility of molecular genetic analysis for diagnosing familial hypercholesterolemia.
- To address the limitations of current clinical diagnostic criteria for FH.
- To establish genetic testing as a basis for specific FH diagnosis.
Summary:
- FH diagnosis is often delayed due to imprecise clinical criteria.
- Mutations in the low-density lipoprotein (LDL) receptor gene cause FH.
- Molecular genetic analysis identified 29 distinct mutations in Norwegian FH patients.
- Genetic testing provided molecular diagnoses for 681 patients across 322 families.
Impact:
- Molecular genetic analysis is a feasible and effective tool for FH diagnosis.
- This approach can improve patient identification and treatment initiation.
- Establishes a pathway for more precise and personalized FH management.
Abstract:
Familial hypercholesterolaemia is an autosomal dominant disorder characterized by hypercholesterolaemia, xanthomas and premature coronary heart disease. Treatment of hypercholesterolemia is effective and consists of dietary changes and lipid lowering drugs. Only a minor proportion of familial hypercholesterolaemia patients are adequately treated, however. One explanation for this is assumed to be the relatively vague clinical diagnostic criteria applied. Because familial hypercholesterolaemia is caused by a mutation in the gene encoding the low density lipoprotein (LDL) receptor, mutation analysis of this gene could form the basis for specific diagnosis. 29 different mutations in the LDL receptor gene have been found to cause familial hypercholesterolaemia among Norwegian patients, and a total of 681 patients from 322 unrelated families have been provided with a molecular genetic diagnosis. We conclude that the use of molecular genetic analysis is feasible, and should be used clinically.
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