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DNA polymorphism adjacent to human apoprotein A-1 gene: relation to hypertriglyceridaemia
Lancet (London, England)
|February 26, 1983
Summary
A DNA polymorphism near the human apoprotein-A-1 gene is more common in hypertriglyceridaemia patients. This genetic variant may indicate a predisposition to high triglyceride levels.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Apolipoprotein A-1 (ApoA-1) plays a crucial role in lipid metabolism.
- Genetic variations in the apolipoprotein A-1 gene region can influence lipid profiles.
- Hypertriglyceridaemia is a significant risk factor for cardiovascular diseases.
Purpose of the Study:
- To investigate the association between a specific DNA polymorphism in the 3'-flanking region of the human apoprotein-A-1 gene and hypertriglyceridaemia.
- To determine the frequency of this polymorphism in healthy individuals and patients with hypertriglyceridaemia.
Main Methods:
- DNA sequencing was used to identify and genotype the polymorphism.
- Allele and genotype frequencies were calculated and compared between patient and control groups.
Main Results:
- A DNA polymorphism was identified in the 3'-flanking region of the human apoprotein-A-1 gene.
- The heterozygous state frequency was approximately 0.05 in healthy controls (n=73).
- In hypertriglyceridaemia subjects (n=35), the polymorphic site frequency was 0.34, with 2 homozygous individuals.
Conclusions:
- The observed higher frequency of the mutant allele in hypertriglyceridaemia patients suggests a potential genetic linkage.
- This polymorphism may serve as a marker for abnormalities in the apoprotein-A-1 gene, impacting ApoA-1 expression or structure.
- These genetic alterations could predispose individuals to hypertriglyceridaemia.
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