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A DNA polymorphism of the apolipoprotein C-III gene in extracoronary atherosclerosis

G O'Connor1, J Stocks, J Lumley

  • 1Medical Professorial Unit, St Bartholomew's Hospital, London.

Clinical Science (London, England : 1979)
|March 1, 1988
PubMed

Insights

A genetic variant in the apolipoprotein C-III gene was more common in patients with atherosclerosis. This finding suggests a genetic link to atherosclerosis, independent of lipid levels.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Epidemiology

Background:

  • Apolipoprotein C-III (apo C-III) plays a role in lipid metabolism.
  • Genetic variations in apo C-III may influence the risk of atherosclerosis.
  • Extracoronary atherosclerosis affects peripheral arteries and can lead to serious health complications.

Purpose of the Study:

  • To investigate the association between a specific genetic polymorphism of apolipoprotein C-III and extracoronary atherosclerosis.
  • To determine if this genetic variant is more prevalent in patients with atherosclerosis compared to healthy controls.

Main Methods:

  • A case-control study was conducted involving 49 Caucasian patients with angiographically confirmed extracoronary atherosclerosis.
  • A control group of 50 healthy individuals was recruited.
  • Genotyping was performed to identify an uncommon allelic variant within the apo A-I/C-III gene cluster.

Main Results:

  • The uncommon allelic variant of the apo A-I/C-III gene cluster was found in 24% of patients with atherosclerosis versus 4% in controls (P < 0.01).
  • This association remained significant in subgroups with carotid atherosclerosis (22%, P < 0.02) and aorto-femoral atherosclerosis (27%, P < 0.01).
  • The higher frequency of the uncommon genotype persisted even in normotriglyceridaemic patients with arterial disease (22%, P < 0.01), indicating an effect independent of plasma lipid levels.

Conclusions:

  • A specific genetic polymorphism of apolipoprotein C-III is significantly associated with extracoronary atherosclerosis.
  • This genetic variant appears to confer an increased risk for atherosclerosis independently of circulating lipid levels.
  • These findings highlight the potential role of genetic factors in the pathogenesis of atherosclerosis.

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