Polymorphisms at the 5'-end of the apolipoprotein AI gene and severity of coronary artery disease

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X L Wang1, S X Liu, R M McCredie

  • 1Department of Cardiovascular Medicine, University of New South Wales, Australia.

The Journal of Clinical Investigation
|July 15, 1996
PubMed

Insights

Certain genetic variations in the apolipoprotein AI gene are linked to more severe coronary artery disease (CAD). These specific gene polymorphisms do not increase HDL-cholesterol or apo AI levels in Australian patients.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Lipid Metabolism

Background:

  • High-density lipoprotein cholesterol (HDL-C) and apolipoprotein AI (apo AI) levels are inversely correlated with coronary artery disease (CAD) risk.
  • Specific MspI polymorphisms in the apo AI gene have been previously associated with altered HDL-C levels.

Purpose of the Study:

  • To investigate the association between two MspI polymorphisms of the apo AI gene and circulating lipid levels, as well as CAD severity.
  • To determine if these polymorphisms influence HDL-C and apo AI levels in a cohort of Australian patients.

Main Methods:

  • Genotyping of two MspI polymorphisms in the apo AI gene in 644 patients aged <= 65 years.
  • Assessment of circulating lipid profiles (HDL-C, apo AI levels).
  • Quantification of CAD severity using coronary angiography (luminal obstruction > 50%).
  • Statistical analysis including Hardy-Weinberg equilibrium, logistic regression, and odds ratios (OR) with 95% confidence intervals (CI).

Main Results:

  • The apo AI gene polymorphisms were in Hardy-Weinberg equilibrium but not associated with HDL-C or apo AI levels.
  • Patients homozygous for the -75 bp substitution had significantly higher odds of severe CAD (OR: 4.75).
  • Patients with rare +83 bp alleles also showed increased odds of severe CAD (OR: 2.56).
  • An additive effect of both polymorphisms was observed for severe CAD (OR: 6.33).
  • The +83 bp polymorphism remained a significant predictor of CAD severity (OR: 2.95) and was associated with a positive family history of CAD (P = 0.009).

Conclusions:

  • The studied apo AI gene polymorphisms are not associated with elevated HDL-C or apo AI levels in this Australian coronary population.
  • These specific genetic variations are, however, significantly associated with increased severity of coronary artery disease.
  • The +83 bp polymorphism is an independent predictor of CAD severity and linked to familial CAD risk.

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