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A variant of human paraoxonase/arylesterase (HUMPONA) gene is a risk factor for coronary artery disease

M Serrato1, A J Marian

  • 1Division of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA.

The Journal of Clinical Investigation
|December 1, 1995
PubMed

Insights

Genetic variants in the paraoxonase/arylesterase (PONA) gene are associated with coronary artery disease (CAD). The HUMPONA gene polymorphism influences PONA enzyme activity, impacting atherosclerosis risk.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Biochemistry

Background:

  • Coronary artery disease (CAD) is a multifactorial condition influenced by genetic and environmental factors.
  • Paraoxonase/arylesterase (PONA) enzyme activity exhibits significant inter-individual variability, linked to atherosclerosis pathogenesis.
  • A common A/G polymorphism in the human PONA gene (HUMPONA) results in two alleles (A and B) coding for different enzyme activities.

Purpose of the Study:

  • To investigate the association between HUMPONA gene variants and the risk of developing coronary artery disease.
  • To determine the distribution of HUMPONA genotypes and alleles in patients with CAD and a control population.

Main Methods:

  • Genotyping of the HUMPONA gene was performed in 223 patients with documented CAD and 247 healthy controls.
  • Allele and genotype frequencies were compared between the patient and control groups.
  • Statistical analysis included Hardy-Weinberg equilibrium testing and odds ratio calculations.

Main Results:

  • The distribution of HUMPONA genotypes was significantly different between CAD patients and controls (P=0.0003).
  • The frequency of the A allele was lower in CAD patients (0.56) compared to controls (0.69), indicating a potential protective effect or increased risk associated with the B allele (OR=1.7, P=0.0001).
  • No significant associations were found between HUMPONA genotypes and specific CAD subgroups or conventional risk factors.

Conclusions:

  • Genetic variations in the HUMPONA gene are implicated in the predisposition to coronary atherosclerosis.
  • The HUMPONA polymorphism may serve as a genetic marker for CAD risk assessment.

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