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Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease

S Agewall1, B Norman

  • 1Department of Cardiology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden. stefan.agewall@medisin.uio.no

Pathophysiology of Haemostasis and Thrombosis
|June 15, 2007
PubMed

Insights

Genetic variations in the adenosine monophosphate deaminase-1 (AMPD1) gene did not significantly impact cardiovascular risk factors in patients with coronary heart disease. However, AMPD1 allele carriers showed lower levels of plasminogen activator inhibitor-1 and von Willebrand factor.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Biochemistry

Background:

  • Coronary heart disease (CHD) is a leading cause of mortality globally.
  • Genetic factors play a significant role in the development of cardiovascular diseases.
  • The adenosine monophosphate deaminase-1 (AMPD1) gene is implicated in cellular energy metabolism and has been studied for its potential role in cardiovascular health.

Purpose of the Study:

  • To investigate the association of C34T and G468T variations in the AMPD1 gene with various cardiovascular parameters in patients with CHD.
  • To assess the impact of AMPD1 gene variations on intima-media thickness, endothelial function, glucose metabolism, hemostatic variables, and cardiac hypertrophy.

Main Methods:

  • Genotyping of C34T and G468T variations in the AMPD1 gene in 109 patients with CHD.
  • Measurement of intima-media thickness (carotid and brachial arteries), flow-mediated dilatation, and cardiac dimensions.
  • Assessment of glucose metabolism, hemostatic variables (plasminogen activator inhibitor-1 activity, von Willebrand factor), and ejection fraction.

Main Results:

  • No significant differences were observed in intima-media thickness, plaque presence, endothelial function, cardiac dimensions, or ejection fraction between AMPD1 genotype groups.
  • Plasminogen activator inhibitor-1 activity and von Willebrand factor levels were significantly higher in CC homozygotes compared to CT/TT genotype carriers (p < 0.05).
  • AMPD1 allele carriers exhibited lower levels of plasminogen activator inhibitor-1 activity and von Willebrand factor.

Conclusions:

  • The studied AMPD1 gene variations (C34T and G468T) do not appear to be associated with surrogate markers of atherosclerosis, endothelial function, cardiac structure, or glucose metabolism in patients with CHD.
  • AMPD1 genotype may influence specific hemostatic variables, with carriers of mutant alleles showing potentially favorable levels of plasminogen activator inhibitor-1 and von Willebrand factor.

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