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Platelet polymorphisms: frequency distribution and association with coronary artery disease in an Indian population

Tester F Ashavaid1, Seema P Todur, Altaf A Kondkar

  • 1Research Laboratories, P D Hinduja National Hospital and Medical Research Centre, V S Marg, Mahim, Mumbai, India. dr_tashavaid@hindujahospital.com

Platelets
|November 2, 2010
PubMed

Insights

Genetic variations in blood clotting and clot breakdown pathways were studied in Indians. The tissue plasminogen activator (tPA) I/D gene polymorphism was found to increase the risk of coronary artery disease (CAD).

Area of Science:

  • Cardiovascular Genetics
  • Thrombosis and Hemostasis Research

Background:

  • Platelets are crucial for hemostasis and myocardial infarction (MI) thrombus formation.
  • Gene polymorphisms in platelet activation and fibrinolysis pathways are linked to MI risk.

Purpose of the Study:

  • To investigate the frequency and association of specific gene polymorphisms with coronary artery disease (CAD) in the Indian population.
  • To evaluate the role of thrombotic and fibrinolytic pathway gene variations in CAD susceptibility.

Main Methods:

  • A case-control genetic association study involving 473 healthy controls and 446 patients with angina.
  • Genotyping of polymorphisms in platelet glycoprotein receptors, fibrinogen chains, tissue plasminogen activator (tPA), and plasminogen activator inhibitor-I (PAI-1) using PCR-based methods.

Main Results:

  • The I allele of the tPA I/D polymorphism showed a significantly higher frequency in patients with CAD (P<0.01).
  • No significant variations were observed for other studied polymorphisms between patients and controls.
  • Mutant alleles of the fibrinogen β-chain gene were elevated in single-vessel disease, but other polymorphisms did not correlate with disease severity.

Conclusions:

  • The tPA I/D polymorphism is associated with an increased risk of CAD in the Indian population.
  • This study is the first to examine gene polymorphisms in both thrombotic and fibrinolytic pathways within this demographic.
  • Further research may elucidate the precise mechanisms linking tPA I/D polymorphism to CAD.

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