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Factor VLeiden and prothrombin G20210A gene polymorphisms in patients with coronary artery disease

Bahadir Ercan1, Lülüfer Tamer, Nehir Sucu

  • 1Department of Biochemistry, Mersin University, Medical Faculty, Mersin, Turkey.

Yonsei Medical Journal
|May 3, 2008
PubMed

Insights

Investigating genetic factors in coronary artery disease (CAD), this study found Factor VLeiden and Prothrombin mutations were slightly more common in patients. However, no statistically significant link was established between these mutations and CAD development.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Medicine
  • Thrombosis Research

Background:

  • Coronary artery disease (CAD) pathogenesis involves complex genetic and environmental interactions, with precise molecular mechanisms remaining unclear.
  • Atherosclerosis, the underlying cause of CAD, results from a multifactorial process.
  • Understanding genetic predispositions is crucial for CAD and myocardial infarction (MI) research.

Purpose of the Study:

  • To investigate the association between prothrombin G20210A and Factor VLeiden mutations and atherosclerotic coronary artery disease.
  • To determine the prevalence of these specific genetic mutations in patients with significant coronary artery narrowing.
  • To evaluate the potential role of these mutations as risk factors for CAD.

Main Methods:

  • A case-control study involving 287 subjects: 106 angiographically normal controls and 181 patients with >=50% coronary artery narrowing.
  • Genotyping for Factor VLeiden and Prothrombin G20210A mutations was performed using LightCycler Real-Time PCR.
  • Statistical analysis included calculating odds ratios (OR) with confidence intervals (CI) to assess mutation association.

Main Results:

  • Factor VLeiden heterozygote mutation was found in 6.6% of controls and 6.1% of patients.
  • Prothrombin G20210A heterozygote mutation was present in 6.6% of controls and 7.7% of patients.
  • The odds ratio for Factor VLeiden was 1.52 (CI: 0.240-9.602) and for Prothrombin G20210A was 1.415 (CI: 0.287-6.962).

Conclusions:

  • Both Factor VLeiden and Prothrombin gene mutations showed slightly higher frequencies in CAD patients compared to controls.
  • No statistically significant association was found between the presence of Factor VLeiden or Prothrombin G20210A mutations and coronary artery disease.
  • These specific prothrombotic mutations do not appear to be significant independent risk factors for significant coronary atherosclerosis in this study population.
Abstract

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