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The thrombomodulin gene mutation G(127)-->A (Ala25Thr) and cerebrovascular disease

D Warner1, A Catto, G Kunz

  • 1Unit of Molecular Vascular Medicine, Research School of Medicine, General Infirmary, Leeds, UK. darren_warner@lineone-net

Cerebrovascular Diseases (Basel, Switzerland)
|September 6, 2000
PubMed

Insights

The G(127)-->A point mutation in thrombomodulin is uncommon in patients with acute stroke. This genetic variation is unlikely to be a significant risk factor for cerebrovascular disease.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Neurology

Background:

  • Thrombomodulin is crucial for the protein C anticoagulant pathway.
  • Gene polymorphisms in thrombomodulin are linked to thrombosis.
  • A specific G(127)-->A mutation is associated with myocardial infarction.

Purpose of the Study:

  • To investigate the prevalence of the G(127)-->A thrombomodulin gene mutation in acute stroke patients.
  • To determine if this mutation is a risk factor for cerebrovascular disease.

Main Methods:

  • Studied 465 acute stroke patients and 353 control subjects.
  • Amplified genomic DNA using Polymerase Chain Reaction (PCR).
  • Identified genotypes using Restriction Fragment Length Polymorphism (RFLP).

Main Results:

  • The A allele frequency was 0.5% in the stroke group and 0.7% in the control group.
  • No statistically significant difference in allele frequency between stroke patients and controls.

Conclusions:

  • The G(127)-->A point mutation is rare.
  • This mutation is unlikely to be a major risk factor for cerebrovascular disease in the studied population.
Abstract

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