Very rare minor homozygous GG genotype of tissue factor +5466A>G mutation in a patient with two cryptogenic cerebrovascular ischemic events

Daniel P. Potaczek, Monika Pieculewicz, Marta Mazur, Agnieszka Branicka, Chiharu Nishiyama, Ko Okumura, Anetta Undas

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Abstract

We identified a male Polish patient with a very rare minor homozygous GG genotype of the tissue factor (TF) +5466A>G polymorphism, who within two months experienced a transient ischemic attack (TIA) and ischemic stroke of unknown origin associated with the presence of patent foramen ovale below 40 years of age. A relationship between the TF +5466GG genotype and cerebrovascular thromboembolic events could be explained by detectable coagulant TF activity determined in a clotting assay and increased immunoreactive TF levels detected in plasma 5 years after the previous TIA and stroke. Given the role of TF-induced pathway in blood coagulation, it might be speculated that the TF +5466A>G polymorphism, especially in the homozygous GG form, predisposes to increased risk of cerebrovascular ischemic events. There is a need to conduct a prospective study on the effect of TF +5466A>G polymorphism on the risk of cryptogenic stroke.

Original languageEnglish
Pages (from-to)e13-e15
JournalInternational Journal of Cardiology
Volume147
Issue number1
DOIs
Publication statusPublished - 17 Feb 2011

Keywords

  • (Genetic) Polymorphism
  • Cryptogenic stroke
  • Patent foramen ovale
  • Tissue factor

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