Very rare minor homozygous GG genotype of tissue factor +5466A>G mutation in a patient with two cryptogenic cerebrovascular ischemic events.
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.
Potaczek
Daniel P
DP
Atopy Allergy Research Center, Juntendo University School of Medicine, Tokyo, Japan.
Pieculewicz
Monika
M
Mazur
Marta
M
Branicka
Agnieszka
A
Nishiyama
Chiharu
C
Okumura
Ko
K
Undas
Anetta
A
D000328:Adult; D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics; D006720:Homozygote; D006801:Humans; D002546:Ischemic Attack, Transient / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D020521:Stroke / Q000175:diagnosis / Q000235:genetics*; D013925:Thromboplastin / Q000235:genetics*
D013925:Thromboplastin