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FLASH GENE
Symbol TFPI contributors: mct/ - updated : 22-10-2017
HGNC name tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
HGNC id 11760
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --other  
weaker expression in cancer cells localised in lymph node metastatic foci of breast cancer
constitutional     --low  
in genetic and acquired protein S deficiency and concomitant TFPI deficiency substantially contributes to the hypercoagulable state associated with protein S deficiency
constitutional     --over  
in pregnant patients at 20 weeks gestation who subsequently develop preeclampsia
constitutional       gain of function
in acute skin wounds as well as wound edges of chronic leg ulcers
Susceptibility
  • putative susceptibility gene for venous thrombosis (536GC->T)
  • risk of restenosis after coronary angioplasty
  • to venous thromboembolism
  • Variant & Polymorphism other
  • low levels of free TFPI are at an increased risk of recurrent venous thromboembolism
  • minus 33C allele has been reported to be associated with elevated total TFPI plasma levels compared to the minus 33T and has thus been suggested to be associated with a lowered risk of venous thrombosis
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodcoagulation 
    inhibition of TFPI might be a promising novel treatment approach, especially in haemophilia patients with FVIII inhibitors
    ANIMAL & CELL MODELS