PAI-1 - Polymorphism 4G/5G

EDTA Blood, 1ml

Plasminogen activator inhibitor-1 (PAI-1) regulates the activity of plasminogen activators, i.e. enzymes involved in the degradation of blood clots. The main function of PAIs is to inhibit the conversion of plasminogen into plasmin, which is responsible for the degradation of fibrin, a protein involved in the formation of blood clots.
The balance between plasminogen activators and their inhibitors such as PAI-1 is crucial for maintaining homeostasis of blood clotting and fibrinolysis.

The 4G/5G and 4G/4G polymorphisms result in higher levels of PAI-1 in serum. Since PAI-1 indirectly inhibits the degradation of blood clots, heterozygous or homozygous carriers of this mutation have an increased risk of venous thrombosis, mainly in the presence of other thrombosis-related mutations.

Especially in the presence of an increased risk of thrombosis due to a factor V Leiden mutation, a factor II mutation, a protein S and/or protein C deficiency, additional genotyping of the PAI-1 gene is recommended.

The genotype 4G/4G or 4G/5G means an increased incidence of miscarriage in early pregnancy in pregnant women overall.