What is PAI-1 4G 5G mutation?
What is PAI-1 4G 5G mutation?
The 4G/5G polymorphism is a common polymorphism in the promoter region of the PAI-1 gene. Both the 4G and 5G alleles have a binding site for an activator of transcription. The 5G allele, however, has an additional binding site for a repressor, resulting in lower transcription rates and less PAI-1 activity.
What is the PAI gene?
Expand Section. Complete PAI-1 deficiency is caused by mutations in the SERPINE1 gene. This gene provides instructions for making a protein called plasminogen activator inhibitor 1 (PAI-1). PAI-1 is involved in normal blood clotting (hemostasis ).
How common is PAI-1 4G 5G?
TABLE 2. PAI-1 Genotypes and PAI-1 Allele Frequencies in Stroke Cases and Controls
| Study A | Study B | |
|---|---|---|
| Stroke Patients | Stroke Patients | |
| PAI-1 allele frequency | ||
| 4G | 0.66 | 0.61 |
| 5G | 0.34 | 0.39 |
What is PAI polymorphism?
The PAI-1 4G/5G polymorphism is a DNA sequence variation that plays a key role in regulating PAI-1 gene expression. Studies have shown that the PAI-1 activity of the 4G allele promoter is higher than that of the 5G allele promoter in a cytokine-stimulated state.
Is Mthfr a blood disorder?
Elevated homocysteine levels may cause irritation of the blood vessels and are considered a risk factor for blood clots. Individuals with MTHFR mutations who have normal homocysteine levels are not at increased risk for clots. Thus, the MTHFR mutation by itself is not a clotting disorder.
What is PAI antigen?
Plasminogen Activator Inhibitor 1, commonly referred to as PAI-1 and sometimes called Endothelial Plasminogen Activator Inhibitor or SERPINE1, is a serine protease inhibitor (serpin) whose primary function is inhibiting Tissue Plasminogen Activator (tPA) and Urokinase (uPA).
What is Hypofibrinolysis?
Hypofibrinolysis causes impaired clot break-down, leading to thrombosis. This can be caused by the production of auto-antibodies against plasminogen activators (such as tPA and uPA), or against fibrinolytic receptor components (such as annexin).
How serious is prothrombin gene mutation?
A prothrombin gene mutation can raise your risk of getting a pulmonary embolism or deep venous thrombosis. You may never get a dangerous clot, but it’s helpful to know the warning signs in case you do.
What is the PAI-1 gene 4G 5G?
PAI-1 gene 4G/5G genotype: A risk factor for thrombosis in vessels of internal organs Although the common 4G/5G polymorphism in the promoter of the PAI-1 gene was suggested to be a risk factor for some of the thrombotic disorders, its significance in the development of thrombosis is still controversial.
Do PAI-1 4G/5G polymorphisms play a role in the pathophysiology of CAD?
Therefore, PAI-1 4G/5G polymorphisms may play a role in the pathology of CAD. In a prospective cohort study of black South Africans, PAI-1 4G/5G variants had an increased risk for developing hypertension (high blood pressure) compared to 5G/5G individuals with the highest risk found with 4G/4G individuals.
What is hyphypofibrinolysis due to excess PAI-1?
Hypofibrinolysis due to excess PAI-1 can be found in patients with deep vein thrombosis (DVT) and 4G/5G polymorphism of the PAI-1 gene may modulate the inhibitor’s synthesis. In 149 patients with inherited thrombophilia, the possible thrombotic contribution of both 4G/5G polymorphism and PAI-1 plasma levels was evaluated.
What is the 4G/5G polymorphism?
The most studied PAI-1 genetic variant (or allele) is the 4G/5G polymorphism located on the promoter region of DNA. In this polymorphism, one allele contains a sequence of four guanosine (4G), and the other contains a sequence of 5 guanosine (5G).
