PAI-1 4G/5G Mutation

Plasminogen activator inhibitor-1 (PAI-1) is a key regulator of the fibrinolytic pathway, binding to tissue plasminogen activator (tPA) and inhibiting the conversion of plasminogen to plasmin, which decreases fibrinolysis.

A single base deletion at nucleotide 675 (4G/5G) in the promoter region of the PAI-1 gene increases transcription and results in higher PAI-1 protein levels. Individuals with 4G/5G (heterozygous) or 4G/4G (homozygous) genotypes have elevated PAI-1, which suppresses fibrinolysis and increases thrombotic risk.genotypes have elevated PAI-1, which suppr

PAI-1 polymorphisms have been associated with myocardial infarction, coronary artery disease, ischemic stroke, and pregnancy complications such as pre-eclampsia, stillbirth, and recurrent spontaneous miscarriage, particularly in women homozygous for 4G/4G.

• Clotted samples
• Specimens not collected in EDTA tubes
• Frozen specimens

Polymerase chain reaction (PCR) with reverse hybridization.

• Normal: 5G/5G
• Heterozygous Mutated: 4G/5G
• Homozygous Mutated: 4G/4G

• Doggen CJ, Bertina R, Manger C, et al. Thromb Haemost. 1999;82:115–120.
• Buchholz T, Lohse P, Rogenhofer N, et al. Hum Reprod. 2003;18:2473–2477.
• Dossenbach-Glaninger A, et al. Clin Chem. 2003;49:1081–1086.

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