The F13A1 103 G>T polymorphism genetic test analyzes a specific variation in the F13A1 gene, which encodes the A subunit of coagulation factor XIII (FXIII), an essential enzyme in the final stages of blood clot stabilization. This test detects a guanine (G) to thymine (T) substitution at nucleotide position 103, a genetic variation that influences FXIII activity, fibrin cross-linking efficiency, and susceptibility to thrombotic and hemorrhagic disorders. FXIII plays a crucial role in clot stabilization by cross-linking fibrin strands and strengthening the fibrin network. Genetic alterations in F13A1 affect hemostatic balance and clot durability, modifying the risk of thrombosis, impaired wound healing, and excessive bleeding.
FXIII is a transglutaminase activated by thrombin in the presence of calcium, converting soluble fibrin clots into an insoluble, mechanically stable network. The F13A1 103 G>T polymorphism is located in a regulatory region of the gene and has been associated with differences in FXIII expression and function. Studies suggest that the T allele is linked to reduced FXIII activity, which may weaken clot stability and increase the risk of bleeding complications. Conversely, the G allele is associated with normal or enhanced FXIII function, promoting efficient fibrin cross-linking and clot resistance to fibrinolysis. The effects of this polymorphism on coagulation efficiency have been examined in relation to various hemostatic disorders and cardiovascular diseases.
The F13A1 103 G>T polymorphism has been studied extensively in the context of thrombotic disorders, particularly venous thromboembolism (VTE), deep vein thrombosis (DVT), and myocardial infarction. Higher FXIII activity, commonly observed in individuals carrying the G allele, has been linked to an increased risk of thrombus formation due to enhanced clot stability and prolonged fibrin network resistance to degradation. The role of FXIII in stabilizing atherosclerotic plaques has also been explored, with genetic variations in F13A1 influencing plaque composition and rupture susceptibility. In contrast, carriers of the T allele, who exhibit lower FXIII activity, may have a lower risk of thrombosis but an increased tendency toward hemorrhagic complications, particularly in cases of trauma or surgical intervention.
Beyond its role in thrombosis, FXIII is involved in tissue repair, wound healing, and angiogenesis. The F13A1 103 G>T polymorphism has been linked to differences in wound healing efficiency and scar formation, with reduced FXIII activity potentially leading to delayed tissue repair and an increased risk of impaired healing. This polymorphism has also been investigated in relation to pregnancy-related complications, including recurrent miscarriage and preeclampsia, where FXIII plays a role in placental development and vascular integrity.
Genetic testing for the F13A1 103 G>T polymorphism provides insight into an individual’s predisposition to thrombotic and bleeding disorders. Identifying this variant allows for assessing FXIII activity, clot stability, and hemostatic efficiency, contributing to a better understanding of genetic influences on coagulation, cardiovascular risk, and wound healing capacity.
The F13A1 103 G> T polymorphism genetic test is also included in:
