The F7 10976 G>A polymorphism genetic test analyzes a specific variation in the F7 gene, which encodes coagulation factor VII (FVII), a key serine protease in the extrinsic pathway of blood coagulation. This test detects a guanine (G) to adenine (A) substitution at nucleotide position 10976, a genetic variation that influences FVII plasma levels and activity, affecting thrombotic risk and bleeding susceptibility. As FVII plays a crucial role in initiating coagulation by forming a complex with tissue factor (TF), variations in F7 impact hemostatic balance, modifying the risk of cardiovascular disease, venous thromboembolism, and bleeding disorders.
Factor VII is synthesized in the liver and circulates in an inactive form until activated by TF upon vascular injury. The F7 10976 G>A polymorphism is located in a regulatory region of the gene. It has been associated with differences in FVII gene transcription, leading to interindividual variability in plasma FVII levels. Studies suggest that the A allele is correlated with lower FVII activity, which may reduce the risk of thrombotic events but increase the potential for impaired coagulation and prolonged bleeding. Conversely, individuals carrying the G allele tend to exhibit higher FVII activity, which may contribute to an increased tendency toward hypercoagulability and a higher risk of thrombosis.
The impact of this polymorphism on cardiovascular health has been widely investigated, as elevated FVII levels have been associated with an increased risk of coronary artery disease, myocardial infarction, and ischemic stroke. The procoagulant effect of FVII contributes to fibrin formation and thrombus development, particularly in individuals with other cardiovascular risk factors such as hypertension, dyslipidemia, and diabetes. The presence of the A allele, which leads to reduced FVII expression, has been linked to a lower risk of these conditions, suggesting a protective effect in thrombotic disorders.
In addition to cardiovascular disease, the F7 10976 G>A polymorphism has been studied in relation to bleeding disorders, where reduced FVII levels may impair clot formation and prolong prothrombin time (PT). Individuals carrying the A allele may have a mild form of FVII deficiency, which can lead to an increased bleeding tendency in certain conditions, including surgical procedures and trauma. The clinical significance of this polymorphism depends on interactions with other genetic and environmental factors influencing hemostasis.
Genetic testing for the F7 10976 G>A polymorphism provides insight into an individual’s predisposition to thrombotic and bleeding disorders. Identification of this variant allows for assessing FVII activity, coagulation efficiency, and cardiovascular risk.
The F7 10976 G>A polymorphism genetic test is also included in:
