Coagulation factor V gene 1691G>A polymorphism as an indicator for risk and prognosis of lower extremity deep venous thrombosis in Chinese Han population

Area of Science:

• Genetics
• Hematology
• Vascular Medicine

Background:

• Lower extremity deep venous thrombosis (LDVT) is a significant health concern.
• Genetic factors play a role in the development of thrombotic events.
• The coagulation factor V (FV) 1691G>A polymorphism is a candidate genetic marker for thrombosis.

Purpose of the Study:

• To investigate the association between the FV 1691G>A polymorphism and the risk of LDVT.
• To evaluate the impact of this polymorphism on the prognosis of LDVT patients.
• To identify FV 1691G>A as a potential biomarker for LDVT risk and outcomes.

Main Methods:

• Case-control study involving 348 LDVT patients and 398 healthy controls.
• Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for FV gene 1691G>A genotyping.
• Analysis of coagulation and anticoagulation parameters, including a 3-year follow-up and logistic regression.

Main Results:

• The FV 1691G>A polymorphism, specifically GA and AA genotypes and the A allele, was significantly more frequent in LDVT patients compared to controls.
• Carriage of the A allele was associated with altered coagulation profiles, including reduced prothrombin time, activated partial thromboplastin time, fibrinogen, protein C, and protein S, and increased activated protein C resistance and lupus anticoagulant positivity.
• FV 1691G>A polymorphism, elevated cholesterol levels, and family history were identified as independent risk factors for LDVT.
• Patients with the A allele exhibited higher rates of vascular patency and recurrence post-LDVT.

Conclusions:

• The FV 1691G>A polymorphism is associated with an increased risk of developing LDVT.
• This genetic polymorphism also influences the prognosis of LDVT, impacting recurrence and patency rates.
• FV 1691G>A may serve as a valuable predictive marker for LDVT risk and patient outcomes.