Author + information
- Rajasekhar Durgaprasad,
- Vamsidhar Akkulagari,
- Latheef Kasala,
- Vanajakshamma Velam and
- Sarma PVGK
Pulmonary thromboembolism, most commonly originates from venous thrombosis (VT). The occurrence of venous thromboembolism is a culmination of environmental and genetic risk factors. A single nucleotide polymorphism i.e., G to A transitions (known as factor V Leiden mutation) at nucleotide position 1691 of factor V (FV) gene has been shown to be associated with increased risk of venous thrombosis. FV gene mutation was found to be rare in Southeast Asians and reports from India are scarce. With this background we aimed to study the polymorphisms of FV in pulmonary embolism patients of Southern-India.
In this prospective study, 60 pulmonary embolism patients of Southern-India confirmed with CT pulmonary angiography were enrolled. This study was approved by the institutional ethics committee. FV mutations were studied using polymerase chain reaction and Sanger's dideoxy termination sequencing method.
Mean age of the study population was 41.20±12.98 years (range: 21-76 years). VT was observed in 30% of the study population. Out of 60 patients, 80% were males and 20% were females. Proteine C deficiency was observed in 40% of the study population. We identified two novel transition type point mutations: c.1538 G > A and c.1601 G > A in exon-10 of FV which is responsible for the cleavage site for activated protein C. These point mutations resulted in single amino acid change in protein sequence at p.Arg 513 Lys and p.Arg 534 Gln respectively. These mutations prevents efficient inactivation of FV and remains active which facilitates over production of thrombin leading to generation of excess fibrin and excess clotting which results in deep vein thrombosis and pulmonary thromboembolism.
We report two novel point mutation of Factor V in Indian patients with pulmonary embolism.