C1040T of thrombin-activated fibrinolysis inhibitor

Cerebral venous thrombosis (CVT) is defined as thrombus obstruction of a cerebral venous sinus. Factor V leiden (FVL) mutation and thrombin-activatable fibrinolysis inhibitor (TAFI) polymorphism are two key factors in the coagulation and fibrinolysis process involved in the development of thromboembolic diseases. However, the role of these factors in the development of DVT remains ambiguous. The aim of this study was to determine the imputability of the FVL mutation and the TAFIC1040T polymorphism in the occurrence of DVT in young people. Through a case-control study including 32 patients and 49 controls collected at the neurology department of CHU Habib Bourguiba Sfax. The molecular study showed that 37.5% of our patients were heterozygous for the C1040T mutation and 12.5% were homozygous mutants. This study also showed that there was a significant association between the TAFI C1040T polymorphism and the risk of CVT.

Autorentext

Dr. Lamia Mbarek Laboratory of Neurogenetics, Parkinson's Disease and Cerebrovascular Disease (LR-12-SP-19); Habib Bourguiba University Hospital, University of Sfax, Tunisia Clinical Investigation Center (CIC), Habib Bourguiba University Hospital, Tunisia