Novel Association of a F11 Variant with Venous Thromboembolism in a Chinese Han Population

Background: Coagulation factor XI (FXI) is essential for normal function of the intrinsic pathway of blood coagulation. Nevertheless, high coagulation factor XI (FXI) levels were related to an increase in the risk of venous thromboembosis. The aim of the present study was to investigate whether any genetic variant in the factor XI gene (F11) was associated with susceptibility to venous thromboembosis in the Chinese Han population.

Methods: All exons and the 5'- and 3'-untranslated regions of F11 were initially sequenced to identify informative variants. Potential abnormal variants were analyzed in a population of 1531 venous thrombosis patients and 1343 healthy controls. Finally, functional studies were performed to evaluate the effects of the variant.

Results: A mutation c.539A>G(rs190283743) was identified and harbored a high predisposition to venous thrombosis (adjusted OR = 1.861, 95%CI = 1.221-2.836). The plasma factor XI activity and antigen levels in heterozygotes were increased.

Conclusions: Our results suggested that the novel F11variant is a possible genetic determinant of an increased risk venous thrombosis of and increased coagulant activity of factor XI.