-Author name in bold denotes the presenting author
-Asterisk * with author name denotes a Non-ASH member
Clinically Relevant Abstract denotes an abstract that is clinically relevant.

PhD Trainee denotes that this is a recommended PHD Trainee Session.

Ticketed Session denotes that this is a ticketed session.

3533 Novel Association of a F11 Variant with Venous Thromboembolism in a Chinese Han Population

Disorders of Coagulation or Fibrinolysis
Program: Oral and Poster Abstracts
Session: 322. Disorders of Coagulation or Fibrinolysis: Poster III
Monday, December 7, 2015, 6:00 PM-8:00 PM
Hall A, Level 2 (Orange County Convention Center)

Ying Ying Wu1*, Liang Tang, Ph.D.2*, Yu Hu3,4*, Wei Zeng, Ph.D.2* and Han Liu, PhD5

1Union hospital,Tongji medical college,Huazhong University of science & technology, Wuhan, China
2Institute of Hematology, Union hospital,Tongji medical college,Huazhong University of science & technology, Wuhan, China
3Institute of Hematology,Union Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China
4Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China
5State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine,, Shanghai, China

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.

Disclosures: No relevant conflicts of interest to declare.

See more of: 322. Disorders of Coagulation or Fibrinolysis: Poster III
See more of: Disorders of Coagulation or Fibrinolysis
See more of: Oral and Poster Abstracts
<< Previous Abstract | Next Abstract >>

*signifies non-member of ASH