Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2015 Sep;22(5):428-36.
doi: 10.1097/MOH.0000000000000165.

Dissecting the genetic determinants of hemostasis and thrombosis

Karl C Desch  1
Affiliations
Review

Dissecting the genetic determinants of hemostasis and thrombosis

Karl C Desch. Curr Opin Hematol. 2015 Sep.

Abstract

Purpose of review: New DNA genotyping and sequencing technologies have facilitated the rapid advancement in our knowledge of human genomic variation and a search for the heritable determinants of complex genetic traits. This review highlights findings from recent genetic studies of complex traits primarily related to venous thromboembolism and provides tools to understand and interpret genome-wide association studies and next-generation sequencing studies.

Recent findings: Genome-wide studies of venous thromboembolic disease and the variation of the protein components of the hemostatic system have been reported. The results of these studies have suggested that variants in a diverse set of known and new genes contribute to the heritability of these traits, but that many of the genetic determinants of these traits still remain undiscovered.

Summary: Next-generation sequencing studies and functional studies of the gene loci that contribute to hemostatic traits are currently underway. Future studies that explore the role of rare genetic variants, regulatory elements of the genome and gene-gene interactions will be required for a more complete understanding of the genetic control of the hemostatic system and for the application of this knowledge to the care of patients with disorders of thrombosis and hemostasis.

PubMed Disclaimer

Conflict of interest statement

Conflicts of Interest: None

Similar articles

See all similar articles

Cited by

References

    1. Ginsburg D. Identifying novel genetic determinants of hemostatic balance. J Thromb Haemost. 2005 Aug;3(8):1561–8. eng. - PubMed
    1. Ginsburg D. Hemophilia and Other Disorders of Hemostsis. In: Rimoin DLCJ, Pyeritz RE, editors. Emery and Rimion’s Principles and Practice of Medical Genetics. II. New York: Churchill Livingstone; 2002. pp. 1926–58.
    1. Souto JC, Almasy L, Borrell M, Blanco-Vaca F, Mateo J, Soria JM, et al. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. American journal of human genetics. 2000 Dec;67(6):1452–9. eng. - PMC - PubMed
    1. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A. 1993 Feb 1;90(3):1004–8. - PMC - PubMed
    1. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994 May 5;369(6475):64–7. - PubMed

Publication types

MeSH terms