Genetic aspects of thrombotic disease

Pablo García de Frutos; Bengt Zöller

doi:10.1160/TH15-10-0774

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2015; 114(05): 883-884
DOI: 10.1160/TH15-10-0774

Theme Issue Editorial

Schattauer GmbH

Genetic aspects of thrombotic disease

Autor*innen

Pablo García de Frutos

¹Department of Cell Death and Proliferation, IIBB-CSIC and IDIBAPS, Barcelona, Spain
Bengt Zöller

²Center for Primary Health Care Research, Lund University/Region Skåne, Malmö, Sweden

Abstract

Volltext

Referenzen

References
1 Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-530.
2 Thomas D. Gene--environment-wide association studies: emerging approaches. Nat Rev Genet 2010; 11: 259-272.
3 Miletich JP, Prescott SM, White R. et al. Inherited predisposition to thrombosis. Cell 1993; 72: 477-480.
4 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 co-factor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-1008.
5 Bertina RM, Koeleman BP, Koster T. et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67.
6 Poort SR, Rosendaal FR, Reitsma PH. et al. A common genetic variation in the 3’-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996; 88: 3698-3703.
7 Laffan M, Tuddenham E. Thrombophilia: an expanding group of genetic defects that predispose to thrombosis. Mol Med Today 1997; 3: 303-309.
8 Miletich JP. Thrombophilia as a multigenic disorder. Semin Thromb Hemost 1998; 24 (Suppl 1) 13-20.
9 Zoller B, Garcia de Frutos P, Hillarp A. et al. Thrombophilia as a multigenic disease. Haematologica 1999; 84: 59-70.
10 Mannucci PM, Franchini M. Classic thrombophilic gene variants. Thromb Haemost 2015; 114: 885-889.
11 Zoller B, Li X, Ohlsson H. et al. Familial history of venous thromboembolism as a risk factor and genetic research tool. Thromb Haemost 2015; 114: 890-900.
12 Hirschhorn JN, Lohmueller K, Byrne E. et al. A comprehensive review of genetic association studies. Genet Med The American College of Medical Genetics 2002; 4: 45-61.
13 Tang L, Hu Y. Ethnic diversity in the genetics of venous thromboembolism. Thromb Haemost 2015; 114: 901-909.
14 Souto JC, Pena G, Ziyatdinov A. et al. A genome-wide study of body mass index and its genetic correlation with thromboembolic risk. Results from the GAIT project. Thromb Haemost 2014; 112: 1036-1043.
15 Dennis J, Kassam I, Morange P-E. et al. Genetic determinants of tissue factor pathway inhibitor plasma levels. Thromb Haemost 2015; 114: 245-257.
16 Morange P, Suchon P, Tregouet DA. Genetics of Venous Thrombosis: update in 2015. Thromb Haemost 2015; 114: 910-919.
17 Cunha MLR, Meijers JCM, Middeldorp S. Introduction to the analysis of next generation sequencing data and its application to venous thromboembolism. Thromb Haemost 2015; 114: 920-932.