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Thromb Haemost 2016; 116(04): 592-594
DOI: 10.1160/TH16-08-0634
Invited Editorial Focus
Schattauer GmbH

Matching genes with constitution and environment

Sam Schulman
1   Department of Medicine, McMaster University and Thrombosis and Atherosclerosis Research Institute, Hamilton, Ontario, Canada
› Author Affiliations
Further Information

Publication History

Received: 17 August 2016

Accepted: 17 August 2016

Publication Date:
20 November 2017 (online)

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  • References

  • 1 Rosendaal FR.. Venous thrombosis: a multicausal disease. Lancet 1999; 353: 1167-1173.
    CrossrefPubMedGoogle Scholar
  • 2 Egeberg O.. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diath Haemorh 1965; 13: 515-530.
    PubMedGoogle Scholar
  • 3 Bucciarelli P, Rosendaal FR, Tripodi A. et al. Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study. Arterioscler Thromb Vasc Biol 1999; 19: 1026-1033.
    CrossrefPubMedGoogle Scholar
  • 4 De Stefano V, Leone G, Mastrangelo S. et al Thrombosis during pregnancy and surgery in patients with congenital deficiency of antithrombin III, protein C, protein S. Thromb Haemost 1994; 71: 799-800.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 5 Conard J, Horellou MH, Van Dreden P. et al. Thrombosis and pregnancy in congenital deficiencies in AT III, protein C or protein S: study of 78 women. Thromb Haemost 1990; 63: 319-320.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 6 van Boven HH, Vandenbroucke JP, Westendorp RG. et al Mortality and causes of death in inherited antithrombin deficiency. Thromb Haemost 1997; 77: 452-455.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 7 Martinelli I, Mannucci PM, De Stefano V. et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92: 2353-2358.
    PubMedGoogle Scholar
  • 8 Griffin JH, Evatt B, Zimmerman TS. et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 1370-1373.
    CrossrefPubMedGoogle Scholar
  • 9 Comp PC, Nixon RR, Cooper MR. et al. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984; 74: 2082-2088.
    CrossrefPubMedGoogle Scholar
  • 10 Schwarz HP, Fischer M, Hopmeier P. et al. Plasma protein S deficiency in familial thrombotic disease. Blood 1984; 64: 1297-1300.
    PubMedGoogle Scholar
  • 11 Dahlbäck 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.
    CrossrefPubMedGoogle Scholar
  • 12 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.
    CrossrefPubMedGoogle Scholar
  • 13 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.
    PubMedGoogle Scholar
  • 14 Tang W, Teichert M, Chasman DI. et al. A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Genet Epidemiol 2013; 37: 512-521.
    CrossrefPubMedGoogle Scholar
  • 15 Bruzelius M, Bottai M, Sabater-Lleal M. et al. Predicting venous thrombosis in women using a combination of genetic markers and clinical risk factors. J Thromb Haemost 2015; 13: 219-227.
    CrossrefPubMedGoogle Scholar
  • 16 Sabater-Lleal M, Martinez-Perez A, Buil A. et al A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI Level and activated partial thromboplastin time. Arterioscler Thromb Vasc Biol 2012; 32: 2008-2016.
    CrossrefPubMedGoogle Scholar
  • 17 Uitte de Willige S, de Visser MC, Houwing-Duistermaat JJ. et al Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen gamma’ levels. Blood 2005; 106: 4176-4183.
    CrossrefPubMedGoogle Scholar
  • 18 Heit JA, Armasu SM, Asmann YW. et al. A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. J Thromb Haemost 2012; 10: 1521-1531.
    CrossrefPubMedGoogle Scholar
  • 19 Vasan SK, Rostgaard K, Majeed A. et al. ABO blood group and risk of thromboembolic and arterial disease: a study of 1.5 million blood donors. Circulation 2016; 133: 1449-1457.
    CrossrefPubMedGoogle Scholar
  • 20 Dentali F, Sironi AP, Ageno W. et al. Non-O blood type is the commonest genetic risk factor for VTE: results from a meta-analysis of the literature. Semin Thromb Hemost 2012; 38: 535-548.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 21 Germain M, Chasman DI, de Haan H. et al. Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism. Am J Hum Genet 2015; 96: 532-542.
    CrossrefPubMedGoogle Scholar
  • 22 Heit JA, Phelps MA, Ward SA. et al. Familial segregation of venous thromboembolism. J Thromb Haemost 2004; 02: 731-736.
    CrossrefPubMedGoogle Scholar
  • 23 Lutsey PL, Cushman M, Heckbert SR. et al. Longer legs are associated with greater risk of incident venous thromboembolism independent of total body height. The Longitudinal Study of Thromboembolism Etiology (LITE). Thromb Haemost 2011; 106: 113-120.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 24 Enga KF, Braekkan SK, Hansen-Krone IJ. et al. Emotional states and future risk of venous thromboembolism: the Tromso Study. Thromb Haemost 2012; 107: 485-493.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 25 Lippi G, Mattiuzzi C, Franchini M.. Sleep apnea and venous thromboembolism. A systematic review. Thromb Haemost 2015; 114: 958-963.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 26 Alonso-Fernandez A, Garcia Suquia A, de la Pena M. et al Obstructive sleep apnea is a risk factor for recurrent venous thromboembolism. Chest. 2016 Epub ahead of print
    PubMedGoogle Scholar
  • 27 Glynn RJ, Danielson E, Fonseca FA. et al. A randomized trial of rosuvastatin in the prevention of venous thromboembolism. N Engl J Med 2009; 360: 1851-1861.
    CrossrefPubMedGoogle Scholar
  • 28 Desai CS, Martin SS, Blumenthal RS.. Non-cardiovascular effects associated with statins. Br Med J 2014; 349: g3743.
    CrossrefPubMedGoogle Scholar
  • 29 Bloemenkamp KW, Rosendaal FR, Helmerhorst FM. et al. Enhancement by factor V Leiden mutation of risk of deep-vein thrombosis associated with oral contraceptives containing a third-generation progestagen. Lancet 1995; 346: 1593-1596.
    CrossrefPubMedGoogle Scholar
  • 30 Martinelli I, Sacchi E, Landi G. et al. High risk of cerebral-vein thrombosis in carriers of a prothrombin-gene mutation and in users of oral contraceptives. N Engl J Med 1998; 338: 1793-1797.
    CrossrefPubMedGoogle Scholar
  • 31 Legnani C, Cini M, Cosmi B. et al. Risk of deep vein thrombosis: interaction between oral contraceptives and high factor VIII levels. Haematologica 2004; 89: 1347-1351.
    PubMedGoogle Scholar
  • 32 Caprini JA, Arcelus JI, Hasty JH. et al. Clinical assessment of venous thromboembolic risk in surgical patients. Semin Thromb Hemost 1991; 17: 304-312.
    PubMedGoogle Scholar
  • 33 Rogers Jr. SO, Kilaru RK, Hosokawa P. et al. Multivariable predictors of postoperative venous thromboembolic events after general and vascular surgery: results from the patient safety in surgery study. J Am Coll Surg 2007; 204: 1211-1221.
    CrossrefPubMedGoogle Scholar
  • 34 Khorana AA, Kuderer NM, Culakova E. et al. Development and validation of a predictive model for chemotherapy-associated thrombosis. Blood 2008; 111: 4902-4907.
    CrossrefPubMedGoogle Scholar
  • 35 Barbar S, Noventa F, Rossetto V. et al. A risk assessment model for the identification of hospitalized medical patients at risk for venous thromboembolism: the Padua Prediction Score. J Thromb Haemost 2010; 08: 2450-2457.
    CrossrefPubMedGoogle Scholar
  • 36 Mahan CE, Liu Y, Turpie AG. et al. External validation of a risk assessment model for venous thromboembolism in the hospitalised acutely-ill medical patient (VTE-VALOURR). Thromb Haemost 2014; 112: 692-699.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 37 de Haan HG, Bezemer ID, Doggen CJ. et al Multiple SNP testing improves risk prediction of first venous thrombosis. Blood 2012; 120: 656-663.
    CrossrefPubMedGoogle Scholar
  • 38 Soria JM, Morange PE, Vila J. et al. Multilocus genetic risk scores for venous thromboembolism risk assessment. J Am Heart Assoc 2014; 03: e001060.
    CrossrefPubMedGoogle Scholar
  • 39 Crous-Bou M, de Vivo I, Camargo Jr. CA. et al Interactions of established risk factors and a GWAS-based genetic risk score on the risk of venous thromboembolism. Thromb Haemost 2016; 116: 705-713.
    Article in Thieme ConnectPubMedGoogle Scholar