• 1
    Naess IA, Christiansen SC, Romundstad P, Cannegieter SC, Rosendaal FR, Hammerstrøm J. Incidence and mortality of venous thrombosis: a population-based study. J Thromb Haemost 2007; 5: 6929.
  • 2
    Kyrle PA, Minar E, Bialonczyk C, Hirschl M, Weltermann A, Eichinger S. The risk of recurrent venous thromboembolism in men and women. N Engl J Med 2004; 350: 255863.
  • 3
    Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 51630.
  • 4
    Jick H, Slone D, Westerholm B, Inman WHW, Vessey MP, Shapiro S, Lewis GP, Worcester J. Venous thromboembolic disease and ABO blood type. Lancet 1969; i: 53942.
  • 5
    Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 13703.
  • 6
    Schwarz HP, Fischer M, Hopmeier P, Batard MA, Griffin JH. Plasma protein S deficiency in familial thrombotic disease. Blood 1984; 64: 1297300.
  • 7
    Bertina RM, Koeleman RPC, Koster T, Rosendaal FR, Dirven RJ, De Ronde H, Van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 647.
  • 8
    Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. 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: 3698703.
  • 9
    Smith NL, Hindorff LA, Heckbert SR, Lemaitre RN, Marciante KD, Rice K, Lumley T, Bis JC, Wiggins KL, Rosendaal FR, Psaty BM. Association of genetic variations with nonfatal venous thrombosis in postmenopausal women. JAMA 2007; 297: 48998.
  • 10
    Bezemer ID, Bare LA, Doggen CJ, Arellano AR, Tong C, Rowland CM, Catanese J, Young BA, Reitsma PH, Devlin JJ, Rosendaal FR. Gene variants associated with deep vein thrombosis. JAMA 2008; 299: 130614.
  • 11
    Tait RC, Walker ID, Perry DJ, Islam SI, Daly ME, McCall F, Conkie JA, Carrell RW. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol 1994; 87: 10612.
  • 12
    Tait RC, Walker ID, Reitsma PH, Islam SI, McCall F, Poort SR, Conkie JA, Bertina RM. Prevalence of protein C deficiency in the healthy population. Thromb Haemost 1995; 73: 8793.
  • 13
    McColl M, Tait RC, Walker ID, Perry DJ, McCall F, Conkie JA. Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: correlation with type of defect, family history, and absence of the factor V Leiden mutation. Blood Coagul Fibrinolysis 1996; 7: 68994.
  • 14
    Demers C, Ginsberg JS, Hirsh J, Henderson P, Blajchman MA. Thrombosis in antithrombin III-deficient persons: report of a large kindred and literature review. Ann Intern Med 1992; 116: 75461.
  • 15
    Allaart CF, Poort SR, Rosendaal FR, Reitsma PH, Bertina RM, Briët E. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. Lancet 1993; 341: 1348.
  • 16
    Vossen CY, Conard J, Fontcuberta J, Makris M, Van Der Meer FJ, Pabinger I, Palareti G, Preston FE, Scharrer I, Souto JC, Svensson P, Walker ID, Rosendaal FR. Familial thrombophilia and lifetime risk of venous thrombosis. J Thromb Haemost 2004; 2: 152632.
  • 17
    Heijboer H, Brandjes DPM, Büller HR, Sturk A, Ten Cate JW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med 1990; 323: 151216.
  • 18
    Koster T, Rosendaal FR, Briët E, Van der Meer FJM, Colly LP, Trienekens PH, Poort SR, Vandenbroucke JP. Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study). Blood 1995; 85: 275661.
  • 19
    Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM. APC-resistance as an additional risk factor for thrombosis in protein C deficient families. Blood 1994; 84: 10315.
  • 20
    Zöller B, Berntsdotter A, Garcia de Frutos P, Dahlbäck B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 351823.
  • 21
    Hasstedt SJ, Bovill EG, Callas PW, Long GL. An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. Am J Hum Genet 1998; 63: 56976.
  • 22
    Dahm A, Van Hylckama Vlieg A, Bendz B, Rosendaal F, Bertina RM, Sandset PM. Low levels of tissue factor pathway inhibitor (TFPI) increase the risk of venous thrombosis. Blood 2003; 101: 438792.
  • 23
    Espana F, Medina P, Navarro S, Estelles A, Aznar J. Inherited abnormalities in the protein C activation pathway. Pathophysiol Haemost Thromb 2002; 32: 2414.
  • 24
    Uitte de Willige S, Van Marion V, Rosendaal FR, Vos HL, De Visser MC, Bertina RM. Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis. J Thromb Haemost 2004; 2: 130510.
  • 25
    Saposnik B, Lesteven E, Lokajczyk A, Esmon CT, Aiach M, Gandrille S. Alternative mRNA is favored by the A3 haplotype of the EPCR gene PROCR and generates a novel soluble form of EPCR in plasma. Blood 2008; 111: 344251.
  • 26
    Van Hylckama Vlieg A, Montes R, Rosendaal FR, Hermida J. Autoantibodies against endothelial protein C receptor and the risk of a first deep vein thrombosis. J Thromb Haemost 2007; 5: 144954.
  • 27
    Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85: 15048.
  • 28
    Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognised mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 10048.
  • 29
    Koster T, Rosendaal FR, De Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to a poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 15036.
  • 30
    Lensen R, Rosendaal F, Vandenbroucke J, Bertina R. Factor V Leiden: the venous thrombotic risk in thrombophilic families. Br J Haematol 2000; 110: 93945.
  • 31
    Middeldorp S, Henkens CM, Koopman MM, Van Pampus EC, Hamulyak K, Van Der MJ, Prins MH, Buller HR. The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis. Ann Intern Med 1998; 128: 1520.
  • 32
    Lensen RP, Bertina RM, De Ronde H, Vandenbroucke JP, Rosendaal FR. Venous thrombotic risk in family members of unselected individuals with factor V Leiden. Thromb Haemost 2000; 83: 81721.
  • 33
    Emmerich J, Rosendaal FR, Cattaneo M, Margaglione M, De Stefano V, Cumming T, Arruda V, Hillarp A, Reny JL. Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism – pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. Thromb Haemost 2001; 86: 80916.
  • 34
    Koster T, Blann AD, Briët E, Vandenbroucke JP, Rosendaal FR. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 1995; 345: 1525.
  • 35
    Morelli VM, De Visser MC, Vos HL, Bertina RM, Rosendaal FR. ABO blood group genotypes and the risk of venous thrombosis: effect of factor V Leiden. J Thromb Haemost 2005; 3: 1835.
  • 36
    Uitte de Willige S, De Visser MC, Houwing-Duistermaat JJ, Rosendaal FR, Vos HL, Bertina RM. Genetic variation in the fibrinogen gamma gene increases the risk for deep venous thrombosis by reducing plasma fibrinogen gamma’ levels. Blood 2005; 106: 417683.
  • 37
    Den Heijer M, Lewington S, Clarke R. Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studies. J Thromb Haemost 2005; 3: 2929.
  • 38
    Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR. No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study. Arch Intern Med 2007; 167: 497501.
  • 39
    Van Hylckama Vlieg A, Komanasin N, Ariens RA, Poort SR, Grant PJ, Bertina RM, Rosendaal FR. Factor XIII Val34Leu polymorphism, factor XIII antigen levels and activity and the risk of deep venous thrombosis. Br J Haematol 2002; 119: 16975.
  • 40
    Vossen CY, Rosendaal FR. The protective effect of the factor XIII Val34Leu mutation on the risk of deep venous thrombosis is dependent on the fibrinogen level. J Thromb Haemost 2005; 3: 11023.
  • 41
    Spek CA, Koster T, Rosendaal FR, Bertina RM, Reitsma PH. Genotypic variation in the promoter region of the protein C gene is associated with plasma protein C levels and thrombotic risk. Arterioscler Thromb Vasc Biol 1995; 15: 21418.
  • 42
    Pomp ER, Doggen CJ, Vos HL, Reitsma PH, Rosendaal FR. Polymorphisms in the protein C gene as risk factor for venous thrombosis. Thromb Haemost 2009; 101: 627.