Classic thrombophilic gene variants

Thrombosis and Haemostasis

Volumn 114, Issue 5, 2015, Pages 885-889

  Mannucci, Pier Mannuccio ^a   Franchini, Massimo ^b  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b CARLO POMA HOSPITAL   (Italy)

Author keywords

ABO blood group; Factor V Leiden; Inherited thrombophilia; Natural anticoagulants; Prothrombin mutation

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN; ANTITHROMBIN; BIOLOGICAL MARKER; BLOOD CLOTTING FACTOR 5;

ANTITHROMBIN DEFICIENCY; ARTICLE; BLOOD GROUP; BLOOD GROUP ABO SYSTEM; GENE MUTATION; GENETIC VARIABILITY; HUMAN; PREVALENCE; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; RISK FACTOR; THROMBOPHILIA; VENOUS THROMBOEMBOLISM; ANIMAL; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; METABOLISM;

ANIMALS; ANTITHROMBINS; BIOMARKERS; FACTOR V; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, GENETIC; PROTHROMBIN; RISK FACTORS; THROMBOPHILIA; VENOUS THROMBOEMBOLISM;

EID: 84946553053     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH15-02-0141     Document Type: Article

References (58)

1. Martinelli I, Bucciarelli P, Mannucci PM. Thrombotic risk factors: basic pathophysiology. Crit Care Med 2010; 38 (Suppl 2): S3-S9.
2. Previtali E, Bucciarelli P, Passamonti SM, et al. Risk factors for venous and arterial thrombosis. Bloood Transfus 2011; 9: 120–138.
3. Martinelli I, De Stefano V, Mannucci PM. Inherited risk factors for venous thromboembolism. Nat Rev Cardiol 2014; 11: 140–156.
4. Virchow R. Phlogose und Thrombose im Gefäßsystem; Gesammelte Abhandlungen zur Wissenschaftlichen Medizin. Frankfurt, Staatsdruckerei, 1856.
5. Lippi G, Franchini M, Targher G. Arterial thrombus formation in cardiovascular disease. Nat Rev Cardiol 2011; 8: 502–512.
6. Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost 2009; 7 (Suppl 1): 301–304.
7. Wu O, Bayoumi N, Vickers MA, Clark P. ABO(H) blood groups and vascular disease: a systematic review and meta-analysis. J Thromb Haemost 2008; 6: 62–69.
8. Franchini M, Mannucci PM. ABO blood group and thrombotic vascular disease. Thromb Haemost 2014; 112: 1103–1109.
9. Mammen EF. Antithrombin: its physiological importance and role in DIC. Semin. Thromb Haemost 1998; 24: 19–25.
10. Roemisch J, Gray E, Hoffmann JN, et al. Antithrombin: a new look at the actions of a serine protease inhibitor. Blood Coagul Fibrinolysis 2002; 13: 657–670.
11. Lane DA, Kunz G, Olds RJ, et al. Molecular genetics of antithrombin deficiency. Blood Rev 1996; 10: 59–74.
12. Franchini M, Veneri D, Salvagno GL, et al. Inherited thrombophilia. Crit Rev Clin Lab Sci 2006; 43: 249–290.
13. Mammen EF. Clinical relevance of antithrombin deficiencies. Semin. Hematol 1995; 32 (4 Suppl 2): 2–6.
14. Buchanan GS, Rodgers GM, Branch DW. The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. Best Pract Res Clin Obst Gynecol 2003; 17: 397–411.
15. Wells PS, Blajchman MA, Henderson P, et al. Prevalence of antithrombin deficiency in healthy blood donors: a cross-sectional study. Am J Hematol 1994; 45: 321–324.
16. Tait RC, Walker ID, Perry DJ, et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol 1994; 87: 106–112.
17. De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: pathogenesis, clinical syndromes, and management. Blood 1996; 87: 3531–3544.
18. Lane DA, Mannucci PM, Bauer KA, et al. Inherited thrombophilia: part 1. Thromb Haemost 1996; 76: 651–662.
19. Finazzi G, Caccia R, Barbui T. Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases. Thromb Haemost 1987; 58: 1094.
20. Kisiel W. Human plasma protein C. Isolation, characterization and mechanism of activation by alpha-thrombin. J Clin Invest 1979; 64: 761–769.
21. Simioni P. The molecular genetics of familial venous thrombosis. Bailliere’s Clin Haematol 1999; 12: 479–503.
22. Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981, 68: 1370–1373.
23. Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995; 73: 876–889.
24. Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Gen 2001; 109: 369–384.
25. Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med 1984; 311: 1525–1528.
26. Borgel D, Gandrille S, Aiach M. Protein S deficiency. Thromb Haemost 1997; 78: 351–356.
27. García de Frutos P, Fuentes-Prior P, Hurtado B, et al. Molecular basis of protein S deficiency. Thromb Haemost 2007; 98: 543–556.
28. Lind-Halldén C, Dahlen A, Hillarp A, et al. Small and large PROS1 deletions but no other types of rearrangements detected in patients with protein S deficiency. Thromb Haemost 2012; 108: 94–100.
29. Pintao MC, Garcia AA, Borgel D, et al. Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency. Hum Genet 2009; 126: 449–456.
30. Johansson AM, Hillarp A, Säll T, et al. Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. Thromb Haemost 2005; 94: 951–957.
31. 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 USA 1993; 90: 1004–1008.
32. Koster T, Rosendaal FR, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503–1506.
33. Bertina RM, Koeleman BPC, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64–67.
34. Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with a single point-mutation at Arg506 of factor V. Lancet 1994; 343: 1535–1536.
35. Norstrøm E, Thorelli E, Dahlbäck B. Functional characterization of recombinant FV Hong Kong and FV Cambridge. Blood 2002; 100: 524–530.
36. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133–1134.
37. Rosendaal FR, Koster T, Vandenbroucke JP, et al. High risk of thrombosis in patients homozygous for factor V Leiden. Blood 1995; 85: 1504–1508.
38. Cushman M, Tsai AW, White RH, et al. Deep vein thrombosis and pulmonary embolism in two cohorts: The Longitudinal Investigation of Thromboembolism Etiology. Am J Med 2004; 117: 19–25.
39. 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.
40. Rosendaal FR, Doggen CJ, Zivelin A, et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998; 79: 706–708.
41. Storry JR, Olsson ML: The ABO blood group system revisited: a review and update. Immunohematology 2009; 25: 48–59.
42. Yamamoto F, Clausen H, White T, et al. Molecular genetic basis of the histoblood group ABO system. Nature 1990; 345: 229–233.
43. Yamamoto F, Cid E, Yamamoto M, et al. ABO research in the modern era of genomics. Transfus Med Rev 2012; 26: 103–118.
44. Lowe J. The blood group-specific human glycosyltransferases. Baillieres Clin Haematol 1993; 6: 465–490.
45. Liumbruno GM, Franchini M. Beyond immunohaematology: the role of the ABO blood group in human diseases. Blood Transfus 2013; 11: 491–499.
46. Garratty G. Blood groups and disease: a historical perspective. Transfus Med Rev 2000; 14: 291–301.
47. Anstee DJ. The relationship between blood groups and disease. Blood 2010; 115: 4635–4643.
48. Gill JC, Endres-Brooks J, Bauer PJ, et al. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691–1695.
49. Jenkins PV, O’Donnell JS. ABO blood group determines plasma von Willebrand factor levels: a biologic function after all? Transfusion 2006; 46: 1836–1844.
50. Gallinaro L, Cattini MG, Sztukowska M, et al. A shorter von Willebrand factorsurvival in O blood group subjects explains how ABO determinants influence plasma von Willebrand factor. Blood 2008; 111: 3540–3545.
51. O’Donnell JS, McKinnon TA, Crawley JT, et al. Bombay phenotype is associated with reduced plasma-VWF levels and an increased susceptibility to ADAMTS13 proteolysis. Blood 2005; 106: 1988–1991.
52. Franchini M, Mannucci PM. ABO blood group and thrombotic vascular disease. Thromb Haemost 2014; 112: 1103–1109.
53. Wu O, Bayoumi N, Vickers MA, et al. ABO(H) blood groups and vascular disease: a systematic review and meta-analysis. J Thromb Haemost 2008; 6: 62–69.
54. 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 Haemost 2012; 38: 535–548.
55. Dentali F, Franchini M. Recurrent venous thromboembolism: a role for ABO blood group? Thromb Haemost 2013; 110: 1110–1111.
56. Gandara E, Kovacs MJ, Kahn KR, et al. Non-OO blood type influences the risk of recurrent venous thromboembolism. A cohort study. Thromb Haemost 2013; 110: 1172–1179.
57. Coppola A, Tufano A, Cerbone AM, et al. Inherited thrombophilia: implications for prevention and treatment of venous thromboembolism. Semin Thromb Haemost 2009; 35: 683–694.
58. Franchini M, Lippi G. The intriguing relationship between ABO blood group, cardiovascular disease and cancer. BMC Med 2015; 13: 7.