The HR2 haplotype of factor V: Effects on factor V levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis

Thrombosis and Haemostasis

Volumn 83, Issue 4, 2000, Pages 577-582

  De Visser, Marieke C H ^a   Guasch, Joan F ^a   Kamphuisen, Pieter W ^a   Vos, Hans L ^a   Rosendaal, Frits R ^a   Bertina, Rogier M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

APC resistance; Factor V; HR2 haplotype; Venous thrombosis

Indexed keywords

ACTIVATED PROTEIN C; ANTIGEN; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DEEP VEIN THROMBOSIS; EXON; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; VEIN THROMBOSIS;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 1; DNA MUTATIONAL ANALYSIS; EXONS; FACTOR V; FACTOR VIII; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; ODDS RATIO; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); RISK FACTORS; THROMBOPHILIA; VENOUS THROMBOSIS;

EID: 0034127421     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (50)

1. Jenny RJ, Pittman DD, Took JJ, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ, Mann KG, Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci USA 1987; 84: 4846-50.
2. Rosing J, Tans G, Coagulation factor V: An old star shines again. Thromb Haemost 1997; 78: 427-33.
3. Mann KG, Jenny RJ, Krishnaswamy S. Cofactor proteins in the assembly and expression of hlood clotting enzyme complexes. Annu Rev Biochem 1988; 57: 915-56.
4. Kalafatis M, Rand MD, Mann KG. The mechanism of inactivation of human factor V and human factor Va by activated protein C. J Biol Chem 1994; 269: 31869-80.
5. Shen L, Dahlhäck B, Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa. J Biol Chem 1994; 269: 18735-8.
6. Lu D, Kalafatis M, Mann KG, Long GL. Comparison of activated protein C/protein S-mediated inactivation of human factor VIII and factor V. Blood 1996; 87: 4708-17.
7. Varadi K, Rosing J, Tans G, Pabinger I, Keil B, Schwarz HP. Factor V enhances the cofacfor function of protein S in the APC-mediated inactivation of factor VIII: Influence of the factor V R506Q mutation. Thromb Haemost 1996; 76: 208-14.
8. 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 cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-8.
9. Bertina RM, Koeleman BPC, 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: 64-7.
10. R506Q. J Biol Chem 1995; 270: 4053-7.
11. 506-factor V. Blood 1995; 85:3405-11.
12. R506Q by activated protein C. J Biol Chem 1995; 270: 21158-66.
13. 506 to Gln mutation in the factor V gene. Biochem J 1996; 313: 467-72.
14. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 332: 912-7.
15. 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: 1504-8.
16. de Visser MCH, Rosendaal FR, Bertina RM. A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis. Blood 1999; 93: 1271-6.
17. Cripe DC, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-85.
18. Lunghi B, Iacoviello L, Gemmati D, Dilasio MG, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Marchetti G, Bernardi F. Detection of new polymorphic markers in the factor V gene: Association with factor V levels in plasma. Thromb Haemost 1996; 75: 45-8.
19. Bernardi F. Faioni EM, Castoldi E, Lunghi B, Castaman G, Sacchi E, Mannucci PM. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90: 1552-7.
20. Alhene-Gelas M, Nicaud V, Gandrille S, Van Dreden P, Amiral J. Aubry ML, Fiessinger JN, Emmerich J, Aiach M. The factor V gene A4070G mutation and the risk of venous thrombosis. Thromb Haemost 1999; 81: 193-7.
21. Castaman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V. Br J Haematol 1997; 99: 257-61.
22. Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-6.
23. Kamphuisen PW, Rosendaal FR, Eikenboom JCJ, Bos R, Bertina RM. Factor V antigen levels and venous thrombosis: Risk profile, interaction with factor V Leiden and relation with factor VIII antigen levels. Arterioscler Thromb Vasc Biol 2000, in press.
24. 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: 152-5.
25. Bertina RM, Van der Marel-van Nieuwkoop W, Loeliger EA. Spectrophotometric assays of prothrombin in plasma of patients using oral anticoagulants. Thromb Haemost 1979; 42: 1296-305.
26. Koster T, Rosendaal FR, Reitsma PH, van der Velden PA, Briët E, Vandenbroucke JP. Factor VII and fibrinogen levels as risk factors for venous thrombosis: a case control study of plasma levels and DNA polymorphisms - Leiden Thrombophilia Study (LETS). Thromh Haemost 1994; 71: 719-22.
27. Deutz-Terlouw PP, Ballering L, van Wijngaarden A, Bertina RM. Two ELISA's for measurement of protein S. and their use in the laboratory diagnosis of protein S deficiency. Clin Chim Ada 1989; 186: 321-34.
28. Amiral J, Grosley B, Boyer-Neumann C, Marfaing-Koka A, Peynaud-Debayle E, Wolf M, Meyer D. New direct assay of free protein S antigen using two distinct monoclonal antibodies specific for the free form. Blood Coagul Fihrinolysis 1994; 5: 179-86.
29. Wolf M. Boyer-Neumann C, Peynaud-Debayle E, Marfaing-Koka A, Amiral J, Meyer D. Clinical applications of a direct assay of free protein S antigen using monoclonal antibodies. A study of 59 cases. Blood Coagul Fibrinolysis 1994; 5: 187-92.
30. Koster T, Rosendaal FR, Briët E, van der Meer FJ, Colly LP, Trienekens PH, Poort SR, Reitsma PH, 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: 2756-61.
31. Guasch JF, Cannegieter S, Reitsma PH, Van 't Veer-Korthof ET, Bertina RM. Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene. Br J Haematol 1998; 101: 32-9.
32. Woolf B. On estimating the relation between blood group and disease. Am J Hum Genet 1955; 19: 251-3.
33. de Ronde H, Bertina RM. Laboratory diagnosis of APC-resistance: A critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost 1994; 72: 880-6.
34. Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-8.
35. Cox MJ, Rees DC, Martinson JJ, Clegg JB. Evidence for a single origin of factor V Leiden. Br J Haematol 1996; 92: 1022-5.
36. Zöller B, Hillarp A. Dahlbäck B. Activated protein C resistance caused by a common factor V mutation has a single origin. Thromb Res 1997; 85: 237-43.
37. Castoldi E, Lunghi B, Mingozzi F. Ioannou P, Marchetti G, Bernardi F. New coagulation factor V gene polymorphisms define a single and infrequent haplotype underlying the factor V Leiden mutation in Mediterranean populations and Indians. Thromb Haemost 1997; 78: 1037-41.
38. Lunghi B, Castoldi E, Mingozzi F, Bernardi F. A new factor V gene polymorphism (His 1254 Arg) present in subjects of African origin mimics the R2 polymorphism (His 1299 Arg). Blood 1998; 91: 364-5.
39. Castoldi E, Rosing J, Lunghi B, Hoekema L, Girelli D, Mingozzi F, Ferraresi P, Friso S. Corrocher R, Tans G. Bernardi F. Factor V gene mutations (R2 gene) are associated with coronary artery disease in elderly people. Thromb Haemost 1999; Suppl: 509.
40. Luddington R, Jackson A, Pannerselvam S, Brown K, Baglin T. The factor V HR2 haplotype: Risk of venous thromboembolism, factor V levels and resistance to activated protein C. Thromb Haemost 1999; Suppl: 266.
41. 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: 3698-703.
42. Faioni EM, Franchi F, Bucciarelli P, Margaglione M. De Stefano V, Castaman G, Finazzi G, Casorelli I, Mannucci PM. The HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor R506Q. Throbh Haemost 1999; Suppl: 418.
43. 2: Properties in the procoagulant and anticoagulant pathways. Biochemistry 1997; 36: 3331-5.
44. Hoekema L, Castoldi E, Tans G, Manzato F, Bernardi F, Rosing J. Characterization of blood coagulation factor V (a) encoded by the R2 gene. Thromb Haemost 1999; Suppl: 684.
45. Henkens CMA, Bom VJJ, van der Meer J. Lowered APC-sensitivity ratio related to increased factor VIII-clotting activity. Thromh Haemost 1995; 74: 1198-9.
46. Laffan MA, Manning R. The influence of factor VIII on measurement of activated protein C resistance. Blood Coagul Fibrinolysis 1996; 7: 761-5.
47. Greengard JS, Alhene-Gelas M, Gandrille S, Emmerich J, Aiach M, Griffin JH. Pseudo-homozygous activated protein C resistance due to coinheritance of heterozygous factor V-R506Q and type I factor V deficiency associated with thrombosis. Thromb Haemost 1995; 73: 1361.
48. Simioni P, Scudeller A, Radossi P, Gavasso S, Girolami B, Tormene D, Girolami A. "Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: Report of two cases belonging to two unrelated kindreds. Thromb Haemost 1996; 75: 422-6.
49. Zehnder JL, Jain M. Recurrent thrombosis due to compound heterozygosity for factor V Leiden and Factor V deficiency. Blood Coagul Fibrinolysis 1996; 7: 361-2.
50. Guasch JF, Lensen RPM, Bertina RM. Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance. Thromb Haemost 1997; 77: 252-7.