A FV multiallelic marker detects genetic components of APC resistance contributing to venous thromboembolism in FV Leiden carriers

Thrombosis and Haemostasis

Volumn 89, Issue 6, 2003, Pages 983-989

  Mingozzi, Federico ^a   Legnani, Cristina ^b   Lunghi, Barbara ^b   Scanavini, Daniela ^a   Castoldi, Elisabetta ^a   Palareti, Gualtiero ^b   Marchetti, Giovanna ^a   Bernardi, Francesco ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

APC resistance; FV haplotypes; FV Leiden carriership; Microsatellite marker; Venous thromboembolism

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5 LEIDEN;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; SENSITIVITY ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOMATOLOGY; THROMBOEMBOLISM; THROMBOPHILIA;

EID: 0038489332     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613399     Document Type: Article

References (38)

1. 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: 1004-8.
2. Svensson PJ, Dahlback B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-22.
3. Lane DA, Grant PJ. Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease. Blood 2000; 95: 1517-32.
4. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-34.
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: 64-7.
6. 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.
7. Kiechl S, Muigg A, Santer P, et al.. Poor response to activated protein C as a prominent risk predictor of advanced atherosclerosis and arterial disease. Circulation 1999; 99: 614-9.
8. Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 1998; 91: 1135-9.
9. Heeb MJ, Rehemtulla A, Mousalli M, Kojima Y, Kaufman RJ. Importance of individual activated protein C cleavage site regions in coagulation factor V for factor Va inactivation and for factor Xa activation. Eur J Biochem 1999; 260: 4.
10. Williamson D, Brown K, Luddington R, Baglin C, Baglin T. Factor V Cambridge: A new mutation (Arg306→Thr) associated with resistance to activated protein C. Blood 1998; 91: 1140-4.
11. Bernardi F, Faioni EM, Castoldi E, et al. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90: 1552-7.
12. Alhenc-Gelas M, Nicaud V, Gandrille S, et al.. The factor V gene A4070G mutation and the risk of venous thrombosis. Thromb Haemost 1999; 81: 193-7.
13. De Visser MC, Guasch JF, Kamphuisen PW, Vos HL, Rosendaal FR, Bertina RM. The HR2 haplotype of factor V: Effects on factor V levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis. Thromb Haemost 2000; 83: 577-82.
14. Faioni EM, Franchi F, Bucciarelli P, et al.. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (Factor V Leiden). Blood 1999; 94: 3062-6.
15. Castoldi E, Simioni P, Kalafatis, M, et al.. Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a thrombophilic family. Blood 2000; 96: 1443-8.
16. Rosing J, Tans G. Coagulation factor V: An old star shines again. Thromb Haemost 1997; 78: 427-33.
17. Mann KG. Biochemistry and physiology of blood coagulation. Thromb Haemost. 1999; 82: 165-74.
18. Jenny RJ, Pittman DD, Toole JJ, et al.. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci U S A 1987; 84: 4846-50.
19. Cripe LD, Moore KD, Kane WH. Structure of the gene for human coagulation factor V. Biochemistry 1992; 31: 3777-85.
20. 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: 817-21.
21. Rosendaal FR. Venous thrombosis: A multicausal disease. Lancet 1999; 353: 1167-73.
22. Castoldi E, Lunghi B, Mingozzi F, Simioni P, Girolami A, Bernardi F. A highly polymorphic microsatellite in the factor V gene is an informative tool for the study of factor V-related disorders. Br J Haematol 2001; 114: 868-70.
23. 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.
24. Lunghi B, Iacoviello L, Gemmati D, et al.. Detection of new polymorphic markers in the factor V gene: Association with factor V levels in plasma. Thromb Haemost 1996; 75: 45-8.
25. Shen NLL, Fan ST, Pyati J, Graf R, LaPolla RJ, Edgington TS. The serine protease cofactor factor V is synthesized by lymphocytes. J Immunol 1993; 150: 2992-3001.
26. Siegel S, Castellan NJ. Non Parametric Statistics for the Behavioural Sciences. 2nd ed. New York: McGraw-Hill, 1988.
27. Chakravarti A, Buetow KH, Antonarakis SE, Waber PG, Boehm CD, Kazazian HH. Non-uniform recombination within the human beta-globin gene cluster. Am J Hum Genet 1984; 36: 1239-58.
28. Ellergen H. Heterogeneous mutation processes in human microsatellite DNA sequences. Nat Genet 2000; 24: 400-2.
29. Zivelin A, Griffin JH, Xu X, et al.. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 1997; 89: 397-402.
30. 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.
31. Laffan MA, Manning R. The influence of factor VIII on measurement of activated protein C resistance. Blood Coagul Fibrinolysis 1996; 7: 761-5.
32. Kostka H, Siegert G, Schwarz T, et al.. Frequency of polymorphisms in the B-domain of factor V gene in APC-resistant patients. Thromb Res 2000; 99: 539-47.
33. Siegert G, Kostka H, Gehrisch S, Schwarz T, Schellong S, Jaross W. Method-dependent influence of certain polymorphisms in the factor V B-domain on the response to activated protein C. Blood Coagul Fibrinolysis 2000; 11: 519-27.
34. Le Cam-Duchez V, Fretigny M, Chrétien MH, Borg JY. Influence of coagulant factor V and factor FVIII plasma levels and factor V A4070G polymorphism (FV-HR2) on modified activated protein C resistance (APC-R) tests. Abstract no 1489, XVIIIth Congress of the International Society on Thrombosis and Haemostasis, Paris 2001.
35. Hoekema L, Castoldi E, Tans G, Manzato F, Bernardi F, Rosing J. Characterization of blood coagulation factor V (a) encoded by the R2-gene. Abstract n° 2162, XVIIth Congress of the International Society on Thrombosis and Haemostasis, Washington 1999.
36. Hoekema L, Castoldi E, Tans G, Girelli D, Gemmati D, Bernardi F, Rosing J. Functional properties of factor V and factor Va encoded by the R2-gene. Thromb Haemost 2001; 85: 75-81.
37. Kostka H, Schwarz T, Schellong S, et al.. Coagulation factor G allele and HR2 haplotype: Factor V activity, activated protein C resistance and risk of venous thrombosis. Blood Coagul Fibrinolysis 2003; 14: 49-56.
38. Soria JM, Almasy L, Souto JC, et al.. A new locus on chromosome 18 that influences normal variations in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility. Blood 2003; 101: 163-7.