Influence of the 4600A/G and 4678G/C polymorphisms in the endothelial protein C receptor (EPCR) gene on the risk of venous thromboembolism in carriers of factors V Leiden

Thrombosis and Haemostasis

Volumn 94, Issue 2, 2005, Pages 389-394

  Medina, Pilar ^a   Navarro, Silvia ^a   Estellés, Amparo ^a   Vayá, Amparo ^a   Bertina, Rogier M ^b   España, Francisco ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Endothelial protein C receptor; Factor V Leiden; Interaction; Polymorphisms; Survival time; Venous thromboembolism

Indexed keywords

ACTIVATED PROTEIN C; ALANINE; BLOOD CLOTTING FACTOR 5 LEIDEN; CELL RECEPTOR; CYSTEINE; ENDOTHELIAL PROTEIN C RECEPTOR; GLYCINE; PROTEIN C; UNCLASSIFIED DRUG;

ADULT; AGE; ALLELE; ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE ANALYSIS; PRIORITY JOURNAL; PROBABILITY; RELATIVE; RISK ASSESSMENT; RISK REDUCTION; SYMPTOM; VENOUS THROMBOEMBOLISM;

ALLELES; ANTIGENS; ANTIGENS, CD; BLOOD COAGULATION FACTORS; DISEASE-FREE SURVIVAL; FACTOR V; GENE FREQUENCY; GENOTYPE; GLYCOPROTEINS; HAPLOTYPES; HETEROZYGOTE; HUMANS; MODELS, STATISTICAL; MULTIVARIATE ANALYSIS; MUTATION; ODDS RATIO; POLYMORPHISM, GENETIC; PROBABILITY; RECEPTORS, CELL SURFACE; RISK; THROMBOEMBOLISM; THROMBOSIS; TIME FACTORS; VARIATION (GENETICS); VENOUS THROMBOSIS;

EID: 23744460912     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-02-0089     Document Type: Article

References (31)

1. Esmon CT. The protein C anticoagulant pathway. Arterioscler Thromb 1992; 12: 135-45.
2. Stearns-Kurosawa DJ, Kurosawa S, Mollica JS et al. The endothelial cell protein C receptor augments protein C activation by the thrombin-thrombomodulin complex. Proc Natl Acad Sci USA 1996; 93: 10212-6.
3. Dahlbäck B. Inherited resistance to activated protein C, a major basis of venous thrombosis, is caused by deficient anticoagulant cofactor function of factor V. Haematologica 1995; 80 Suppl 2: 102-13.
4. Bertina R, Koeleman B, Koster T et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
5. De Stefano V, Rossi E, Paciaroni K et al. Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica 2002; 7: 1095-108.
6. Lane DA, Mannucci PM, Bauer KA et al. Inherited thrombophilia: Part 1. Thromb Haemost 1996; 76: 651-62.
7. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-21.
8. Seligshon U, Zivelin A. Thrombophilia as a multigenic disorder. Thromb Haemost 1997; 78: 297-301.
9. Vandenbroucke JP, Koster T, Briët E et al. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994; 344: 1453-7.
10. Makris M, Preston FE, Beauchamp NJ et al. Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thromb Haemost 1997; 78: 1426-9.
11. Koeleman BP, Reitsma PH, Allaart CF et al. Activated protein C resistance as an additional risk factor of thrombosis in protein C-deficient families. Blood 1994; 84: 1031-5.
12. Zöller B, Berntsdotter A, García de Frutos P et al Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-23.
13. España F, Medina P, Mira Y et al. A new polymorphism in the 3′ UTR of the endothelial protein C receptor is associated with increased levels of circulating activated protein C and decreased risk of venous thrombosis. J Thromb Haemost (Suppl) July 2001 Abstract OC885.
14. Saposnik B, Reny JL, Gausem P et al. A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis. Blood 2004; 103: 1311-8.
15. Medina P, Navarro S, Estellés A et al. Contribution of polymorphisms in the endothelial protein C receptor gene to soluble endothelial protein C receptor and circulating activated protein C levels and thrombotic risk. Thromb Haemost 2004; 91: 905-11.
16. Uitte de Willige S, van Marion V, Rosendaal FR et al. Haplotypes of the EPCR gene, plasma sEPCR levels and the risk of deep venous thrombosis. J Thromb Haemost 2004; 2; 1305-10.
17. Gandrille S, Alhenc-Gelas M, Aiach M. A rapid screening method for the factor V Arg 506 Gln mutation. Blood Coagul Fibrinolysis 1995; 6: 245-7.
18. Poort SR, Rosendaal FR, Reitsma PH et al. A common genetic variant in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and increase in venous thrombosis. Blood 1996; 88: 3698-703.
19. Simmonds RE, Lane DA. Structural and functional implications of the intron/exon organization of the human endothelial cell protein C/activated protein C receptor (EPCR) gene: comparison with the structure of CD1/major histocompatibility complex α1 and α2 domains. Blood 1999; 94: 632-41.
20. Lensen RPM, Bertina RM, de Ronde H et al. Venous thrombotic risk in family members of unselected individuals with factor V Leiden. Thromb Haemost 2000; 83: 817-21.
21. Middeldorp S, Henkens CMA, Koopman MMW et al. The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis. Ann Intern Med 1998; 128: 15-20.
22. Simioni P, Sanson BJ, Prandoni P et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999; 81: 198-202.
23. España F, Vayá A, Mira Y et al. Low level of circulating activated protein C is a risk factor for venous thrombosis. Thromb Haemost 2001; 86: 1368-73.
24. Petäjä J, Hakala L, Rasi V et al. Circulating activated protein C in subjects with heterozygous Gln506-factor V. Haemostasis 1998; 28: 31-6.
25. Xu J, Esmon NL, Esmon CT. Reconstitution of the human endothelial cell protein C receptor with thrombomodulin in phosphatidylcholine vesicles enhances protein C activation. J Biol Chem 1999; 274: 6704-10.
26. Tazawa R, Yamamoto K, Suzuki K et al. Presence of functional cyclic AMP responsive element in the 3′-untranslated region of the human thrombomodulin gene. Biochem Biophys Res Commun 1994; 200: 1391-7.
27. Tebo JM, Datta S, Kisbore R et al. Interleukin-1 mediated stabilization of mouse KC mRNA depends on sequences in both 5′- and 3′-untranslated regions. J Biol Chem 2000; 275: 12987-93.
28. Zoller B, García de Frutos P, Hillarp A et al. Thrombophilia as a multigenic disease. Haematologica 1999; 84: 59-70.
29. Aznar J, Vayá A, Estellés A et al. Risk of venous thrombosis in carriers of the prothrombin G20210A variant and factor V Leiden and their interaction with oral contraceptives. Haematologica 2000; 85: 1271-6.
30. Tirado I, Mateo J, Soria JM et al. Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies. Haematologica 2001; 86: 1200-8.
31. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353: 1167-73.