Phenotypic sensitivity to activated protein C in healthy families: Importance of genetic components and environmental factors

British Journal of Haematology

Volumn 126, Issue 3, 2004, Pages 392-397

  Taralunga, Claudia ^a,b   Gueguen, René ^c   Visvikis, Sophie ^c,d   Regnault, Véronique ^a   Sass, Catherine ^c,d   Siest, Gérard ^c,d   Lecompte, Thomas ^a,b   Wahl, Denis ^a,b  

^a UNIVERSITÉ DE LORRAINE   (France)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

^c Centre de Medecine Preventive   (France)

^d INSERM   (France)

Author keywords

Factor V; Genetic epidemiology; Mutation; Protein C; Thrombophilia

Indexed keywords

ACTIVATED PROTEIN C; ANTITHROMBIN; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; PROTHROMBIN; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ANALYSIS OF VARIANCE; ARTICLE; CHILD; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; FEMALE; GENETIC POLYMORPHISM; GENOTYPE; HEREDITY; HUMAN; MALE; MULTIFACTORIAL INHERITANCE; NORMAL HUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; REGRESSION ANALYSIS; SENSITIVITY ANALYSIS; SEX RATIO;

ACTIVATED PROTEIN C RESISTANCE; ADOLESCENT; ADULT; AGE FACTORS; BLOOD COAGULATION FACTORS; BLOOD COAGULATION TESTS; CHILD; FACTOR V; FEMALE; GENDER IDENTITY; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; PROTHROMBIN; REGRESSION ANALYSIS;

EID: 3442878221     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.05055.x     Document Type: Article

References (31)

1. Bernardi, F., Faioni, E.M., Castoldi, E., Lunghi, B., Castaman, G., Sacchi, E. & Mannucci, P.M. (1997) A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood, 90, 1552-1557.
2. Bertina, R.M., Reitsma, P.H., Rosendaal, F.R. & Vandenbroucke, J.P. (1995) Resistance to activated protein C and factor V Leiden as risk factor for venous thrombosis. Thrombosis and Haemostasis, 74, 449-453.
3. Blangero, J., Williams, J.T. & Almasy, L. (2003) Novel family-based approaches to genetic risk in thrombosis. Journal of Thrombosis Haemostasis, 1, 1391-1397.
4. Castaman, G., Tosetto, A., Simioni, M., Ruggeri, M., Madeo, D. & Rodeghiero, F. (2001) Phenotypic APC resistance in carriers of the A20210 prothrombin mutation is associated with an increased risk of venous thrombosis. Thrombosis and Haemostasis, 86, 804-808.
5. Chan, W.P., Lee, C.K., Kwong, Y.L., Lam, C.K. & Liang, R. (1998) A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood, 91, 1135-1139.
6. Cheng, S., Grow, M., Pallaud, C., Klitz, W., Erlich, H.A., Visvikis, S., Chen, J.J., Pullinger, C.R., Malloy, M.J., Siest, G. & Kane, J.P. (1999) A multilocus genotyping assay for candidate markers of cardiovascular disease risk. Genome Research, 10, 936-949.
7. Dahlbäck, B. (1995) New molecular insights into the genetics of thrombophilia. Resistance to activated protein C caused by Arg506 to Gln mutation in factor V as a pathogenic risk factor for venous thrombosis. Thrombosis and Haemostasis, 74, 139-148.
8. Dahlbäck, B., Carlsson, M. & Svensson, P.J. (1993) 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. Proceedings of the National Academy of Sciences of the United States of America, 90, 1004-1008.
9. Guéguen, R., Jouanny, P., Guillemin, F., Kuntz, C., Pourel, J. & Siest, G. (1995) Segregation analysis and variance components analysis of bone mineral density in healthy families. Journal of Bone and Mineral Research, 10, 2017-2022.
10. Hasstedt, S.J. (1989) Pedigree Analysis Package. Department of Human Genetics, University of Utah, Salt Lake City, UT.
11. Hemker, H.C., Giesen, P., Al Dieri, R., Regnault, V., de Smed, E., Wagenvoord, R., Lecompte, T. & Béguin, S. (2003) Calibrated automated thrombin generation measurement in clotting plasma. Pathophysiology of Haemostasis and Thrombosis, 33, 4-15.
12. Hopper, J.L., Macaskill, G.T., Powles, J.W. & Ktenas, D. (1992) Pedigree analysis of blood pressure in subjects from rural Greece and relatives who migrated to Melbourne, Australia. Genetic Epidemiology, 9, 225-238.
13. Lange, K., Westlake, J. & Spence, M.A. (1976) Extension to pedigree analysis III. Variance components by the scoring method. Annals of Human Genetics, 39, 485-491.
14. Lange, K., Boehnlee, M. & Weeks, D. (1988) Programs for Pedigree Analysis. Department of Biomathematics, UCLA, Los Angles, CA.
15. Lowe, G.D., Rumley, A., Woodward, M., Reid, E. & Rumley, J. (1999) Activated protein C resistance and the FV:R506Q mutation in a random population sample - associations with cardiovascular risk factors and coagulation variables. Thrombosis and Haemostasis, 81, 918-924.
16. Mansour-Chewaly, M., Haddy, N., Siest, G. & Visvikis, S. (2002) Family studies: their role in the evaluation of genetic cardiovascular risk factors. Clinical Chemistry and Laboratory Medicine, 40, 1085-1096.
17. Mumford, A.D., McVey, J.H., Morse, C.V., Gomez, K., Steen, M., Norstrom, E.A., Tuddenham, E.G.D., Dahlbäck, B. & Bolton-Maggs, P.H.B. (2003) Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C. British Journal of Haematology, 123, 496-501.
18. Regnault, V., de Maistre, E., Geschier, C., Briquel, M.E., André, E., Stoltz, J.F. & Lecompte, T. (1995) A new fast one-step immunopreparation for activated protein C. Thrombosis and Haemostasis, 73, 1365.
19. Regnault, V., Béguin, S., Wahl, D., de Maistre, E., Hemker, H.C. & Lecompte, T. (2003) Thrombinography shows acquired resistance to activated protein C in patients with lupus anticoagulants. Thrombosis and Haemostasis, 89, 208-212.
20. Rodeghiero, F. & Tosetto, A. (1999) Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism. Annals of Internal Medicine, 130, 643-650.
21. Siest, G. (1998) Objectives, design and recruitment of a familial and longitudinal cohort for studying gene-environment interactions in the field of cardiovascular risk: the Stanislas cohort. Clinical Chemistry Laboratory Medicine, 36, 35-42.
22. Soria, J.M., Almasy, L., Souto, J.C., Tirado, T., Borell, M., Mateo, J., Slifer, S., Stone, W., Blangero, J. & Fontcuberta, J. (2000) Linkage analysis demonstrates that the prothrombin G20210A mutation jointly influences plasma prothrombin levels and risk of thrombosis. Blood, 95, 2780-2785.
23. Soria, J.M., Almasy, L., Souto, J.C., Buil, A., Martinez-Sanchez, E., Mateo, J., Borrell, M., Stone, W.H., Lathrop, M., Fontcuberta, J. & Blangero, J. (2003) A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility. Blood, 101, 163-167.
24. Soubrier, F., Fery, I., Verdy, E., Rene, M.N., Varsat, B., Visvikis, S. & Siest, G. (1995) The frequency of the factor V gene R506Q mutation varies between regions of France. Nouvelle Revue Française d'Hématologie, 37, 175.
25. Souto, J.C., Almasy, L., Borrell, M., Gari, M. & Martinez, E. (2000) Genetic determinants of haemostasia phenotypes in Spanish families. Circulation, 101, 1546-1551.
26. Tosetto, A., Missiaglia, E., Gatto, E. & Rodeghiero, F. (1997) The VITA project: phenotypic resistance to activated protein C and FV Leiden mutation in the general population. Thrombosis and Haemostasis, 78, 859-863.
27. Tosetto, A., Castaman, G., Cappellari, A. & Rodeghiero, F. (2000) The VITA Project: heritability of resistance to activated protein C. Thrombosis and Haemostasis, 84, 811-814.
28. Tripodi, A., Chantarangkul, V., Mannucci, P. & Bonomi, A.B. (2000) Hyperprothrombinemia may result in acquired activated protein C resistance. Blood, 96, 3295-3296.
29. de Visser, M.C.H., Rosendaal, F.R. & Bertina, R.M. (1999) A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis. Blood, 93, 1271-1276.
30. 306 → Thr) associated with resistance to activated protein C. Blood, 91, 1140-1144.
31. Zehnder, J.L., Hiraki, D.D., Jones, C.D., Gross, N. & Grumet, F.C. (1999) Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. Thrombosis and Haemostasis, 82, 1097-1099.