A genetic basis for the interrelation of coagulation factors

Journal of Thrombosis and Haemostasis

Volumn 5, Issue 9, 2007, Pages 1930-1935

  Vossen, C Y ^a,b   Callas, P W ^c   Hasstedt, S J ^d   Long, G L ^b   Rosendaal, F R ^a   Bovill, Edwin G ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF VERMONT   (United States)

^c UNIVERSITY OF VERMONT COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Coagulation; Heritability; Principal components analysis

Indexed keywords

BLOOD CLOTTING FACTOR; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; FIBRINOGEN; PROTEIN C; PROTEIN S; PROTHROMBIN; TISSUE FACTOR PATHWAY INHIBITOR; VON WILLEBRAND FACTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD LEVEL; CANADA; CHILD; CONTROLLED STUDY; FEMALE; FRANCE; GENE CLUSTER; GENE MUTATION; GENETIC CORRELATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HERITABILITY; HUMAN; MALE; PHENOTYPE; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ADOLESCENT; ADULT; AGED; BLOOD COAGULATION FACTORS; CHILD, PRESCHOOL; HUMANS; INFANT; MIDDLE AGED; MULTIGENE FAMILY; MUTATION; PROTEIN C; PROTHROMBIN; RADIOIMMUNOASSAY;

EID: 34548090972     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2007.02678.x     Document Type: Article

References (31)

1. Mann KG, Butenas S, Brummel K. The dynamics of thrombin formation. Arterioscler Thromb Vasc Biol 2003; 23: 17-25.
2. Souto JC, Almasy L, Borrell M, Garí M, Martínez E, Mateo J, Stone WH, Blangero J, Fontcuberta J. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101: 1546-51.
3. de Lange M, Snieder H, Ariëns RA, Spector TD, Grant PJ. The genetics of haemostasis: A twin study. Lancet 2001;357: 101-5.
4. Ariëns RA, de Lange M, Snieder H, Boothby M, Spector TD, Grant PJ. Activation markers of coagulation and fibrinolysis in twins: heritability of the prethrombotic state. Lancet 2002; 359: 667-71.
5. Vossen CY, Hasstedt SJ, Rosendaal FR, Callas PW, Bauer KA, Broze GJ, Hoogendoorn H, Long GL, Scott BT, Bovill EG. Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C deficient family. J Thromb Haemost 2004; 2: 1-6.
6. Souto JC, Almasy L, Blangero J, Stone W, Borrell M, Urrutia T, Mateo J, Fontcuberta J. Genetic regulation of plasma levels of vitamin K-dependent proteins involved in hematostatis: Results from the GAIT Project. Genetic Analysis of Idiopathic Thrombophilia. Thromb Haemost 2001; 85: 88-92.
7. van Hylckama Vlieg A, Callas PW, Cushman M., Bertina RM, Rosendaal FR. Interrelation of coagulation factors and D-dimer levels in healthy individuals. J Thromb Haemost 2003; 1: 516-22.
8. Bovill EG, Bauer KA, Dickerman JD, Callas P, West B. The clinical spectrum of heterozygous protein C deficiency in a large New England kindred. Blood 1989; 73: 712-7.
9. Folsom AR, Cushman M, Tsai MY, Aleksic N, Heckbert SR, Boland LL, Tsai AW, Yanez ND, Rosamond WD. A prospective study of venous thromboembolism in relation to factor V Leiden and related factors. Blood 2002; 99: 2720-5.
10. Cushman M, Legault C, Barrett-Connor E, Stefanick ML, Kessler C, Judd HL, Sakkinen PA, Tracy RP. Effect of postmenopausal hormones on inflammation-sensitive proteins: The Postmenopausal Estrogen/Progestin Interventions (PEPI) Study. Circulation 1999; 100: 717-22.
11. Church WR, Bhushan FH, Mann KG, Bovill EG. Discrimination of normal and abnormal prothrombin and protein C in plasma using a calcium ion-inhibited monoclonal antibody to a common epitope on several vitamin K-dependent proteins. Blood 1989; 74: 2418-25.
12. Bauer KA, Ashenhurst JB, Chediak J, Rosenberg RD. Antithrombin 'Chicago': A functionally abnormal molecule with increased heparin affinity causing familial thrombophilia. Blood 1983; 62: 1242-50.
13. Bauer KA, Broekmans AW, Bertina RM, Conard J, Horellou MH, Samama MM, Rosenberg RD. Hemostatic enzyme generation in the blood of patients with hereditary protein C deficiency. Blood 1988; 71: 1418-26.
14. Bovill EG, Landesman MM, Busch SA, Fregeau GR, Mann KG, Tracy RP. Studies on the measurement of protein S in plasma. Clin Chem 1991; 37: 1708-14.
15. Clauss A. Gerrinnungs-physiologische Schnell-methode zur Bestimmung des Fibrinogens. Acta Haematol 1957; 17: 237-46.
16. Geffken DF, Keating FG, Kennedy MH, Cornell ES, Bovill EG, Tracy RP. The measurement of fibrinogen in population-based research. Studies on instrumentation and methodology. Arch Pathol Lab Med 1994; 118: 1106-9.
17. Sala N, Owen WG, Collen D. A functional assay of protein C in human plasma. Blood 1984; 63: 671-5.
18. Kline P. An Easy Guide to Factor Analysis. New York: Routledge, 1994.
19. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 1998; 62: 1198-211.
20. Hasstedt SJ. jPAP: Document-driven software for genetic analysis. Genet Epidemiol 2005; 29: 255.
21. Sakkinen PA, Wahl P, Cushman M, Lewis MR, Tracy RP. Clustering of procoagulation, inflammation, and fibrinolysis variables with metabolic factors in insulin resistance syndrome. Am J Epidemiol 2000; 152: 897-907.
22. Brenner B, Sánchez-Vega B, Wu SM, Lanir N, Stafford DW, Solera J. A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 1998; 92: 4554-9.
23. Spronk HM, Farah RA, Buchanan GR, Vermeer C, Soute BA. Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 2000; 96: 3650-2.
24. Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hörtnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EGD, Müller CR, Strom TM, Oldenburg J. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. Nature 2004; 427: 537-41.
25. Wajih N, Sane DC, Hutson SM, Wallin R. The inhibitory effect of calumenin on the vitamin K-dependent gamma-carboxylation system. Characterization of the system in normal and warfarin-resistant rats. J Biol Chem 2004; 279: 25276-83.
26. Ceelie H, Spaargaren-Van Riel CC, de Jong M, Bertina RM, Vos HL. Functional characterization of transcription factor binding sites for HNF1-alpha, HNF3-beta (FOXA2), HNF4-alpha, Sp1 and Sp3 in the human prothrombin gene enhancer. J Thromb Haemost 2003; 1: 1688-98.
27. Erdmann D, Heim J. Orphan nuclear receptor HNF-4 binds to the human coagulation factor VII promoter. J Biol Chem 1995; 270: 22988-96.
28. Reijnen MJ, Peerlinck K, Maasdam D, Bertina RM, Reitsma PH. Hemophilia B Leyden: Substitution of thymine for guanine at position-21 results in a disruption of a hepatocyte nuclear factor 4 binding site in the factor IX promoter. Blood 1993; 82: 151-8.
29. Hung HL, High KA. Liver-enriched transcription factor HNF-4 and ubiquitous factor NF-Y are critical for expression of blood coagulation factor X. J Biol Chem 1996; 271: 2323-31.
30. Kaufman RJ. Post-translational modifications required for coagulation factor secretion and function. Thromb Haemost 1998; 79: 1068-79.
31. Eikenboom J, van Marion V, Putter H, Goodeve A, Rodeghiero F, Castaman G, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, et al. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost 2006; 4: 774-82.