Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group

Blood

Volumn 109, Issue 7, 2007, Pages 2840-2846

  Davies, James Anthony ^a   Collins, Peter William ^a   Hathaway, Lee Sarah ^b   Bowen, Derrick John ^a  

^a CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RISTOCETIN; VON WILLEBRAND FACTOR;

ARTICLE; BINDING AFFINITY; BLOOD DONOR; BLOOD GROUP ABO SYSTEM; CONTROLLED STUDY; FEMALE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IN VIVO STUDY; MALE; NORMAL HUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN INTERACTION;

EID: 33947583665     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-07-035105     Document Type: Article

References (36)

1. De Lange M, de Geus EJ, Kluft C, et al. Genetic influences on fibrinogen, tissue plasminogen activator-antigen and von Willebrand factor in males and females. Thromb Haemost. 2006;95:414-419.
2. Orstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W. Factor VIII and factor IX in a twin population: evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet. 1985;37:89-101.
3. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood. 1987;69:1691-1695.
4. Souto JC, Almasy L, Soria JM, et al. Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project. Thromb Haemost. 2003;89:468-474.
5. Keightly AM, Lam YM, Brady JN, Cameron CL, Lillicrap D. Variation at the von Willebrand factor (vWF) gene locus is associated with plasma vWF:Ag levels: identification of three novel single nucleotide polymorphisms in the vWF gene promoter. Blood. 1999;93:4277-4283.
6. Harvey PJ, Keightley AM, Lam YM, Cameron C, Lillicrap D. A single nucleotide polymorphism at nucleotide-1793 in the von Willebrand factor (VWF) regulatory region is associated with plasma VWF:Ag levels. Br J Haematol. 2000;109:349-353.
7. Laffan M, Brown SA, Collins PW, et al. The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation. Haemophilia. 2004;10:199-217.
8. Sadler JE, Budde U, Eikenboom JC, et al. The working party on von Willebrand disease classification: update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4:2103-2114.
9. Lowe GD. Circulating inflammatory markers and risks of cardiovascular and non-cardiovascular disease. J Thromb Haemost. 2005;3:1618-1627.
10. Sporn LA, Marder VJ, Wagner DD. Inducible secretion of large, biologically potent von Willebrand factor multimers. Cell. 1986;46:185-190.
11. Sporn LA, Marder VJ, Wagner DD. von Willebrand factor released from Weibel-Palade bodies binds more avidly to extracellular matrix than that secreted constitutively. Blood. 1987;69:1531-1534.
12. Dent J, Berkowitz SD, Ware J, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci U S A. 1990;87:6306-6310.
13. Furlan M, Robles R, Lammle B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood. 1996;87:4223-4234.
14. Tsai HM. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood. 1996;87:4235-4244.
15. Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488-494.
16. Lyons SE, Bruck ME, Bowie EJ, Ginsburg D. Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem. 1992;267:4424-4430.
17. Lyons SE, Cooney KA, Bockenstedt P, Ginsburg D. Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations. Blood. 1994;83:1551-1557.
18. Tsai HM, Sussman II, Ginsburg D, Lankhof H, Sixma JJ, Nagel RL. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: inhibition by doxycycline and by monoclonal antibody VP-1. Blood. 1997;89:1954-1962.
19. O'Brien LA, James PD, Othman M, et al. Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood. 2003;102:549-557.
20. Bowen DJ, Collins PW. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood. 2004;103:941-947.
21. Bowen DJ, Collins PW, Lester W, et al. The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype. Br J Haematol. 2005;128:830-836.
22. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study: molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). Blood. 2007;109:112-121.
23. Bowen DJ, Collins PW. Insights into von Willebrand factor proteolysis: clinical implications. Br J Haematol. 2006;133:457-467.
24. Bowen DJ, Standen GR, Granville S, Bowley S, Wood NA, Bidwell J. Genetic diagnosis of factor V Leiden using heteroduplex technology. Thromb Haemost. 1997;77:119-122.
25. Mancuso DJ, Tuley EA, Westfield LA, et al. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochem J. 1991;8:253-269.
26. Wood N, Bidwell J. Genetic screening and testing by induced heteroduplex formation. Electrophoresis. 1996;17:247-254.
27. Short PE, Williams CE, Picken AM, Hill FG. Factor VIII related antigen: an improved enzyme immunoassay. Med Lab Sci. 1982;39:351-355.
28. Gerritsen HE, Turecek PL, Schwarz HP, Lammle B, Furlan M. Assay of von Willebrand factor (vWF)-cleaving protease based on decreased collagen binding affinity of degraded vWF: a tool for the diagnosis of thrombotic thrombocytopenic purpura (TTP). Thromb Haemost. 1999;82:1386-1389.
29. Raines G, Aumann H, Sykes S, Street A. Multimeric analysis of von Willebrand factor by molecular sieving electrophoresis in sodium dodecyl sulphate agarose gels. Thromb Res. 1990;60:201-212.
30. Bowen DJ. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. J Thromb Haemost. 2003;1:33-40.
31. O'Donnell JS, McKinnon TA, Crawley JT, Lane DA, Laffan MA. Bombay phenotype is associated with reduced plasma-VWF levels and an increased susceptibility to ADAMTS13 proteolysis. Blood. 2005;106:1988-1991.
32. Nitu-Whalley IC, Lee CA, Griffioen A, Jenkins PV, Pasi KJ. Type 1 von Wilebrand disease - a clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history. Br J Haematol. 2000;108:259-264.
33. Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood. 2003;101:2089-2093.
34. Chng WJ, Yip CYC, Baliwag MB, Liu TC. Differential effect of the ABO blood group on von Willebrand factor collagen binding activity and ristocetin cofactor assay. Blood Coag Fibrinol. 2005;16:75-78.
35. Budde U. Phenotypic classification of von Willebrand disease. Haematol Rep. 2005;1:9-15.
36. Lenting PJ, Westein E, Terraube V, et al. An experimental model to study the in vivo survival of von Willebrand factor: basic aspects and application to the R1205H mutation. J Biol Chem. 2004;279:12102-12109.