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

British Journal of Haematology

Volumn 128, Issue 6, 2005, Pages 830-836

  Bowen, Derrick J ^a   Collins, Peter W ^a   Lester, Will ^b   Cumming, Anthony M ^c   Keeney, Steven ^c   Grundy, Pamela ^c   Enayat, Saad M ^b   Bolton Maggs, Paula H B ^c   Keeling, David M ^d   Khair, Kate ^e   Tait, R Campbel ^f   Wilde, Jonathon T ^g   Pasi, K John ^h   Hill, Frank G H ^b  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^d CHURCHILL HOSPITAL   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^f GLASGOW ROYAL INFIRMARY   (United Kingdom)

^g QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^h ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

ADAMTS13; Proteolysis polymorphism; Von willebrand disease; Von willebrand factor

Indexed keywords

CYSTEINE; DISINTEGRIN; METALLOPROTEINASE; THROMBOSPONDIN; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

ARTICLE; BLEEDING; BLOOD GROUP O; CLINICAL ARTICLE; CONTROLLED STUDY; GENE SEGREGATION; GENETIC EPIDEMIOLOGY; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN MOTIF; RISK ASSESSMENT; VON WILLEBRAND DISEASE;

ABO BLOOD-GROUP SYSTEM; ADAM PROTEINS; COHORT STUDIES; CYSTEINE; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; METALLOENDOPEPTIDASES; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; VON WILLEBRAND DISEASE;

EID: 20144387640     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05375.x     Document Type: Article

References (21)

1. Bertina, R.M. (2001) Genetic approach to thrombophilia. Thrombosis and Haemostasis, 86, 92-103.
2. Bolton-Maggs, P. & Wilkinson, L. (1984) Mild bleeding disorders: review of 120 patients. Clinical and Laboratory Haematology, 6, 247-256.
3. Bowen, D.J. (2003) An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of Thrombosis and Haemostasis, 1, 33-40.
4. Bowen, D.J. (2004) Increased susceptibility of von Willebrand factor to proteolysis by ADAMTS13: should the multimer profile be normal or type 2A? Blood, 103, 3246.
5. Bowen, D.J. & Collins, P.W. (2004) An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood, 103, 941-947.
6. Casana, P., Martinez, F., Haya, S., Espinos, C. & Aznar, J.A. (2001) Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. British Journal of Haematology, 115, 692-700.
7. Castaman, G., Eikenboom, J.C.J., Bertina, R.M. & Rodeghiero, F. (1999) Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thrombosis and Haemostasis, 82, 1065-1070.
8. Enayat, M.S. & Hill, F.G.H. (1983) Analysis of the complexity of the multimeric structure of factor VIII-related antigen/von Willebrand protein using a modified electrophoretic technique. Journal of Clinical Pathology, 36, 915-919.
9. Fischer, B.E., Thomas, K.B. & Dorner, F. (1998) von Willebrand factor: measuring its antigen or function? Correlation between the level of antigen, activity, and multimer size using various detection systems. Thrombosis Research, 91, 39-43.
10. Furlan, M., Robles, R. & Lammle, B. (1996) Partial purification and characterisation of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood, 87, 4223-4234.
11. Gill, J.C., Endres-Brooks, J., Bauer, P.J., Marks, W.J. & Montgomery, R.R. (1987) The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood, 69, 1691-1695.
12. Kekomaki, R., Rasi, V., Ebeling, F., Vahtera, E., Javela, K., Koski, T., Myllyla, G. & Ikkala, E. (1999) von Willebrand disease in Finland. Haemophilia, 5(Suppl. 2), 72-74.
13. Miller, C.H., Lenzi, R. & Breen, C. (1987) Prevalence of von Willebrand's disease among US adults. Blood, 69, 454-459.
14. O'Brien, L.A., James, P.D., Othman, M., Berber, E., Cameron, C., Notley, C.R., Hegadorn, C.A., Sutherland, J.J., Hough, C., Rivard, G.E., O'Shaunessey, D. & Lillicrap, D. (2003) A founder von Willebrand factor haplotype associated with type 1 von Willebrand disease. Blood, 102, 549-557.
15. Rodeghiero, F., Castaman, G. & Dini, E. (1987) Epidemiological investigation of the prevalence of von Willebrand's disease. Blood, 69, 454-459.
16. Ruggeri, Z.M. (2003) von Willebrand factor, platelets and endothelial cell interactions. Journal of Thrombosis and Haemostasis, 1, 1335-1342.
17. Sadler, J.E. (1994) A revised classification of von Willebrand disease. Thrombosis and Haemostasis, 71, 520-525.
18. Sadler, J.E. (2003) von Willebrand disease type 1: a diagnosis in search of a disease. Blood, 101, 2089-2093.
19. Scheibel, E. (1999) von Willebrand disease in Denmark: demography and treatment. Haemophilia, 5, 71.
20. Tsai, H.M. (1996) Cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood, 87, 4235-4244.
21. Werner, E.J., Borxson, E.H., Tucker, E.L., Giroux, D.S., Shults, J. & Abshire, T.C. (1993) Prevalence of von Willebrand disease in children: a multiethnic study. Journal of Pediatrics, 123, 893-898.