ABO blood group genotypes, plasma von Willebrand factor levels and loading of von Willebrand factor with A and B antigens

Vania M. Morelli; Marieke C. H. de Visser; Nico H. van Tilburg; Hans L. Vos; Jeroen C. J. Eikenboom; Frits R. Rosendaal; Rogier M. Bertina

doi:10.1160/TH06-09-0549

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2007; 97(04): 534-541
DOI: 10.1160/TH06-09-0549

Blood Coagulation, Fibrinolysis and Cellular Haemostasis

Schattauer GmbH

ABO blood group genotypes, plasma von Willebrand factor levels and loading of von Willebrand factor with A and B antigens

Authors

Vania M. Morelli

¹Hemostasis and Thrombosis Research Center, Department of Hematology
Marieke C. H. de Visser

¹Hemostasis and Thrombosis Research Center, Department of Hematology
Nico H. van Tilburg

¹Hemostasis and Thrombosis Research Center, Department of Hematology
Hans L. Vos

¹Hemostasis and Thrombosis Research Center, Department of Hematology
Jeroen C. J. Eikenboom

¹Hemostasis and Thrombosis Research Center, Department of Hematology
Frits R. Rosendaal

¹Hemostasis and Thrombosis Research Center, Department of Hematology

²Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
Rogier M. Bertina

¹Hemostasis and Thrombosis Research Center, Department of Hematology

Abstract

Summary

ABO blood group is a genetic determinant of von Willebrand factor (VWF) levels. We investigated the effect of ABO genotypes on VWF and factor VIII (FVIII) levels and on the degree to which VWF is loaded with A- and B-antigens, expressed as normalized ratios, nA-ratio and nB-ratio, respectively, in the Leiden Thrombophilia Study, a large case-control study on venous thrombosis. We found that the ABO locus had an allele-specific, dosage dependent effect on VWF and FVIII levels and on the loading of VWF with A-antigen and B-antigen. The highest mean nA- and nB-ratios were found in A ¹ A ¹ and BB genotypes, respectively. Four A¹ O carriers had four 43-bp repeats in the minisatellite region of theABO gene in stead of the expected one repeat. All had a reduced nA-ratio compared to A 1 O carriers with one repeat in their A¹ allele. The amount of A – and B- antigens expressed onVWF (nA-ratio and nB-ratio) explained about 18% (R²) of the variation in VWF levels.

Keywords

ABO genotypes - von Willebrand factor - A and B antiens

Volltext

Referenzen

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