Effect of the VWF promoter (GT) n repeat and single-nucleotide polymorphism c.-2527G>A on circulating von Willebrand factor levels under normal conditions

Journal of Thrombosis and Haemostasis

Volumn 9, Issue 3, 2011, Pages 603-605

  Hickson, N ^a   Hampshire, D ^a   Castaman, G ^b   Eikenboom, J ^c   Rodeghiero, F ^b   Peake, I ^a   Goodeve, A ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b SAN BORTOLO HOSPITAL   (Italy)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

VON WILLEBRAND FACTOR;

BLOOD GROUP ABO SYSTEM; HUMAN; LETTER; PRIORITY JOURNAL; PROMOTER REGION; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ALLELES; DINUCLEOTIDE REPEATS; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; REFERENCE VALUES; VON WILLEBRAND FACTOR;

EID: 79952061143     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.04161.x     Document Type: Letter

References (9)

1. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ Jr, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987; 69: 1691-5.
2. Keightley 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: 4277-83.
3. 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: 349-53.
4. Hough C, Cameron CL, Notley CR, Brown C, O'Brien L, Keightley AM, Berber E, Lillicrap D. Influence of a GT repeat element on shear stress responsiveness of the VWF gene promoter. J Thromb Haemost 2008; 6: 1183-90.
5. Casonato A, Daidone V, Sartorello F, Albiger N, Romualdi C, Mantero F, Pagnan A, Scaroni C. Polymorphisms in von Willebrand factor gene promoter influence the glucocorticoid-induced increase in von Willebrand factor: the lesson learned from Cushing syndrome. Br J Haematol 2008; 140: 230-5.
6. Daidone V, Pontara E, Romualdi C, Cattini MG, Scaroni C, Albiger N, Pagnan A, Casonato A. Microsatellite (GT)(n) is part of the von Willebrand factor (VWF) promoter region that influences the glucocorticoid-induced increase in VWF in Cushing's syndrome. Thromb Res 2010; 125: e275-80.
7. Lethagen S, Hillarp A, Ekholm C, Mattson E, Hallden C, Friberg B. Distribution of von Willebrand factor levels in young women with and without bleeding symptoms: influence of ABO blood group and promoter haplotypes. Thromb Haemost 2008; 99: 1013-18.
8. Daidone V, Cattini MG, Pontara E, Sartorello F, Gallinaro L, Marotti A, Scaroni C, Pagnan A, Casonato A. Microsatellite (GT)(n) repeats and SNPs in the von Willebrand factor gene promoter do not influence circulating von Willebrand factor levels under normal conditions. Thromb Haemost 2009; 101: 298-304.
9. Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, 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: 112-21.