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Investigating von Willebrand Factor Pathophysiology Using a Flow Chamber Model of von Willebrand Factor-platelet String Formation
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Classification of exon 18 linked variants of VWF gene in von Willebrand disease

Shirin Shahbazi1, Sara Alavi, Reza Mahdian

  • 1Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Al-e-Ahmad and Chamran Cross Tehran, Iran.

International Journal of Molecular Epidemiology and Genetics
|April 12, 2012
PubMed

Defects in von Willebrand factor, a crucial protein in haemostasis, lead to the most common inherited coagulopathy in man, von Willebrand disease. To date, over 350 mutations and 170 single nucleotide polymorphisms of VWF gene have been reported. In the present study, the distribution of two linked VWF gene variants, rs1063856 and rs1063857 have been assessed. The proportional frequency of rs1063856 (2365A/G) and rs1063857 (2385T/C) in healthy individuals were 0.70/0.30. Frequency of polymorphisms was in agreement with predicted geographical distribution. von Willebrand disease was more common in subjects with 2365A and 2385T alleles (odds ratio=1.35), although the difference was not statistically significant (p-values>0.05). The perfect correlation between these two single nucleotide polymorphisms supports their joint contribution in von Willebrand factor biology.

Keywords:
VWF geneallele frequencygenetic polymorphismsvon Willebrand disease

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