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Int J Mol Epidemiol Genet 2012;3(1):77-83

Original Article
Classification of exon 18 linked variants of VWF gene in von Willebrand disease

Shirin Shahbazi, Sara Alavi, Reza Mahdian

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Al-e-Ahmad and Chamran Cross
Tehran, Iran; Biotechnology Research Center, Molecular Medicine Department, Pasteur Institute of Iran, Tehran, Iran;
Biotechnology Research Center, Molecular Medicine Department, Pasteur Institute of Iran, Tehran, Iran.

Received February 12, 2012; Accepted February 26, 2012; Epub February 29, 2012; Published March 15, 2012

Abstract: 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.(IJMEG1112002).

Keywords: von Willebrand disease, VWF gene, genetic polymorphisms, allele frequency

Address all correspondence to:
Dr. Shirin SHAHBAZI
Medical genetics Department
Faculty of Medical Sciences
Tarbiat Modares University
Al-e-Ahmad and Chamran Cross
POB: 14115-111, Tehran, Iran.
Tel: 0098.21.82884556; Fax: 0098.21.82884555
E-mail: sh.shahbazi@modares.ac.ir