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

被引：0

作者：

Shahbazi, Shirin ^{[1
]}

Alavi, Sara ^{[2
]}

Mahdian, Reza ^{[2
]}

机构：

[1] Tarbiat Modares Univ, Fac Med Sci, Dept Med Genet, Al E Ahmad & Chamran Cross,POB 14115-111, Tehran, Iran

[2] Pasteur Inst Iran, Biotechnol Res Ctr, Mol Med Dept, Tehran, Iran

来源：

INTERNATIONAL JOURNAL OF MOLECULAR EPIDEMIOLOGY AND GENETICS | 2012年 / 3卷 / 01期

关键词：

von Willebrand disease; VWF gene; genetic polymorphisms; allele frequency;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

收藏

页码：77 / 83

页数：7

相关论文

共 50 条

[41] Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population [J].

Mohl, A. ;

Boda, Z. ;

Jager, R. ;

Losonczy, H. ;

Marosi, A. ;

Masszi, T. ;

Nagy, E. ;

Nemes, L. ;

Obser, T. ;

Oyen, F. ;

Radvanyi, G. ;

Schlammadinger, A. ;

Szelessy, Z. S. ;

Varkonyi, A. ;

Vezendy, K. ;

Vilimi, B. ;

Schneppenheim, R. ;

Bodo, I. .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2011, 9 (05) :945-952

[42] The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease [J].

Ay, Cihan ;

Pabinger, Ingrid ;

Kovacevic, Katarina D. ;

Gelbenegger, Georg ;

Schorgenhofer, Christian ;

Quehenberger, Peter ;

Jilma-Stohlawetz, Petra ;

Sunder-Plassman, Raute ;

Gilbert, James C. ;

Zhu, Shuhao ;

Jilma, Bernd ;

Derhaschnig, Ulla .

BLOOD ADVANCES, 2022, 6 (18) :5467-5476

[43] Evaluation of a rapid von Willebrand Factor Activity Latex Immuno Assay for monitoring of patients with von Willebrand disease (VWD) receiving DDAVP® or VWF replacement therapy [J].

Vinayagam, S. ;

Simons, L. R. ;

Chowdary, P. ;

Thurlow, P. ;

Brooks, S. V. ;

Riddell, A. F. .

HAEMOPHILIA, 2014, 20 (04) :e304-e310

[44] A rapid, automated VWF ristocetin cofactor activity assay improves reliability in the diagnosis of Von Willebrand disease [J].

Bowyer, Annette E. ;

Shepherd, Fiona ;

Kitchen, Stephen ;

Makris, Michael .

THROMBOSIS RESEARCH, 2011, 127 (04) :341-344

[45] Haemostaseological Changes of VWF and FVIII during Pregnancy and the Oestrus Cycle in a Porcine Model of Von Willebrand Disease [J].

Moeller, Rabea ;

Kaiser, Katharina ;

Baulain, Ulrich ;

Petersen, Bjoern ;

Detering, Carsten ;

Ekhlasi-Hundrieser, Mahnaz ;

Zimmermann, Richard ;

Muehlfeld, Christian ;

von Depka Prondzinski, Mario ;

Pfarrer, Christiane ;

Lehner, Stefanie .

HEMATO, 2024, 5 (01) :48-65

[46] Highly purified VWF/FVIII concentrates in the treatment and prophylaxis of von Willebrand disease: the PRO.WILL study [J].

Federici, A. B. .

HAEMOPHILIA, 2007, 13 :15-24

[47] Reported prevalence of von Willebrand disease worldwide in relation to income classification [J].

Stonebraker, Jeffrey S. ;

Iorio, Alfonso ;

Lavin, Michelle ;

Rezende, Suely M. ;

Srivastava, Alok ;

Pierce, Glenn F. ;

Coffin, Donna ;

Tootoonchian, Ellia ;

Makris, Michael .

HAEMOPHILIA, 2023, 29 (04) :975-986

[48] EX-VIVO EXPERIMENTAL THROMBOSIS IN VARIANTS OF VON-WILLEBRAND DISEASE [J].

FRESSINAUD, E ;

FEDERICI, AB ;

CASTAMAN, G ;

MANNUCCI, PM ;

MEYER, D .

COMPTES RENDUS DE L ACADEMIE DES SCIENCES SERIE III-SCIENCES DE LA VIE-LIFE SCIENCES, 1993, 316 (10) :1260-1265

[49] Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p. M771I, p. L881R and p. P1413L [J].

Berber, Ergul ;

Ozbil, Mehmet ;

Brown, Christine ;

Baslar, Zafer ;

Caglayan, S. Hande ;

Lillicrap, David .

BLOOD TRANSFUSION, 2017, 15 (06) :548-556

[50] A case of type 2N von Willebrand disease with homozygous R816W mutation of the VWF gene in a Nepalese woman [J].

Lee, Sook Young ;

Nam, Eun Mi ;

Lee, Soon Nam ;

Kim, Hee-Jin ;

Hong, Ki Sook .

KOREAN JOURNAL OF LABORATORY MEDICINE, 2008, 28 (04) :258-261

← 1 2 3 4 5 →