Erratum: Genome-wide association studies identify genetic loci for low von Willebrand factor levels

Loon, Janine van; Dehghan, Abbas; Tang, Weihong; Trompet, Stella; McArdle, Wendy L.; Asselbergs, Folkert W.; Chen, Ming-Huei; Lopez, Lorna M.; Huffman, Jennifer E.; Leebeek, Frank W.G.; Basu, Saonli; Stott, David J.; Rumley, Ann; Gansevoort, Ron T.; Davies, Gail; Wilson, James J F; Witteman, Jacqueline C. M.; Cao, Xiting; Craen, Anton J. M. de; Bakker, Stephan J. L.; Psaty, Bruce M.; Starr, John M.; Hofman, Albert; Jukema, J. Wouter; Deary, Ian J.; Hayward, Caroline; Harst, Pim van der; Lowe, G. D. O.; Folsom, Aaron R.; Strachan, David P.; Smith, Nicholas L.; Maat, Moniek P.M. de; O’Donnell, Christopher J

doi:10.1038/ejhg.2016.21

Cited by 5 publications

(2 citation statements)

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“…As it is difficult to accrue patients with VWD into a large genetic study, an alternative approach to this question is to compare individuals with low VWF levels with those with high levels and perform a case control GWAS. When examining plasma VWF levels in 31,149 European ancestry participants and performing a GWAS between the lowest fifth percentile of VWF levels and the top 5% of the cohort, investigators found significant signals at ABO , VWF , STXPB5 , STAB2 , and UFM1 33 . These results do not confirm the role of these variants in symptomatic bleeding due to low VWF levels as previous studies have suggested 34 , but they do suggest that an adequately powered study of VWD would confirm the genome-wide significance and role of these common variants in VWD.…”

Section: Role Of Von Willebrand Factor-associated Variants In Diseasementioning

confidence: 99%

Regulation of plasma von Willebrand factor

Desch

2018

F1000Res

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Von Willebrand factor (VWF) is a multimeric plasma glycoprotein that plays a central role in the initiation of blood coagulation. Through interactions between its specific functional domains, the vascular wall, coagulation factor VIII, and platelet receptors, VWF maintains hemostasis by binding to platelets and delivering factor VIII to the sites of vascular injury. In the healthy human population, plasma VWF levels vary widely. The important role of VWF is illustrated by individuals at the extremes of the normal distribution of plasma VWF concentrations where individuals with low VWF levels are more likely to present with mucocutaneous bleeding. Conversely, people with high VWF levels are at higher risk for venous thromboembolic disease, stroke, and coronary artery disease. This report will summarize recent advances in our understanding of environmental influences and the genetic control of VWF plasma variation in healthy and symptomatic populations and will also highlight the unanswered questions that are currently driving this field of study.

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Section: Role Of Von Willebrand Factor-associated Variants In Diseasementioning

confidence: 99%

Regulation of plasma von Willebrand factor

Desch

2018

F1000Res

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“…In severe complicated PE cases, an increased level of active vWF is associated with acute endothelial cell activation and endothelial dysfunction [14]. Increased level of vWF antigen is associated with genetic variation of vWF gene [5], [15]. Based on the description above, the researchers aimed to analyze the genetic variation of the vWF gene on PE in Medan, Indonesia.…”

Section: Introductionmentioning

confidence: 99%

von Willebrand Factor Gene Polymorphism in Preeclampsia Pregnant at Medan, Indonesia

Siregar¹,

Siregar²,

Siregar³

et al. 2021

Open Access Maced J Med Sci

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BACKGROUND: von Willebrand Factor (vWF) is a large glycoprotein mediating hemostasis and thrombosis. The roles of vWF are platelets adhesion to sites of vascular damage and stabilization of coagulation factor VIII. AIM: This study aimed to analyze the polymorphism of the vWF gene on preeclampsia (PE) in pregnancy in Medan, Indonesia. MATERIALS AND METHODS: DNA was amplified using the polymerase chain reaction and was electrophoresed in agarose 2%. Electrophoresis results were detected using Gel Doc 1000 (Biorad, USA). The sequencing method was used to identify polymorphism from vWF gene. RESULTS: From 50 samples of PE patients, the g.93308C>T vWF gene polymorphism was found with the percentage of TT, CT, and CC genotypes as 50%, 42%, and 8%, respectively. CONCLUSION: The c.93308C>T vWF gene polymorphism was found in the genotype percentage of homozygous TT, and heterozygote CT was greater than wild-type CC.

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The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3

Yadegari¹,

Oldenburg²

2020

Hamostaseologie

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Von Willebrand disease (VWD), the most prevalent congenital bleeding disorder, arises from deficiencies in quantity or quality of von Willebrand factor (VWF). The quantitative deficiencies of VWF are considered to be either VWD type 1 (mild/moderate reduction of VWF) or type 3 (virtual absence of VWF). Following cloning of the VWF gene (VWF) in the 1980s, significant progress has been made in our understanding of the pathogenesis of VWD. The genetic basis of type 3 VWD is well defined. VWF causative variations comprising predominantly null alleles have been identified in more than 85% of cases. In contrast, the molecular mechanisms in type 1 disease are only partially characterized. The VWF sequence variations, including mostly missense alterations, are found in only approximately 65% of type 1 VWD patients. It appears that genetic elements outside of VWF may contribute to the pathophysiology of type 1 VWD. This review discusses in detail the current understandings of the genetic basis and molecular mechanisms causing quantitative deficiencies of VWF.

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Erratum: Genome-wide association studies identify genetic loci for low von Willebrand factor levels

Cited by 5 publications

References 0 publications

Regulation of plasma von Willebrand factor

Regulation of plasma von Willebrand factor

von Willebrand Factor Gene Polymorphism in Preeclampsia Pregnant at Medan, Indonesia

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3

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