The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction

Schneppenheim, Reinhard; Hellermann, Natalie; A. Brehm, Maria; Klemm, Ulrike; Obser, Tobias; Huck, Volker; W. Schneider, Stefan; V. Denis, Cécile; Tischer, Alexander; Auton, Matthew; März, Winfried; Xu, Emma-Ruoqi; Wilmanns, Matthias; B. Zotz, Rainer

doi:10.1182/blood-2018-04-843425

Public

The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction

Published in Blood • Oct 26, 2018

Authors:

Reinhard Schneppenheim

Natalie Hellermann

Maria A. Brehm

Abstract

The frequent von Willebrand factor (VWF) variant p.Phe2561Tyr is located within the C4 domain, which also harbors the platelet GPIIb/IIIa-binding RGD sequence. To investigate its potential effect on hemostasis, we genotyped 865 patients with coronary artery disease (CAD), 915 with myocardial infarct...

Subject

Von Willebrand factor

Odds ratio

Internal medicine

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