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

Schneppenheim R, Hellermann N, Brehm MA, Klemm U, Obser T, Huck V, Schneider SW, Denis CV et al.

The VWF variant p.Phe2561Tyr was genotyped in 865 CAD patients, 915 myocardial infarction patients, and 417 controls from LURIC. Tyr2561 carriers aged 55 years or younger showed an elevated risk of repeated myocardial infarction (OR 2.53; 95% CI 1.07-5.98; OR 5.93 in females). Functional studies demonstrated increased platelet aggregation and reduced critical shear rate, establishing Tyr2561 as a gain-of-function allele in arterial thromboembolism.

Blood, 26. Oktober 2018 | PMID 30366922