Article
Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding.
Journal of thrombosis and haemostasis : JTH - 1 Aug 2025
Friedman Rachel K, Heath Adam S, Huffman Jennifer E, Baker James T, Hasbani Natalie R, Gagliano Taliun Sarah A, Chen Ming-Huei, Howard Tom E, Lewis Joshua P, Pankratz Nathan, Patil Snehal, Reiner Alex P, Thibord Florian, Yanek Lisa R, Yao Jie, Chen Hung-Hsin, Curran Joanne E, Faraday Nauder, Guo Xiuqing, Wheeler Marsha M, Ryan Kathleen A, Zhou Xiang, Cho Kelly, Almasy Laura, Auer Paul L, Becker Lewis C, Wilson Peter W F, Boerwinkle Eric, O'Connell Jeffrey R, Rich Stephen S, Samuels David C, Blangero John, Fornage Myriam, Kooperberg Charles, Mathias Rasika A, Mitchell Braxton D, Rotter Jerome I, Johnson Andrew D, Smith Nicholas L, Coban-Akdemir Zeynep H, Below Jennifer E, Morrison Alanna C, Johnsen Jill M, de Vries Paul S
Abstract excerpt
BACKGROUND: von Willebrand disease (VWD) is a common inherited bleeding disorder caused by low levels or activity of circulating von Willebrand factor (VWF). Genetic susceptibility to VWF antigen (VWF:Ag) below normal (≤ 50 IU/dL) in the general population is underexplored. OBJECTIVES: To identify genetic variants influencing VWF:Ag levels ≤ 50 IU/dL. METHODS: We performed a genome-wide association study in 926...
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