Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes

• Published in: Journal of thrombosis and haemostasis Vol. 11; no. 2; pp. 261 - 269
• Main Authors: Wang, Q. Y., Song, J., Gibbs, R. A., Boerwinkle, E., Dong, J. F., Yu, F. L.
• Format: Journal Article
• Language: English
• Published: England Elsevier Limited 01.02.2013
• Subjects: 1000 Genomes Project; Asian People - genetics; Black or African American - genetics; Black People - genetics; Databases, Genetic; DNA Mutational Analysis; ethnic diversity; Ethnicity - genetics; Gene Frequency; Genetic Predisposition to Disease; Genomes; Hemostasis - genetics; Human Genome Project; Humans; Incidence; Minority & ethnic groups; Multiculturalism & pluralism; Mutation; Phenotype; Polymorphism, Single Nucleotide; von Willebrand Diseases - blood; von Willebrand Diseases - ethnology; von Willebrand Diseases - genetics; von Willebrand Factor - genetics; von Willebrand Factor - metabolism; VWD; VWF variants; White People - genetics
• ISSN: 1538-7933; 1538-7836; 1538-7836
• DOI: 10.1111/jth.12093

Summary Background The von Willebrand factor (VWF) gene is highly polymorphic, with variants correlated with VWF antigen levels, adhesion activity, clearance and factor VIII binding. VWF mutations are detected in patients with von Willebrand disease (VWD), whereas polymorphic variants could be assoc...