A non-coding ABO regulatory variant associatedwith VWF levels, thrombosis risk, and COVID-19 severity is topologically linked to ADAMTS13 in endothelial cells.

ABSTRACT: Venous thromboembolism (VTE) is a major cause of mortality, influenced by genetic and environmental factors. von Willebrand factor (VWF) mediates hemostasis by promoting platelet adhesion, and its plasma levels are associated with thrombotic risk. Although many non-coding variants in ABO are associated with VWF levels, VTE risk, and COVID-19 severity, the mechanisms underlying these associations remain unclear. In this study, we identified the ABO locus as the genomic region with the highest concentration of variants associated with VWF levels. Chromatin conformation analyses in endothelial cells revealed non-coding ABO variants (rs657152, rs9411377, rs660340, and rs505922) associated with VWF levels, VTE risk, and COVID-19 severity, located in spatial proximity to ADAMTS13. ADAMTS13 is a

SUBMITTER: Esposito DV 

PROVIDER: S-EPMC12765440 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature