Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

ABSTRACT:

Background

We previously described the association between rare ADAMTS13 single nucleotide variants (SNVs) and deep vein thrombosis (DVT). Moreover, DVT patients with at least one rare ADAMTS13 SNV had a lower ADAMTS13 activity than non-carriers.

Aims

To confirm ADAMTS13 variants association with DVT and reduced plasma ADAMTS13 activity levels in a larger population. To investigate the role of VWF and F8 variants.

Methods

ADAMTS13, VWF and F8 were sequenced using next-generation sequencing in 594 Italian DVT patients and 571 controls. Genetic association testing was performed using logistic regression and gene-based tests. The association between rare ADAMTS13 variants and the respective plasmatic activity, available for 365 cases and 292 controls, was determined usin

SUBMITTER: Pagliari MT 

PROVIDER: S-EPMC8523043 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature