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

Maria Teresa Pagliari, Andrea Cairo, Marco Boscarino, Ilaria Mancini, Emanuela Pappalardo, Paolo Bucciarelli, Ida Martinelli, Frits R Rosendaal and Flora Peyvandi

PLOS ONE, 2021, vol. 16, issue 10, 1-12

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 using linear regression. All analyses were age-, sex- adjusted. Results: We identified 48 low-frequency/common and 272 rare variants. Nine low-frequency/common variants had a P

Date: 2021
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Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0258675

DOI: 10.1371/journal.pone.0258675

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