IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0258675.html
   My bibliography  Save this article

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

Author

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

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

Suggested Citation

  • Maria Teresa Pagliari & Andrea Cairo & Marco Boscarino & Ilaria Mancini & Emanuela Pappalardo & Paolo Bucciarelli & Ida Martinelli & Frits R Rosendaal & Flora Peyvandi, 2021. "Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis," PLOS ONE, Public Library of Science, vol. 16(10), pages 1-12, October.
    • Handle: RePEc:plo:pone00:0258675
    DOI: 10.1371/journal.pone.0258675
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0258675
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0258675&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0258675?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pone00:0258675. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.