hkr.sePublikationer
Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Next-generation sequencing of 17 genes associated with venous thromboembolism reveals a deficit of non-synonymous variants in procoagulant genes
Högskolan Kristianstad, Fakulteten för naturvetenskap, Avdelningen för miljö- och biovetenskap. Högskolan Kristianstad, Fakulteten för naturvetenskap, Forskningsmiljön Biomedicin.
Högskolan Kristianstad, Fakulteten för naturvetenskap, Forskningsmiljön Biomedicin. Högskolan Kristianstad, Fakulteten för naturvetenskap, Avdelningen för miljö- och biovetenskap.
Lund University.
Lund University.
Visa övriga samt affilieringar
2019 (Engelska)Ingår i: Thrombosis and haemostasis, ISSN 2567-689X, Vol. 119, nr 9, s. 1441-1450Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

BACKGROUND:  The heritability of venous thromboembolism (VTE) is only partially explained by variants in 17 previously VTE-associated genes.

OBJECTIVE:  This article screens for additional rare variants in the 17 genes and investigates the relative contributions of pro- and anticoagulant genes to VTE.

PATIENTS AND METHODS:  Ninety-six VTE patients from the population-based Malmö Thrombophilia Study were analysed using an AmpliSeq strategy and Ion Torrent sequencing and the variant data were compared with data from public databases.

RESULTS:  A total of 102 non-synonymous and 76 synonymous variants were identified. Forty-six non-synonymous variants were present in the human gene mutation database. Anticoagulant and procoagulant genes showed 14 and 22 rare non-synonymous variants, respectively. Individual patients showed varying numbers of risk factors; 13 patients had non-synonymous mutations in SERPINC1, PROC and PROS1 genes and 42 had factor V Leiden or prothrombin mutations generating a total of 47 patients with at least one of these risk factors. Ten common VTE-associated variants showed low level enrichments and no correlation to the other risk factors. The enrichment of previously identified risk factors was similar to previous studies. Determination of the nsyn/syn ratio (number of non-synonymous variants per non-synonymous site, nsyn, to the number of synonymous variants per synonymous site, syn) showed, as expected in patients, an increase of non-synonymous relative to synonymous anticoagulant variants compared with controls (nsyn/syn, 0.95 vs. 0.68). In contrast, non-synonymous procoagulant variants (nsyn/syn, 0.31 vs. 0.63) showed a decrease. We suggest that the deficit of non-synonymous variants in procoagulant genes is a novel mechanism contributing to VTE.

Ort, förlag, år, upplaga, sidor
2019. Vol. 119, nr 9, s. 1441-1450
Nyckelord [en]
venous thromboembolism - blood coagulation factors - anticoagulant - procoagulant - next-generation sequencing
Nationell ämneskategori
Biologiska vetenskaper
Identifikatorer
URN: urn:nbn:se:hkr:diva-19788DOI: 10.1055/s-0039-1693130ISI: 000483576500010PubMedID: 31352677OAI: oai:DiVA.org:hkr-19788DiVA, id: diva2:1344207
Tillgänglig från: 2019-08-20 Skapad: 2019-08-20 Senast uppdaterad: 2019-10-08Bibliografiskt granskad

Open Access i DiVA

Fulltext saknas i DiVA

Övriga länkar

Förlagets fulltextPubMed

Sök vidare i DiVA

Av författaren/redaktören
Manderstedt, EricLind-Halldén, ChristinaHalldén, C
Av organisationen
Avdelningen för miljö- och biovetenskapForskningsmiljön BiomedicinAvdelningen för Naturvetenskap
Biologiska vetenskaper

Sök vidare utanför DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetricpoäng

doi
pubmed
urn-nbn
Totalt: 232 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf