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Genetic risk factors for venous thromboembolism

Zöller, Bengt (author)
Lunds universitet
Svensson, Peter J (author)
Lunds universitet
Dahlbäck, Björn (author)
Lunds universitet
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Lind-Halldén, Christina (author)
Högskolan Kristianstad,Forskningsmiljön Biomedicin,Avdelningen för miljö- och biovetenskap
Halldén, Christer (author)
Högskolan Kristianstad,Avdelningen för Naturvetenskap,Forskningsmiljön Biomedicin
Elf, Johan (author)
Lunds universitet
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 (creator_code:org_t)
2020
2020
English.
In: Expert Review of Hematology. - 1747-4086 .- 1747-4094. ; 13:9, s. 971-981
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • INTRODUCTION: Venous thromboembolism (VTE) is a complex disease that aggregates in families. Both acquired and genetic risk factors are important. Proper recognition and management of high-risk individuals are important.AREAS COVERED: The genetic risk factors for VTE, the clinical consequences, and future perspectives are summarized. Classical thrombophilia i.e. factor V Leiden (rs6025), the prothrombin G20210A mutation (rs1799963), deficiencies of antithrombin, protein C, and protein S and the recent findings from genome wide association studies (GWAS), transcriptome-wide association studies (TWAS), genetic risk score (GRS), VTE candidate genes, expression studies, animal studies, studies using next generation sequencing, pathway analysis, and clinical implications are discussed.EXPERT OPINION: Screening of inherited thrombophilia should be performed in special cases. Identification of strong risk variants might affect the management. The increasing number of genetic risk variants is likely to change management of VTE.

Subject headings

MEDICAL AND HEALTH SCIENCES  -- Medical Biotechnology -- Biomedical Laboratory Science/Technology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinsk bioteknologi -- Biomedicinsk laboratorievetenskap/teknologi (hsv//swe)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinsk bioteknologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Medical Biotechnology (hsv//eng)

Keyword

antithrombin deficiency
deep vein thrombosis
genetics
genome-wide association study
molecular epidemiology
protein C deficiency
protein S deficiency
pulmonary embolism
thrombophilia
venous thromboembolism

Publication and Content Type

ref (subject category)
art (subject category)

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