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Genetic risk factors for venous thromboembolism

Zöller, Bengt (author)
Lund University,Lunds universitet,Allmänmedicin, kardiovaskulär medicin och genetik,Forskargrupper vid Lunds universitet,Family medicine, cardiovascular medicine and genetics,Lund University Research Groups
Svensson, Peter J. (author)
Lund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups,Skåne University Hospital
Dahlbäck, Björn (author)
Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups,Skåne University Hospital
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Lind-Hallden, Christina (author)
Kristianstad University,Biomedicin
Hallden, Christer (author)
Kristianstad University
Elf, Johan (author)
Lund University,Lunds universitet,Klinisk koagulationsmedicin, Malmö,Forskargrupper vid Lunds universitet,Clinical Coagulation, Malmö,Lund University Research Groups,Skåne University Hospital
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 (creator_code:org_t)
2020-08-23
2020
English.
In: Expert Review of Hematology. - : Informa UK Limited. - 1747-4086 .- 1747-4094. ; 13:9, s. 971-981
  • Research review (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

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinsk bioteknologi -- Biomedicinsk laboratorievetenskap/teknologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Medical Biotechnology -- Biomedical Laboratory Science/Technology (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

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