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Genetic risk factor...
Genetic risk factors for venous thromboembolism
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- 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
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- 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
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- 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
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- Hallden, Christer (author)
- Kristianstad University
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- 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.
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In: Expert Review of Hematology. - : Informa UK Limited. - 1747-4086 .- 1747-4094. ; 13:9, s. 971-981
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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
Publication and Content Type
- for (subject category)
- ref (subject category)
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