Genetics of venous thromboembolism revised

Zöller, Bengt

doi:10.1182/blood.2019002597

Cited by 15 publications

(15 citation statements)

References 9 publications

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“…antithrombin and the protein C system [SERPINC1, PROC, PROS1, F5) [73]. However, recent GWAS have expanded and revised the genetic architecture of VTE [39][40][41][42][43][44]74]. Though weaker associations GWAS shows that besides coagulation and the natural anticoagulants also platelets, erythrocytes, and inflammation are involved in the genetic pathogenesis of VTE (Figures 1 and 2).…”

Section: Pathways Involved In the Genetic Pathogenesis Of Venous Thromboembolismmentioning

confidence: 99%

“…The most important genetic risk factors for VTE (ie, classical thrombophilia) are all related to coagulation (F2 and F5 genes) or the anticoagulation system (SERPINC1, PROC, and PROS1 genes) (Figures 1 and 2). However, the recent two large GWAS studies added several novel gene loci all involved directly or indirectly in platelet biology, erythrocyte biology, or inflammation (Table 1 and Figure 2) [43,44,74]. The GWAS study by Lindstrom et al also used Mendelian randomization and showed that some blood traits are causally associated with VTE risk [43].…”

Section: Expert Opinionmentioning

confidence: 99%

“…The GWAS study by Lindstrom et al also used Mendelian randomization and showed that some blood traits are causally associated with VTE risk [43]. Thus, platelets that before having been implicated mostly in arterial thrombosis are also of importance for VTE [43,44,74]. As erythrocytes also are constituents of thrombi it is possible that certain erythrocyte traits could increase the VTE risk [88,89].…”

Section: Expert Opinionmentioning

confidence: 99%

“…This relationship was independent of potential confounders including hematological, multiple biological, socioeconomic, and lifestyle factors. Thus, evidence is accumulating that the formed elements in the blood need more attention from researchers in the field of VTE [43,44,74,88,89]. Inflammatory disorders, such as infection and immune-mediated diseases, have been linked to VTE [90].…”

Section: Expert Opinionmentioning

confidence: 99%

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Genetic risk factors for venous thromboembolism

Zöller

Svensson

Dahlbäck

et al. 2020

Expert Review of Hematology

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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.

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Section: Pathways Involved In the Genetic Pathogenesis Of Venous Thromboembolismmentioning

confidence: 99%

Section: Expert Opinionmentioning

confidence: 99%

Section: Expert Opinionmentioning

confidence: 99%

Section: Expert Opinionmentioning

confidence: 99%

See 2 more Smart Citations

Genetic risk factors for venous thromboembolism

Zöller

Svensson

Dahlbäck

et al. 2020

Expert Review of Hematology

Self Cite

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“… 71 Daratumumab, a monoclonal anti-CD38 antibody approved for the treatment of multiple myeloma, showed an ORR of 25% when used as monotherapy in patients with R/R ENKTL in a phase II trial. 72 A multicenter phase II trial will evaluate the association of daratumumab with gemcitabine, dexamethasone, and cisplatin in patients with R/R CD38+ PTCL-NOS, AITL, and other nodal lymphomas of Tfh cell origin (NCT04251065). Bi-specific CD30 based immunotherapy.…”

Section: Future Directions With Selected Innovative Chemo-free Drugs For Pctlsmentioning

confidence: 99%

Updates in the Treatment of Peripheral T-Cell Lymphomas

Saleh¹,

Michot²,

Ribrag³

2021

JEP

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Peripheral T-cell lymphomas (PTCLs) represent a heterogeneous group of rare hematologic malignancies accounting for less than 10% of non-Hodgkin lymphomas. The 2016 classification of World Health Organization recognized 29 different entities of PTCLs. These subgroups are characterized by different molecular and genetic patterns. For nearly 30 years, little improvement in the treatment of PTCLs has been noticed due to the paucity of randomized trials and anthracycline-based chemotherapy remains the mainstay of first-line treatment. In front-line setting, ECHELON-2, the first randomized controlled Phase III clinical trial, recently met its primary endpoint of PFS demonstrating the superiority of BV containing regimen when compared to standard CHOP in patients with CD30 positive PTCLs. The role of therapeutic intensifications such as autologous or allogenic stem cell transplantations remains controversial in first-line setting and in relapsed/refractory disease due to the lack of studies clearly addressing this question and the recently published negative studies. PTCLs are often refractory to first-line chemotherapy and tend to relapse after an initial response. New agents have been approved for relapsed/refractory disease such as Histone deacetylase inhibitors, folate analogue metabolic inhibitor or CD30 antibody drug conjugated. Despite an acceptable response to these agents, progression-free survival remains very poor. New strategies such as combinations of different agents have been evaluated in order to improve outcomes. Innovative drugs in the fields of epigenetics, immunomodulation within the tumor microenvironment, and direct targeting of tumor cells to CD30 and T-cell receptor abnormalities open new perspectives to improve the treatment of PTCLs.

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Personalized medicine for disorders of hemostasis and thrombosis

Ornstein

2024

Diagnostic Molecular Pathology

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Genetics of venous thromboembolism revised

Cited by 15 publications

References 9 publications

Genetic risk factors for venous thromboembolism

Genetic risk factors for venous thromboembolism

Updates in the Treatment of Peripheral T-Cell Lymphomas

Personalized medicine for disorders of hemostasis and thrombosis

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