Homozygosity in the Single Nucleotide Polymorphism Ser128Arg in the E-Selectin Gene Associated With Recurrent Venous Thromboembolism

Jilma, Bernd; Kovar, Florian M.; Hron, Gregor; Endler, Georg; Marsik, Claudia; Eichinger, Sabine; Kyrle, Paul A.

doi:10.1001/archinte.166.15.1655

Cited by 30 publications

(20 citation statements)

References 33 publications

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“…[47] This polymorphism alters ligand affinity, enhances myeloid cellular tethering, and regulates leukocyte-endothelial cell interactions in vitro . [47–50] E-selectin polymorphism has been associated with enhanced endotoxin-triggered, tissue factor-mediated coagulation in humans, atherosclerosis, myocardial infarction and restenosis after angioplasty and may be associated with recurrent VTE.…”

Section: E-selectinmentioning

confidence: 99%

Novel Biomarkers Associated with Deep Venous Thrombosis: A Comprehensive Review

2008

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Primary and recurrent venous thromboembolic disease (VTE, deep venous thrombosis and pulmonary embolism) remain a significant source of morbidity and mortality in the hospitalized patient. Non-specific subjective complaints and lack of specific objective findings related to acute deep venous thrombosis (DVT) and pulmonary embolism (PE) complicate the diagnosis. There remains no single serum marker available to exclusively confirm the diagnosis of VTE. While D-dimer is highly sensitive and useful for diagnostic exclusion, it lacks the specificity necessary for diagnostic confirmation resulting in the need for a variety of additional studies (i.e.: duplex ultrasound, venography, V/Q scanning, helical thoracic and pelvic CT scans and pulmoary angiography). There is evolving research supporting the utility of various plasma markers as novel “biomarkers” for VTE including selectins, microparticles, interleukin-10 and other cytokines. This review attempts to examine recent literature assessing the utility of P-selectin, microparticles, D-dimer, E-selectin, thrombin, interleukins and fibrin monomers in the diagnosis and guidance of therapy for VTE.

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Section: E-selectinmentioning

confidence: 99%

Novel Biomarkers Associated with Deep Venous Thrombosis: A Comprehensive Review

2008

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“…64 Recently, homozygosity in the single-nucleotide polymorphism Ser128Arg in the E-selectin gene has been found to be associated with recurrent VTE. 65 However, this polymorphism was not more frequent in patients with CTEPH than in the general population (I. M. Lang and J. Bernd, unpublished data).…”

Section: Cross Talk Between Ecs and Plateletsmentioning

confidence: 96%

Coagulation and the Vessel Wall in Pulmonary Embolism

Lang

2010

Textbook of Pulmonary Vascular Disease

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Venous thromboembolism comprises deep-vein thrombosis, thrombus in transit, acute pulmonary embolism, and chronic thromboembolic pulmonary hypertension (CTEPH). Pulmonary thromboemboli commonly resolve, with restoration of normal pulmonary hemodynamics. When they fail to resorb, permanent occlusion of the deep veins and/or CTEPH are the consequences. Apart from endogenous fibrinolysis, venous thrombi resolve by a process of mechanical fragmentation, through organization of the thromboembolus by invasion of endothelial cells, leukocytes, and fibroblasts leading to recanalization. Recent data utilizing various models have contributed to a better understanding of venous thrombosis and the resolution process that is directed at maintaining vascular patency. This review summarizes the plasmatic and cellular components of venous thrombus formation and resolution.

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“…In addition to the confirmed associations described above, there are many reported associations with incident and recurrent VT that await confirmation through replication, such as variants in F2, F8, F9, F12 (coagulation factor 12), F13B (coagulation factor 13b), FGB (fibrinogen β), THBD (thrombomodulin), TAFI (thrombin-activable fibrinolysis inhibitor), BAI3 (brain-specific angiogenesis inhibitor 3), ESR1 (estrogen receptor 1), SELE (E-selectin), as well as others [18,20,29,34,[47][48][49][50][51][52][53][54][55][56][57]. The rate of discovery and confirmation by replication will depend on several factors including the availability of larger, well-characterized study populations to detect increasingly smaller-magnitude associations between relatively common variants and risk of VT incidence or recurrence.…”

Section: Future Discoveriesmentioning

confidence: 99%

Genotyping in Prothrombotic States: Implications for the Clinician

Blondon

Hwang

Smith

2011

Curr Cardiovasc Risk Rep

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Thrombophilia has been subject to extensive genetic research. This review focuses on the genetic variants that have confirmed associations with venous thrombosis (VT). For incident VT, the early discovery of variants with large-magnitude associations, such as mutations in antithrombin, protein C, and protein S genes, has been followed by genetic variants that are associated with more moderate risk, such as the factor V Leiden, and prothrombin G20210A. More recently, large candidate-gene and genome-wide association studies have discovered multiple genetic variants with generally weak association with VT. For recurrent VT, the evidence for genetic risk factors remains very limited. Although thrombophilia testing is broadly available to clinicians, the impact on the clinical management of patients remains modest and depends on the strength of the association with VT. More promising for clinical practice may be global assessments of risk that combine risk information from multiple genetic variants, or with those from acquired risk factors. These models have yet to be defined and tested in large and diverse populations to demonstrate that this new genetic risk information has clinical applicability and improves health outcomes.

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Homozygosity in the Single Nucleotide Polymorphism Ser128Arg in the E-Selectin Gene Associated With Recurrent Venous Thromboembolism

Cited by 30 publications

References 33 publications

Novel Biomarkers Associated with Deep Venous Thrombosis: A Comprehensive Review

Novel Biomarkers Associated with Deep Venous Thrombosis: A Comprehensive Review

Coagulation and the Vessel Wall in Pulmonary Embolism

Genotyping in Prothrombotic States: Implications for the Clinician

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