2,221 results match your criteria Genetics of Venous Thromboembolism


Epidemiology and Genetics of Venous Thromboembolism and Chronic Venous Disease.

Circ Res 2021 Jun 10;128(12):1988-2002. Epub 2021 Jun 10.

Department of Surgery, Division of Vascular Surgery, Stanford University School of Medicine, CA (R.A.B., E.F.).

Venous disease is a term that broadly covers both venous thromboembolic disease and chronic venous disease. The basic pathophysiology of venous thromboembolism and chronic venous disease differ as venous thromboembolism results from an imbalance of hemostasis and thrombosis while chronic venous disease occurs in the setting of tissue damage because of prolonged venous hypertension. Both diseases are common and account for significant mortality and morbidity, respectively, and collectively make up a large health care burden. Read More

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COVID-19 Severity Potentially Modulated by Cardiovascular-Disease-Associated Immune Dysregulation.

Viruses 2021 05 28;13(6). Epub 2021 May 28.

Department of Surgery, Division of Otolaryngology-Head and Neck Surgery, UC San Diego School of Medicine, San Diego, CA 92093, USA.

Patients with underlying cardiovascular conditions are particularly vulnerable to severe COVID-19. In this project, we aimed to characterize similarities in dysregulated immune pathways between COVID-19 patients and patients with cardiomyopathy, venous thromboembolism (VTE), or coronary artery disease (CAD). We hypothesized that these similarly dysregulated pathways may be critical to how cardiovascular diseases (CVDs) exacerbate COVID-19. Read More

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Targeted next-generation sequencing reveals novel and known variants of thrombophilia associated genes in Saudi patients with venous thromboembolism.

Clin Chim Acta 2021 Aug 18;519:247-254. Epub 2021 May 18.

Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.

Background: Thrombophilia is a substantial source of indisposition and mortality in several countries, including Arab populations. Deep venous thrombosis (DVT) with or without pulmonary embolism (PE) is the prevalent clinical manifestation of thrombophilia. While many genetic risk factors for DVT are known, almost all associated with hemostasis, many genetic factors remain unexplained. Read More

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Agreement of aptamer proteomics with standard methods for measuring venous thrombosis biomarkers.

Res Pract Thromb Haemost 2021 May 4;5(4):e12526. Epub 2021 May 4.

Department of Clinical Epidemiology Leiden University Medical Center Leiden The Netherlands.

Background: Venous thromboembolism (VTE) is a complex disease with an incidence rate of about 1 in 1000 per year. Despite the availability of validated biomarkers for VTE, unprovoked events account for 50% of first events. Therefore, emerging high-throughput proteomics are promising methods for the expansion of VTE biomarkers. Read More

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Associations with thrombosis are stronger for antiphosphatidylserine/prothrombin antibodies than for the Sydney criteria antiphospholipid antibody tests in SLE.

Lupus 2021 Jul 6;30(8):1289-1299. Epub 2021 May 6.

Division of Rheumatology, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

Objectives: Antiphosphatidylserine/prothrombin complex antibodies (aPS/PT) are risk factors for thrombosis, yet further validation of their clinical relevance in different ethnic groups is required. We investigated the performance of aPS/PT of IgA/G/M isotypes among Sudanese and Swedish systemic lupus erythematosus (SLE) patients.

Methods: Consecutive SLE patients/matched controls from Sudan (n = 91/102) and Sweden (n = 332/163) were included. Read More

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D-Dimer Level and Neutrophils Count as Predictive and Prognostic Factors of Pulmonary Embolism in Severe Non-ICU COVID-19 Patients.

Viruses 2021 04 26;13(5). Epub 2021 Apr 26.

Haemostasis Laboratory, Lariboisière Hospital, AP-HP, University of Paris, 75010 Paris, France.

The incidence of pulmonary embolism (PE) is high during severe Coronavirus Disease 2019 (COVID-19). We aimed to identify predictive and prognostic factors of PE in non-ICU hospitalized COVID-19 patients. In the retrospective multicenter observational CLOTVID cohort, we enrolled patients with confirmed RT-PCR COVID-19 who were hospitalized in a medicine ward and also underwent a CT pulmonary angiography for a PE suspicion. Read More

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An Unexpected Factor to Wellens Syndrome.

Cureus 2021 Apr 14;13(4):e14489. Epub 2021 Apr 14.

Cardiology, Upstate University Hospital, Syracuse, USA.

Factor V Leiden deficiency, the most common inherited thrombophilia, is a risk factor for venous thromboembolism in both the heterozygous and homozygous forms. An autosomal dominant genetic condition, the pattern of incomplete penetrance leads to variable manifestations of the disease. The association with arterial thromboembolism remains controversial, with studies indicating modest increases in risk of coronary artery disease, stroke. Read More

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Use of low-molecular weight heparin, transfusion and mortality in COVID-19 patients not requiring ventilation.

J Thromb Thrombolysis 2021 Apr 12. Epub 2021 Apr 12.

Medical Genetics, University of Foggia, Foggia, Italy.

It is still debated whether prophylactic doses of low-molecular- weight heparin (LMWH) are always effective in preventing Venous Thromboembolism (VTE) and mortality in COVID-19. Furthermore, there is paucity of data for those patients not requiring ventilation. We explored mortality and the safety/efficacy profile of LMWH in a cohort of Italian patients with COVID-19 who did not undergo ventilation. Read More

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[Genetic and Clinical Characteristics of A Family with Combined PROC and PROS1 Genetic Variants].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Apr;29(2):591-595

Jiangsu Institute of Hematology, Key Laboratory of Thrombosis & Hemostasis of Ministry of Health, The First Affiliated Hospital of Soochow University;Suzhou 215006, Jiangsu Province, China,Collaborative Innovation Center of Hematology, Soochow University, Suzhou 215006, Jiangsu Province,

Objective: To test the anticoagulation functions, perform the genetic diagnosis and analyze the clinical characteristics in a family with combined heterozygous genetic variants of PROC and PROS1.

Methods: Peripheral blood was collected from all the family members. Hematological phenotypes and activity of anticoagulant factors were analyzed. Read More

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Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality.

medRxiv 2021 Mar 12. Epub 2021 Mar 12.

Background: There is considerable variability in COVID-19 outcomes amongst younger adults-and some of this variation may be due to genetic predisposition. We characterized the clinical implications of the major genetic risk factor for COVID-19 severity, and its age-dependent effect, using individual-level data in a large international multi-centre consortium.

Method: The major common COVID-19 genetic risk factor is a chromosome 3 locus, tagged by the marker rs10490770. Read More

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Relationship between thrombomodulin gene polymorphism and susceptibility to venous thromboembolism: A protocol for systematic review and meta-analysis.

Medicine (Baltimore) 2021 Mar;100(11):e25001

Department of Pharmacy, Xiashayuan District of Sir Run Run Shaw Hospital affiliated to Medical College of Zhejiang University, Hangzhou, Zhejiang Province, China.

Background: Previous studies displayed that thrombomodulin gene polymorphisms are closely associated with venous thromboembolism (VTE), while the results are inconsistent. Therefore, we conducted a meta-analysis to accurately determine the association between thrombomodulin gene polymorphism and the risk of VTE.

Methods: Wanfang, Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure, the Chongqing VIP Chinese Science and Technology Periodical Database, PubMed, EmBase, and Web of Science databases were searched, and the time to build the database was set until January 2021. Read More

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Higher albumin levels on admission predict better prognosis in patients with confirmed COVID-19.

PLoS One 2021 16;16(3):e0248358. Epub 2021 Mar 16.

Department of Infectious Diseases, Trios Health- A University of Washington Medicine Community Health Partner, Kennewick, Washington, United States of America.

Background: Research surrounding COVID-19 (coronavirus disease 2019) is rapidly increasing, including the study of biomarkers for predicting outcomes. There is little data examining the correlation between serum albumin levels and COVID-19 disease severity. The purpose of this study is to evaluate whether admission albumin levels reliably predict outcomes in COVID-19 patients. Read More

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Glioblastoma cell populations with distinct oncogenic programs release podoplanin as procoagulant extracellular vesicles.

Blood Adv 2021 03;5(6):1682-1694

Department of Experimental Medicine, McGill University, Montreal, QC, Canada.

Vascular anomalies, including local and peripheral thrombosis, are a hallmark of glioblastoma (GBM) and an aftermath of deregulation of the cancer cell genome and epigenome. Although the molecular effectors of these changes are poorly understood, the upregulation of podoplanin (PDPN) by cancer cells has recently been linked to an increased risk for venous thromboembolism (VTE) in GBM patients. Therefore, regulation of this platelet-activating protein by transforming events in cancer cells is of considerable interest. Read More

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Genetic liability to insomnia in relation to cardiovascular diseases: a Mendelian randomisation study.

Eur J Epidemiol 2021 Apr 12;36(4):393-400. Epub 2021 Mar 12.

Unit of Cardiovascular and Nutritional Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Nobelsväg 13, 17177, Stockholm, Sweden.

The present study aimed to determine the associations between insomnia and cardiovascular diseases (CVDs) using Mendelian randomisation (MR) analysis. As instrumental variables, we used 208 independent single-nucleotide polymorphisms associated with insomnia at the genome-wide significance threshold in a meta-analysis of genome-wide association studies in the UK Biobank and 23andMe including a total of 397 959 self-reported insomnia cases and 933 057 non-cases. Summary-level data for nine CVDs were obtained from the UK Biobank including 367 586 individuals of European ancestry. Read More

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Venous Thromboembolism: Genetics and Thrombophilias.

Semin Respir Crit Care Med 2021 Apr 10;42(2):271-283. Epub 2021 Mar 10.

Division of Hematology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

Venous thromboembolism (VTE) is a major cause of morbidity and mortality throughout the world. Up to one half of patients who present with VTE will have an underlying thrombophilic defect. This knowledge has led to a widespread practice of testing for such defects in patients who develop VTE. Read More

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Cerebral Venous Thrombosis in a Child With Very-Early-Onset IBD.

Inflamm Bowel Dis 2021 May;27(6):e71-e73

Pediatric Unit, Villa Sofia Cervello Hospital, Palermo, Italy.

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Association of premature menopause with incident pulmonary hypertension: A cohort study.

PLoS One 2021 10;16(3):e0247398. Epub 2021 Mar 10.

Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

Background: Several forms of pulmonary hypertension (PH) disproportionately affect women. Animal and human studies suggest that estradiol exerts mixed effects on the pulmonary vasculature. Whether premature menopause represents a risk factor for PH is unknown. Read More

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Sodium-Glucose Co-Transporter 2 Inhibitors (SGLT2i) Exposure and Outcomes in Type 2 Diabetes: A Systematic Review of Population-Based Observational Studies.

Diabetes Ther 2021 Apr 4;12(4):991-1028. Epub 2021 Mar 4.

Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

Introduction: Sodium-glucose co-transporter 2 inhibitors (SGLT2is) are licensed for the treatment of type 2 diabetes (T2D) and more recently for heart failure with or without diabetes. They have been shown to be safe (from the cardiovascular (CV) perspective) and effective (in terms of glycaemia, and in some cases, in reducing CV events) in extensive randomised controlled trials (RCTs). However, there remain concerns regarding the generalisability of these findings (to those ineligible for RCT participation) and about non-CV safety. Read More

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Updated recommendations for the treatment of venous thromboembolism.

Blood Res 2021 Mar;56(1):6-16

Division of Hematology-Oncology, Department of Internal Medicine, CHA University School of Medicine, Seongnam, Korea.

Venous thromboembolism (VTE), which includes pulmonary embolism and deep vein thrombosis, is a condition characterized by abnormal blood clot formation in the pulmonary arteries and the deep venous vasculature. It is often serious and sometimes even fatal if not promptly and appropriately treated. Moreover, the later consequences of VTE may result in reduced quality of life. Read More

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Role of vitamin D in treating COVID-19-associated coagulopathy: problems and perspectives.

Mol Cell Biochem 2021 Jun 18;476(6):2421-2427. Epub 2021 Feb 18.

Department of Genetics, LSU Health Science Center, New Orleans, USA.

Aggressive inflammatory response leading to hypercoagulability has been found to be associated with disease severity in COVID-19 patients and portends bad treatment outcome. A state of acute disseminated intravascular coagulation (DIC), along with pulmonary embolism and/or deep vein thrombosis, has been observed in critically ill ICU patients. Autopsy reports of COVID-19 patients demonstrated microthrombi in lungs and in other organs, as well as marked inflammatory changes, characteristic clinicopathological features that exacerbate disease severity. Read More

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Single- and Multimarker Genome-Wide Scans Evidence Novel Genetic Risk Modifiers for Venous Thromboembolism.

Thromb Haemost 2021 Feb 16. Epub 2021 Feb 16.

Institute for Clinical Chemistry and Coagulation Center, University Hospital Schleswig Holstein, Kiel/Lübeck, Germany.

Previous genome-wide association studies (GWASs) have established several susceptibility genes for venous thromboembolism (VTE) and suggested many others. However, a large proportion of the genetic variance in VTE remains unexplained. Here, we report genome-wide single- and multimarker as well as gene-level associations with VTE in 964 cases and 899 healthy controls of European ancestry. Read More

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February 2021

Impact of double heterozygosity for Factor V Leiden and Prothrombin G20210A on the thrombotic phenotype.

Thromb Res 2021 04 2;200:121-127. Epub 2021 Feb 2.

Haemostasis Centre, Institute of Transfusion Medicine and Haemotherapy, University Hospital Gießen and Marburg GmbH, Germany.

Introduction: Because of the rarity of double heterozygosity for Factor V Leiden (FVL) and Prothrombin (FII) G20210A, little is known about the thrombotic phenotype in double heterozygotes.

Material And Methods: In a retrospective cohort study of patients referred for a thrombophilia work-up, we investigated whether double heterozygotes (n = 138) exhibit a more severe thrombotic phenotype compared with single FVL or FIIG20210A heterozygotes, single FVL homozygotes, or wildtype carriers.

Results: The risk of venous thromboembolism (VTE) was higher for female but not male double heterozygotes compared with single heterozygotes (FVL: 2. Read More

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Accidentally discovered high INR in pregnancy unmasks an inherited factor VII (FVII) deficiency that is paradoxically associated with thrombotic tendency.

BMJ Case Rep 2021 Feb 4;14(2). Epub 2021 Feb 4.

Dermatology Department, Albert Einstein College of Medicine, Bronx, New York, USA.

A 32-year-old multiparous obese woman was referred to our center at 37 weeks of twin gestation. She was referred for birth planning following an accidentally discovered high international normalised ratio (INR) in routine preoperative labs. Her history was significant for recurrent pregnancy-associated deep venous thrombosis as well as two early pregnancy losses. Read More

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February 2021

Pulmonary embolism in a patient with Klinefelter's syndrome.

Tidsskr Nor Laegeforen 2021 02 21;141(2). Epub 2021 Jan 21.

Background: Dyspnoea and syncope are common causes of admission to hospitals. Pulmonary embolism is often a differential diagnosis, and by examining the clinical history the clinician searches for known predisposing factors. This case report highlights the importance of Klinefelter's syndrome as a predisposing factor for venous thromboembolism. Read More

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February 2021

Correspondence on 'Risk of venous thromboembolism in rheumatoid arthritis, and its association with disease activity: a nationwide cohort study from Sweden'.

Ann Rheum Dis 2021 Feb 1. Epub 2021 Feb 1.

Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, University of Crete, Heraklion, Greece

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February 2021

Plasminogen activator inhibitor 1 and venous thrombosis in pancreatic cancer.

Blood Adv 2021 01;5(2):487-495

Department of Medicine I, Clinical Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria.

Pancreatic cancer patients have a high risk of venous thromboembolism (VTE). Plasminogen activator inhibitor 1 (PAI-1) inhibits plasminogen activators and increases the risk of thrombosis. PAI-1 is expressed by pancreatic tumors and human pancreatic cell lines. Read More

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January 2021

Carboxypeptidase U (CPU, TAFIa, CPB2) in Thromboembolic Disease: What Do We Know Three Decades after Its Discovery?

Int J Mol Sci 2021 Jan 17;22(2). Epub 2021 Jan 17.

Laboratory of Medical Biochemistry, Department of Pharmaceutical Sciences, University of Antwerp, 2610 Wilrijk, Belgium.

Procarboxypeptidase U (proCPU, TAFI, proCPB2) is a basic carboxypeptidase zymogen that is converted by thrombin(-thrombomodulin) or plasmin into the active carboxypeptidase U (CPU, TAFIa, CPB2), a potent attenuator of fibrinolysis. As CPU forms a molecular link between coagulation and fibrinolysis, the development of CPU inhibitors as profibrinolytic agents constitutes an attractive new concept to improve endogenous fibrinolysis or to increase the efficacy of thrombolytic therapy in thromboembolic diseases. Furthermore, extensive research has been conducted on the in vivo role of CPU in (the acute phase of) thromboembolic disease, as well as on the hypothesis that high proCPU levels and the Thr/Ile325 polymorphism may cause a thrombotic predisposition. Read More

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January 2021

A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.

PLoS Genet 2021 01 19;17(1):e1009284. Epub 2021 Jan 19.

EA3878-GETBO, Univ Brest, Department of internal medicine and chest diseases, FCRIN_INNOVTE, CHU Brest, Brest, France.

Rare variants outside the classical coagulation cascade might cause inherited thrombosis. We aimed to identify the variant(s) causing venous thromboembolism (VTE) in a family with multiple relatives affected with unprovoked VTE and no thrombophilia defects. We identified by whole exome sequencing an extremely rare Arg to Gln variant (Arg89Gln) in the Microtubule Associated Serine/Threonine Kinase 2 (MAST2) gene that segregates with VTE in the family. Read More

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January 2021

Incidence of thromboembolism in patients with melanoma on immune checkpoint inhibitor therapy and its adverse association with survival.

J Immunother Cancer 2021 Jan;9(1)

Department of Hematology and Oncology, Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA

Background: Thromboembolism (TE) in cancer significantly contributes to morbidity and mortality. Little is known about the incidence of arterial TE (ATE) and venous TE (VTE) in patients with melanoma on immune checkpoint inhibitor (ICI) therapy.

Methods: We conducted a retrospective cohort study of patients with melanoma receiving ICI from July 2015 through December 2017 at the Cleveland Clinic. Read More

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January 2021

Genetic Risk Score to Identify Risk of Venous Thromboembolism in Patients With Cardiometabolic Disease.

Circ Genom Precis Med 2021 Feb 12;14(1):e003006. Epub 2021 Jan 12.

TIMI Study Group, Division of Cardiovascular Medicine, Department of Medicine (N.A.M., G.E.M.M., Y.G., F.K.K., R.P.G., B.M.S., E.B., M.S.S., C.T.R.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

Background: Venous thromboembolism (VTE) is a major cause of cardiovascular morbidity and mortality and has a known genetic contribution. We tested the performance of a genetic risk score for its ability to predict VTE in 3 cohorts of patients with cardiometabolic disease.

Methods: We included patients from the FOURIER (Further Cardiovascular Outcomes Research With PCSK9 Inhibition in Patients With Elevated Risk), PEGASUS-TIMI 54 (Prevention of Cardiovascular Events in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin), and SAVOR-TIMI 53 (Saxagliptin Assessment of Vascular Outcomes Recorded in Patients with Diabetes Mellitus) trials (history of a major atherosclerotic cardiovascular event, myocardial infarction, and diabetes, respectively) who consented for genetic testing and were not on baseline anticoagulation. Read More

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February 2021