ArticleBlood2020
Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
Article in Blood, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- The contribution of the sinusoidal endothelial cell receptors CLEC4M, stabilin-2, and SCARA5 to VWF-FVIII clearance in thrombosis and hemostasis.Journal of thrombosis and haemostasis : JTH · 2023Pooled it
- Real-world data on Factor V Leiden in Sweden: A nationwide family study.Journal of thrombosis and thrombolysis · 2026Article
- Multipopulation GWAS for venous thromboembolism identifies novel loci followed by experimental validation in zebrafish.Blood advances · 2025Article
- A Self-Adapting Polygenic Risk Score Model Improves Risk Prediction of Venous Thromboembolism in Han Chinese Cohorts.Phenomics (Cham, Switzerland) · 2025Article
- The genetics of chronic thromboembolic pulmonary hypertension: no longer a stab in the dark.ERJ open research · 2025Article
- Rare variants inERJ open research · 2025Article
- Identification of multiple novel procoagulant plasma ligands for stabilin-2.Journal of thrombosis and haemostasis : JTH · 2025Article
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing.Neurology. Genetics · 2025Article
- [Advances in the genetics of venous thromboembolic disease].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Thrombotic complications post liver transplantation: Etiology and management.World journal of critical care medicine · 2024Review
- The Basic Principles of Pathophysiology of Venous Thrombosis.International journal of molecular sciences · 2024Review
- Venous thromboembolic disease genetics: from variants to function.Journal of thrombosis and haemostasis : JTH · 2024Review
- Application of the TaqMan ARMS-PCR Approach for Genotyping Drug-Induced Hearing Loss Using Dried Blood Samples.Current issues in molecular biology · 2024Article
- Genetic associations of protein-coding variants in venous thromboembolism.Nature communications · 2024Article
- Whole Exome Sequencing in Vaccine-Induced Thrombotic Thrombocytopenia (VITT).BioMed research international · 2024Article
- Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.International journal of molecular sciences · 2023Article
- Plasma Clearance of Coagulation Factor VIII and Extension of Its Half-Life for the Therapy of Hemophilia A: A Critical Review of the Current State of Research and Practice.International journal of molecular sciences · 2023Review
- Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.Circulation. Genomic and precision medicine · 2023Article
- Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.Pharmacogenomics and personalized medicine · 2023Review
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16 authors at 8 institutions in 4 countries.
Funding
Abstract
Deep vein thrombosis and pulmonary embolism, collectively defined as venous thromboembolism (VTE), are the third leading cause of cardiovascular death in the United States. Common genetic variants conferring increased varying degrees of VTE risk have been identified by genome-wide association studies (GWAS). Rare mutations in the anticoagulant genes PROC, PROS1 and SERPINC1 result in perinatal lethal thrombosis in homozygotes and markedly increased VTE risk in heterozygotes. However, currently described VTE variants account for an insufficient portion of risk to be routinely used for clinical decision making. To identify new rare VTE risk variants, we performed a whole-exome study of 393 individuals with unprovoked VTE and 6114 controls. This study identified 4 genes harboring an excess number of rare damaging variants in patients with VTE: PROS1, STAB2, PROC, and SERPINC1. At STAB2, 7.8% of VTE cases and 2.4% of controls had a qualifying rare variant. In cell culture, VTE-associated variants of STAB2 had a reduced surface expression compared with reference STAB2. Common variants in STAB2 have been previously associated with plasma von Willebrand factor and coagulation factor VIII levels in GWAS, suggesting that haploinsufficiency of stabilin-2 may increase VTE risk through elevated levels of these procoagulants. In an independent cohort, we found higher von Willebrand factor levels and equivalent propeptide levels in individuals with rare STAB2 variants compared with controls. Taken together, this study demonstrates the utility of gene-based collapsing analyses to identify loci harboring an excess of rare variants with functional connections to a complex thrombotic disease.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.