SynthesisJournal of thrombosis and haemostasis : JTH2020
Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.
Synthesis in Journal of thrombosis and haemostasis : JTH, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.BMC medicine · 2023Pooled it
- Exploring the role of VAV2 rare variants in primary open-angle glaucoma: genetic insights and pathophysiological mechanisms.Science China. Life sciences · 2026Article
- Blood plasma proteome-wide association study implicates novel proteins in the pathogenesis of multiple cardiovascular diseases.Cardiovascular diabetology · 2025Article
- From diagnosis to disappearance: a case report on managing atrial septal thrombus with anticoagulation.European heart journal. Case reports · 2025Article
- Thrombotic risk determined byResearch and practice in thrombosis and haemostasis · 2025Article
- Venous thromboembolic disease genetics: from variants to function.Journal of thrombosis and haemostasis : JTH · 2024Review
- Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program.Circulation. Genomic and precision medicine · 2023Article
- Growth Differentiation Factor 15 and Risk of Bleeding Events: The Atherosclerosis Risk in Communities Study.Journal of the American Heart Association · 2023Article
- Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.Human molecular genetics · 2022Article
- Novel exomic rare variants associated with venous thrombosis.British journal of haematology · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundRare coding mutations underlying deficiencies of antithrombin and proteins C and S contribute to familial venous thromboembolism (VTE). It is uncertain whether rare variants play a role in the etiology of VTE in the general population.
objectivesWe conducted a deep whole-exome sequencing (WES) study to investigate the associations between rare coding variants and the risk of VTE in two population-based prospective cohorts. PATIENTS/
methodsWhole-exome sequencing was performed in the Longitudinal Investigation of Thromboembolism Etiology (LITE), which combines the Atherosclerosis Risk in Communities (ARIC) study (316 incident VTE events among 3159 African Americans [AAs] and 458 incident VTEs among 7772 European Americans [EAs]) and the Cardiovascular Healthy Study (CHS; 60 incident VTEs among 1751 EAs). We performed gene-based tests of rare variants (allele frequency < 1%, exome-wide significance P < 1.47 × 10
resultsIn the meta-analysis of EAs, we identified one gene, PROC, in which the burden of rare, coding variants was significantly associated with increased risk of VTE (HR = 5.42 [3.11, 9.42] for carriers versus non-carriers, P = 2.27 × 10
conclusionsRare coding variants in PROC contribute to increased VTE risk in EAs in this general population sample.
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Registered trials
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 Socratic graph.