ArticleInternational journal of general medicine2026
Multi-Omics Prioritization and Clinical Evaluation of CYP4V2 as a Candidate Biomarker in Venous Thromboembolism.
Article in International journal of general medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Venous thromboembolism (VTE), including deep vein thrombosis and pulmonary embolism, has a substantial genetic component, but the effector genes and clinically relevant biomarkers remain incompletely defined. Methods: We analyzed FinnGen R12 genome-wide association study (GWAS) summary statistics for VTE and its subphenotypes. The Mixture model for estimating polygenicity and discoverability (MiXeR) was used to characterize the shared genetic architecture between deep vein thrombosis and pulmonary embolism. Cross-tissue Unified Test for Molecular SignaTures (UTMOST) and single-tissue Functional Summary-based Imputation (FUSION) transcriptome-wide association analyses were integrated with Multi-marker Analysis of GenoMic Annotation (MAGMA) gene and pathway analyses to prioritize candidate genes. FUSION conditional and joint analysis was applied to evaluate locus-level independence. Single-variant cis-expression quantitative trait locus (cis-eQTL)-based Mendelian randomization (MR) with Steiger directionality testing was performed for Results: MiXeR indicated extensive shared polygenicity between deep vein thrombosis and pulmonary embolism. Across UTMOST, FUSION, and MAGMA, Conclusion: Integrated gene-prioritization analyses and preliminary transcriptomic and serum-protein associations nominate CYP4V2 for further evaluation as a VTE-associated candidate biomarker. Colocalization does not establish expression-mediated causality. Larger prospective studies and functional validation are required to determine its biological relevance and clinical utility.
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