SynthesisJournal of thrombosis and thrombolysis2021
The genetics of venous thromboembolism: a systematic review of thrombophilia families.
Synthesis in Journal of thrombosis and thrombolysis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Case Report: Severe protein S deficiency unmasks a crypticFrontiers in cardiovascular medicine · 2026Article
- Inherited thrombophilia in a Han Chinese family caused by prothrombin Ile441Met mutation.Research and practice in thrombosis and haemostasis · 2025Article
- Genome-wide association study-driven identification of thrombomodulin and factor V as the best biomarker combination for deep vein thrombosis.Genomics & informatics · 2025Article
- Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.Communications biology · 2025Article
- Genetic factors, risk prediction and AI application of thrombotic diseases.Experimental hematology & oncology · 2024Review
- Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development.Journal of human genetics · 2023Article
- Association between uric acid and risk of venous thromboembolism in East Asian populations: a cohort and Mendelian randomization study.The Lancet regional health. Western Pacific · 2023Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Genetic risk factors are important for the occurrence and prognosis of venous thromboembolism (VTE). The studies of thrombophilia families are important for dissecting the genetic background of the thrombotic disease. We conducted the systematic review of all published family-based studies on VTE genetics across all racial groups through PubMed and Embase prior to 13th April 2020. This systematic review of 287 families (including 225 Caucasian families, 52 East Asian families, and families of other ethnicities) revealed a total of 21 different genes; the five most reported mutated genes were F5 (88/287, 30.7%), SERPINC1 (67/287, 23.3%), PROC (65/287, 22.6%), F2 (40/287, 13.9%) and PROS1 (48/287, 16.7%). For Caucasian families, F5 mutations were most frequently reported at 37.8% (85/225), while PROS1 mutations were most frequently reported, at 40.4% (21/52), for East Asian families (Chinese, Japanese and Korean). Factor V Leiden was reported more frequently in Caucasians than in East Asians. Missense mutations were reported frequently in the SERPINC1, PROC and PROS1 genes. In conclusion, our study found the most likely mutated genes associated with VTE among different ethnic groups and provided indications for VTE genetic testing and research in the future.
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