ArticleResearch and practice in thrombosis and haemostasis2020
Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism.
Article in Research and practice in thrombosis and haemostasis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 22 citations in OpenAlex.
- Association of the PROC rs146922325 variant with venous thrombosis in a Taiwanese population.Blood research · 2026Article
- [Clinical and genetic analysis of two families with combined defect in antithrombin and protein C genes].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Article
- Development of a MassARRAY Genotyping Platform and Its Clinical Application for Venous Thromboembolism Risk Assessment in Thai Patients.Medical sciences (Basel, Switzerland) · 2025Article
- Thrombomodulin: A key regulator of intravascular blood coagulation, fibrinolysis, and inflammation, and a treatment for disseminated intravascular coagulation.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2025Review
- Thrombosis-related characteristics of pregnant women with antithrombin deficiency, protein C deficiency and protein S deficiency in Japan.Thrombosis journal · 2024Article
- [Clinical characteristics and gene mutation analysis of two families with hereditary protein C deficiency].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2023Article
- Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.Thrombosis journal · 2023Article
- Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn.AJP reports · 2023Article
- Thrombosis and anticoagulation: clinical issues of special importance to hematologists who practice in Asia.Hematology. American Society of Hematology. Education Program · 2022Article
- Effect on Plasma Protein S Activity in Patients Receiving the Factor Xa Inhibitors.Journal of atherosclerosis and thrombosis · 2022Article
- Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism.Research and practice in thrombosis and haemostasis · 2020Article
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Authors and funding
10 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRacial differences in genetic risk factors for venous thromboembolism (VTE) are elucidated, with factor V Leiden and prothrombin G20210A being prevalent among the Caucasian population but rare among non-Caucasians.
objectivesTo assess the worldwide distribution of three gene polymorphisms previously identified as genetic risk factors among East Asian subpopulations: protein S (PS) Tokushima (p.Lys196Glu), protein C (PC) p.Arg189Trp, and PC p.Lys193del.
methodsAn international collaborative study group of seven centers in five countries-Japan, South Korea, Singapore, Hungary, and Brazil-was created, and genotype analyses were performed. A total of 2850 unrelated individuals (1061 patients with VTE and 1789 controls) were included.
resultsPS Tokushima was confined to Japanese patients with VTE (allele frequency, 2.35%) and controls (1.12%), with an odds ratio (OR) of 2.15 (95% confidence interval, 1.16-3.99). PC p.Arg189Trp carriers were prevalent among Chinese and Malay patients with VTE in Singapore, with allele frequencies of 10.53% and 22.73%, respectively. Carriers of PC p.Lys193del were identified among Japanese and Korean patients with VTE (0.87% and 2.35%, respectively) and controls (0.36% and 1.07%, respectively), with the OR for VTE not being significant, and Chinese patients with VTE in Singapore (5.26%). In contrast, no carriers of PS Tokushima and two PC gene variants were found among patients with VTE or controls from Hungary, Brazil, or Indians in Singapore.
conclusionThe three variants were prevalent among East and Southeast Asians, having some differences in geographic distribution, but were absent among Caucasian subpopulations and Brazilians.
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