ReviewJournal of thrombosis and thrombolysis2014
Dysfunction of protein C anticoagulant system, main genetic risk factor for venous thromboembolism in northeast Asians.
Review in Journal of thrombosis and thrombolysis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 36 citations in OpenAlex.
- A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation.Thrombosis journal · 2025Article
- Genetic and clinical characterization of two families with severe venous thromboembolism due to nonsense mutations in the SERPINC1 gene.Thrombosis journal · 2025Article
- Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency.International journal of hematology · 2024Article
- [Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2022Article
- C-terminal residues of activated protein C light chain contribute to its anticoagulant and cytoprotective activities.Journal of thrombosis and haemostasis : JTH · 2020Article
- Plasma phenotypes of protein S Lys196Glu and protein C Lys193del variants prevalent among young Japanese women.Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis · 2019Article
- Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis.Journal of cellular and molecular medicine · 2019Article
- Effects of low-dose combined oral contraceptives and protein S K196E mutation on anticoagulation factors: a prospective observational study.International journal of hematology · 2019Observational
- Protein S K196E mutation reduces its cofactor activity for APC but not for TFPI.Research and practice in thrombosis and haemostasis · 2018Article
- Thrombophilia in East Asian countries: are there any genetic differences in these countries?Thrombosis journal · 2016Review
- Article
- Dissecting the genetic determinants of hemostasis and thrombosis.Current opinion in hematology · 2015Review
- ELISA-Based Detection System for Protein S K196E Mutation, a Genetic Risk Factor for Venous Thromboembolism.PloS one · 2015Article
- Novel mediators and biomarkers of thrombosis.Journal of thrombosis and thrombolysis · 2014Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Venous thromboembolism (VTE) is a life threatening medical disorder worldwide. A great deal of evidence suggests that prevalence of VTE varies significantly among ethnic populations, with consistently lower incidence found in Asians. While the distribution of genetic risk factors may vary among races, genetic risk factors can play a major role among individuals with different genetic backgrounds. Two clinically evaluated low-frequency genetic mutations that predispose to VTE--the factor V Leiden mutation and prothrombin G20210A mutation--are found predominantly in Caucasians, and virtually never in Asians. The findings of a recent genetic study of VTE in northeast Asians, which greatly advanced our knowledge in this area, indicate that the most frequent genetic risk factors for VTE in northeast Asians can be attributed to a dysfunction of the protein C anticoagulant system. Several low-frequency genetic mutations, PROS1 p.Lys196Glu in Japanese and PROC p.Arg189Trp and p.Lys193del in Chinese, are significantly associated with increased risk for VTE, with odds ratio more than 2 through the reduced protein C anticoagulant activity. Construction of a multifactorial model based on the genetic risk factors in the protein C anticoagulant system could facilitate genetic counseling for VTE risk in these populations. The influence of prevalent genetic mutations on the risk of VTE should be further investigated in Asian countries.
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