ReviewInternational journal of hematology2006
Genetic risk factors for deep vein thrombosis among Japanese: importance of protein S K196E mutation.
Review in International journal of hematology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Deep vein thrombosis in response to stress induced by earthquakes in Japan: a meta-analysis of possible exacerbating factors.Scientific reports · 2024Pooled it
- Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population.International journal of hematology · 2006Trial
- Management of patients with protein s deficiency: focus on clinical course and direct oral anticoagulants.Thrombosis journal · 2026Article
- Mechanism of antithrombin deficiency due to the novel variant C32W in the C-terminus of the signal peptide.International journal of hematology · 2025Article
- Safety and efficacy of extended thrombophilia screening directed venous thromboembolic events (VTE) prophylaxis in live liver donors: do we really need extended thrombophilia screening routinely?Annals of medicine and surgery (2012) · 2024Article
- Identification of risk factors for venous thromboembolism and validation of the Khorana score in patients with advanced lung cancer: based on the multicenter, prospective Rising-VTE/NEJ037 study data.International journal of clinical oncology · 2023Observational
- Spontaneous Regression of an Unruptured Arteriovenous Malformation Due to Drainer Vein Thrombosis in a Patient with Protein S Deficiency: A Case Report and Literature Review.NMC case report journal · 2023Article
- Risk of Delayed Bleeding after Cold Snare Polypectomy in Patients with Antithrombotic Therapy.Digestive diseases and sciences · 2022Article
- First report of inherited protein S deficiency caused by paternalHaematologica · 2022Article
- Comparative evaluation of reagents for measuring protein S activity: possibility of harmonization.International journal of hematology · 2021Article
- Peripartum myocardial infarction associated with coronary spasm and acquired protein S deficiency: A case report.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
- Donor Selection and Prophylactic Strategy for Venous Thromboembolic Events in Living Donors of Liver Transplantation Based on Results of Thrombophilia Screening Tests.Annals of transplantation · 2017Article
- Pediatric thromboembolism: a national survey in Japan.International journal of hematology · 2017Article
- Plasminogen Tochigi mice exhibit phenotypes similar to wild-type mice under experimental thrombotic conditions.PloS one · 2017Article
- No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome.International journal of hematology · 2016Article
- Thrombophilia in East Asian countries: are there any genetic differences in these countries?Thrombosis journal · 2016Review
- Article
- Stent thrombosis caused by metal allergy complicated by protein S deficiency and heparin-induced thrombocytopenia: a case report and review of the literature.Thrombosis journal · 2015Article
- Clinical features and underlying causes of cerebral venous thrombosis in Japanese patients.International journal of hematology · 2014Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There is mounting evidence that mutations associated with a given disease arise with different frequencies among ethnic groups, thus ethnicity-specific studies are needed to identify causative mutations and properly assess risk. In particular, ethnic differences in the genetic background of thrombophilia have been reported. We recently conducted a large-scale analysis of the plasma activities of proteins C, S, antithrombin, and plasminogen within the Japanese general population. We found age- and sex-related differences and estimated the prevalence of deficiencies of protein C (0.13%), antithrombin (0.15%), protein S (1.12%), and plasminogen (4.29%). We also evaluated the genetic contribution to deep vein thrombosis and found that protein S mutation K196E is a genetic risk factor in the Japanese population. We estimated allele frequency to be 0.009, suggesting that 1 of 12,000 Japanese may be homozygous for the E allele, thus possibly as many as 10,000 individuals. Accordingly, a substantial proportion of the Japanese population carries the protein S E allele and is at risk of developing deep vein thrombosis. Given the frequency of this mutation and its strong correlation with deep vein thrombosis, it may be valuable to conduct a large-scale screening for this allele and advise concerned persons to avoid environmental risk factors known to be associated with deep vein thrombosis.
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