ArticleAmerican journal of human genetics2013
Common genetic risk factors for venous thrombosis in the Chinese population.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Air pollution and venous thrombosis: a meta-analysis.Scientific reports · 2016Pooled it
- Clinical Phenotype and Genetic Analysis of a Family with Hereditary Antithrombin Deficiency Caused by SERPINC1 Gene Mutation.Thrombosis and haemostasis · 2026Article
- A pedigree analysis of deep venous thrombosis caused by rare compound heterozygous PROC mutations combined with a heterozygous THBD mutation.Thrombosis journal · 2025Article
- Cellular and molecular mechanisms of thrombosis and thrombus-targeted thrombolytic strategies.Materials today. Bio · 2025Review
- Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China.Thrombosis and haemostasis · 2025Article
- Successful Pregnancy Outcome in a Patient with Recurrent Miscarriage Due to PCOS Complicated by Hereditary Protein C Deficiency.International journal of women's health · 2025Article
- [Hereditary protein C deficiency presenting with predominant hemorrhagic symptoms: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- The Impact of Cardiovascular Disease Gene Polymorphism and Interaction with Homocysteine on Deep Vein Thrombosis.ACS omega · 2024Article
- Genetic factors, risk prediction and AI application of thrombotic diseases.Experimental hematology & oncology · 2024Review
- Construction and optimization of a polygenic risk model for venous thromboembolism in the Chinese population.Journal of vascular surgery. Venous and lymphatic disorders · 2024Article
- Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.Thrombosis journal · 2023Article
- Methylenetetrahydrofolate Reductase 677T Allele Is a Risk Factor for Arterial Thrombosis in Chinese Han Patients with Antiphospholipid Syndrome.Biomedicines · 2022Article
- Monogenic basis of young-onset cryptogenic stroke: a multicenter study.Annals of translational medicine · 2022Article
- [Chinese guidelines for diagnosis, prevention and treatment of thrombophilia (2021)].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2021Article
- A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant.PLoS genetics · 2021Article
- Benefits may not outweigh risks of low molecular weight heparin (LMWH) in early postoperative thromboprophylaxis following minimally invasive cardiac surgery: a propensity score-matched analysis.Journal of thoracic disease · 2019Article
- Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis.Journal of cellular and molecular medicine · 2019Article
- Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.Frontiers of medicine · 2018Article
- Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene.Current medical science · 2018Article
- THBD sequence variants potentially related to recurrent pregnancy loss.Reproductive biology and endocrinology : RB&E · 2017Article
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16 authors at 2 institutions in 1 country.
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Abstract
Venous thrombosis is a major medical disorder caused by both genetic and environmental factors. Little is known about the genetic background of venous thrombosis in the Chinese population. A total of 1,304 individuals diagnosed with a first venous thrombosis and 1,334 age- and sex-matched healthy participants were enrolled in this study. Resequencing of THBD (encoding thrombomodulin) in 60 individuals with venous thrombosis and 60 controls and a functional assay showed that a common variant, c.-151G>T (rs16984852), in the 5' UTR significantly reduced the gene expression and could cause a predisposition to venous thrombosis. Therefore, this variant was genotyped in a case-control study, and results indicated that heterozygotes had a 2.80-fold (95% confidence interval = 1.88-4.29) increased risk of venous thrombosis. The THBD c.-151G>T variant was further investigated in a family analysis involving 176 first-degree relatives from 38 index families. First-degree relatives with this variant had a 3.42-fold increased risk of venous thrombosis, and their probability of remaining thrombosis-free was significantly lower than that of relatives without the variant. In addition, five rare mutations that might be deleterious were also identified in thrombophilic individuals by sequencing. This study is the largest genetic investigation of venous thrombosis in the Chinese population. Further study on genetics of thrombosis should focus on resequencing of THBD and other hemostasis genes in different populations.
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