Genetic risk factors of vascular thrombotic disease in Taiwan

Y. H. Li, G. Y. Shi, H. L. Wu, J. H. Chen

Research output: Contribution to journalReview articlepeer-review


Over the past several years, many studies have evaluated the association between genetic variations and vascular thrombotic diseases. Genes encoding procoagulant, anticoagulant and fibrinolytic proteins are most commonly studied. Angiotensin-converting enzyme (ACE) insertion/deletion polymorphism and methylenetetrahydrofolate reductase (MTHFR) C677T mutation are also investigated. Factor V Leiden (G1691A mutation of factor V gene) and G20210A mutation of prothrombin gene have been found to be important genetic risk factors of venous thrombosis in Caucasians. Their roles in arterial thrombotic disease are still uncertain. However, the prevalence of these 2 mutations is close to 0 in Taiwan. Thrombomodulin G-33A mutation is a functional genetic variant that decreases gene transcriptional activity. Its prevalence is low (<1%) in Caucasians. However, this mutation is a common genetic variant in Taiwan, and it may increase the risk of coronary artery disease (CAD) and myocardial infarction (MI) in our population. There are still no definite conclusions about the association of other genetic mutations, such as fibrinogen, factor VII, platelet glycoprotein IIIa, tissue-type plasminogen activator and plasminogen activator inhibitor-1 genes, with vascular thrombotic disease. ACE insertion/deletion polymorphism and MTHFR C677T mutation are common genetic variants in Caucasians. Conflicting results regarding their relationship with clinical diseases have been reported. In Taiwan, these genetic variants are also common, but the results of studies fail to find any association with vascular thrombotic disease. In conclusion, factor V Leiden and prothrombin G20210A mutation may be important risk factors for venous thrombosis in Caucasians, but not for Chinese in Taiwan. Thrombomodulin G-33A mutation may increase the risk of CAD and MI in Taiwan. Therefore, ethnic background plays an important role in the study of genetic risk factors for vascular thrombotic disease.

Original languageEnglish
Pages (from-to)197-208
Number of pages12
JournalActa Cardiologica Sinica
Issue number4
Publication statusPublished - 2000 Jan 1

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine


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